Variant report

Variant	rs6878453
Chromosome Location	chr5:37205651-37205652
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr5:37205645-37205761	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
OFD1P17	TF binding region

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10035730	0.84[AMR][1000 genomes]
rs10038960	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10051872	0.91[AMR][1000 genomes]
rs10053828	0.82[AMR][1000 genomes]
rs10069026	0.82[AMR][1000 genomes]
rs10070367	0.82[AMR][1000 genomes]
rs10072236	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10077748	0.81[AMR][1000 genomes]
rs10079237	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10214226	1.00[EUR][1000 genomes]
rs10214352	0.91[AMR][1000 genomes]
rs10440646	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11949393	1.00[EUR][1000 genomes]
rs11949707	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13356505	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13359358	0.91[AMR][1000 genomes]
rs16903599	0.91[AMR][1000 genomes]
rs1833828	1.00[EUR][1000 genomes]
rs2366166	0.82[AMR][1000 genomes]
rs28429963	1.00[EUR][1000 genomes]
rs28609469	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57061844	1.00[EUR][1000 genomes]
rs57402531	1.00[EUR][1000 genomes]
rs57591687	1.00[EUR][1000 genomes]
rs58701977	1.00[EUR][1000 genomes]
rs59713841	1.00[EUR][1000 genomes]
rs60213369	1.00[EUR][1000 genomes]
rs60605472	1.00[EUR][1000 genomes]
rs6871254	0.91[AMR][1000 genomes]
rs6878728	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs6887309	0.82[AMR][1000 genomes]
rs6888095	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs768220	0.82[AMR][1000 genomes]
rs7712722	0.82[AMR][1000 genomes]
rs7728794	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7728893	0.82[AMR][1000 genomes]
rs7730242	0.82[AMR][1000 genomes]
rs9292650	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525478	chr5:36804225-37349895	Strong transcription Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	esv1793961	chr5:36866835-37361728	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
3	nsv530225	chr5:36886