Variant report

Variant	rs7637250
Chromosome Location	chr3:100445155-100445156
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:100427373..100432741-chr3:100444559..100449440,6	MCF-7	breast:
2	chr3:100444141..100445657-chr3:100447158..100448973,2	K562	blood:
3	chr3:100427327..100429549-chr3:100443145..100445427,2	K562	blood:
4	chr3:100442764..100445441-chr3:100450170..100452232,2	K562	blood:
5	chr3:100428339..100431099-chr3:100444238..100445960,2	MCF-7	breast:
6	chr3:100421148..100423017-chr3:100443429..100446212,2	K562	blood:

Variant related genes	Relation type
ENSG00000114354	Chromatin interaction

Extended variants
information (count: 131 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:106)

rs_ID	r²[population]
rs1059363	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10755119	0.82[EUR][1000 genomes]
rs10936349	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11353	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1143774	0.82[EUR][1000 genomes]
rs1143776	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1143778	0.94[ASN][1000 genomes]
rs1143780	0.94[ASN][1000 genomes]
rs1143782	0.94[ASN][1000 genomes]
rs1144104	0.93[ASN][1000 genomes]
rs1144105	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1144106	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1144107	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1144108	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1144109	0.94[ASN][1000 genomes]
rs1144110	0.91[ASN][1000 genomes]
rs1144111	0.89[ASN][1000 genomes]
rs1144113	0.80[ASN][1000 genomes]
rs1144115	0.81[ASN][1000 genomes]
rs1144122	0.87[EUR][1000 genomes]
rs1144124	0.87[EUR][1000 genomes]
rs1144125	0.87[EUR][1000 genomes]
rs1144126	0.87[EUR][1000 genomes]
rs1145336	0.82[ASN][1000 genomes]
rs1145337	0.82[ASN][1000 genomes]
rs1145338	0.91[ASN][1000 genomes]
rs1145348	0.88[EUR][1000 genomes]
rs1145351	0.87[EUR][1000 genomes]
rs1165250	0.87[EUR][1000 genomes]
rs1165253	0.87[EUR][1000 genomes]
rs1165255	0.87[EUR][1000 genomes]
rs1165260	0.82[EUR][1000 genomes]
rs1165262	0.94[ASN][1000 genomes]
rs1165264	0.88[EUR][1000 genomes]
rs1165345	0.88[ASN][1000 genomes]
rs1165346	0.88[ASN][1000 genomes]
rs1165347	0.88[ASN][1000 genomes]
rs1165348	0.86[ASN][1000 genomes]
rs1165349	0.86[ASN][1000 genomes]
rs1165350	0.94[ASN][1000 genomes]
rs1165534	0.91[EUR][1000 genomes]
rs1165535	0.91[ASN][1000 genomes]
rs1185983	0.91[ASN][1000 genomes]
rs11921801	0.83[EUR][1000 genomes]
rs11921907	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1384198	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1520652	0.87[EUR][1000 genomes]
rs1620897	0.87[EUR][1000 genomes]
rs1623413	0.85[EUR][1000 genomes]
rs1628469	0.85[EUR][1000 genomes]
rs1676343	0.80[EUR][1000 genomes]
rs1676346	0.80[EUR][1000 genomes]
rs1676349	0.80[EUR][1000 genomes]
rs1676366	0.89[EUR][1000 genomes]
rs1680499	0.91[ASN][1000 genomes]
rs1680520	0.87[EUR][1000 genomes]
rs1718278	0.87[EUR][1000 genomes]
rs1718279	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1915309	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2126540	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2245857	0.91[ASN][1000 genomes]
rs2447456	0.96[ASN][1000 genomes]
rs2449249	0.93[ASN][1000 genomes]
rs2449250	0.91[ASN][1000 genomes]
rs2460715	0.91[ASN][1000 genomes]
rs2461498	0.87[EUR][1000 genomes]
rs28364602	0.96[ASN][1000 genomes]
rs3087787	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35685595	0.93[ASN][1000 genomes]
rs3796276	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3821726	0.96[ASN][1000 genomes]
rs4088588	0.85[EUR][1000 genomes]
rs4144968	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4367102	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4928070	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4928081	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4928087	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs510303	0.94[ASN][1000 genomes]
rs560803	0.83[AMR][1000 genomes]
rs586347	0.83[EUR][1000 genomes]
rs59010521	0.95[ASN][1000 genomes]
rs591728	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs603630	0.85[EUR][1000 genomes]
rs605300	0.81[EUR][1000 genomes]
rs610854	0.87[EUR][1000 genomes]
rs629091	0.87[EUR][1000 genomes]
rs6441383	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs648678	0.86[ASN][1000 genomes]
rs653002	0.87[EUR][1000 genomes]
rs6767460	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6770559	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6773482	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6788891	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6789364	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6798180	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs694612	0.87[EUR][1000 genomes]
rs72620018	0.80[ASN][1000 genomes]
rs72620019	0.80[ASN][1000 genomes]
rs72620020	0.80[ASN][1000 genomes]
rs7617579	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7627660	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7635652	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7637272	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7644599	0.80[EUR][1000 genomes]
rs9814836	0.93[ASN][1000 genomes]
rs9843956	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2751965	chr3:100299310-100462527	Enhancers Genic enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	esv2751966	chr3:100299310-100468500	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	esv2751967	chr3:100299329-100455139	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	esv2751968	chr3:100299329-100476713	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv432466	chr3:100299329-100476713	Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv536667	chr3:100308355-100445857	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	esv2751969	chr3:100312499-100479384	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
8	nsv877220	chr3:100324442-100467018	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	nsv591156	chr3:100335088-100451133	Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	nsv591157	chr3:100335088-100455139	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv1006402	chr3:100340056-100446966	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
12	nsv999432	chr3:100340056-100448183	Genic enhancers Strong transcription Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
13	nsv1007437	chr3:100342190-100448183	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
14	esv2751971	chr3:100342493-100468500	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
15	esv2751972	chr3:100342493-100493062	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
16	nsv432469	chr3:100342493-100493062	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
17	nsv1007046	chr3:100350244-100446604	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
18	nsv460787	chr3:100350745-100467018	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
19	nsv591164	chr3:100350745-100467018	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
20	esv2751973	chr3:100354170-100476713	ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
21	esv2751974	chr3:100354170-100476713	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
22	nsv536668	chr3:100354411-100445605	Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
23	nsv536669	chr3:100354611-100445466	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
24	nsv536670	chr3:100354611-100451403	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
25	nsv536672	chr3:100360691-100445466	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7637250	TFG	cis	multi-tissue	Pritchard

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:100429600-100454400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr3:100429800-100454400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr3:100429800-100455200	Weak transcription	Brain Substantia Nigra	brain
4	chr3:100429800-100475000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr3:100430400-100473000	Strong transcription	Fetal Thymus	thymus
6	chr3:100430600-100448200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr3:100431000-100454400	Weak transcription	Rectal Smooth Muscle	rectum
8	chr3:100431200-100473000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr3:100431400-100452400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr3:100432400-100474400	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr3:100432800-100445800	Strong transcription	Rectal Mucosa Donor 31	rectum
12	chr3:100432800-100473600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr3:100433000-100472400	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr3:100433200-100451800	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr3:100433800-100450400	Strong transcription	Primary hematopoietic stem cells	blood
16	chr3:100434400-100478200	Weak transcription	Spleen	Spleen
17	chr3:100435600-100455400	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr3:100436000-100474400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr3:100436200-100445800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr3:100436600-100471600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr3:100436800-100473000	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr3:100437000-100449000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr3:100437000-100461600	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr3:100437200-100453800	Weak transcription	Small Intestine	intestine
25	chr3:100437400-100472600	Strong transcription	Dnd41	blood
26	chr3:100437600-100475000	Strong transcription	Placenta	Placenta
27	chr3:100437800-100474400	Strong transcription	Duodenum Mucosa	Duodenum
28	chr3:100438000-100446200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr3:100438200-100445600	Strong transcription	HMEC	breast
30	chr3:100438200-100448000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr3:100438200-100449000	Strong transcription	Osteobl	bone
32	chr3:100438400-100446200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr3:100438400-100449000	Strong transcription	Primary neutrophils fromperipheralblood	blood
34	chr3:100438800-100473800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr3:100439200-100445400	Strong transcription	NHDF-Ad	bronchial
36	chr3:100439200-100446000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr3:100439600-100446200	Strong transcription	HUES6 Cell Line	embryonic stem cell
38	chr3:100439600-100449200	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr3:100439600-100449400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr3:100439800-100448800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr3:100440000-100449400	Weak transcription	K562	blood
42	chr3:100440800-100447400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr3:100440800-100449400	Weak transcription	Ovary	ovary
44	chr3:100441000-100449600	Weak transcription	Esophagus	oesophagus
45	chr3:100441000-100452800	Weak transcription	Colonic Mucosa	Colon
46	chr3:100441000-100452800	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr3:100441000-100453000	Weak transcription	Aorta	Aorta
48	chr3:100441000-100456200	Weak transcription	Gastric	stomach
49	chr3:100441000-100458600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr3:100441000-100470800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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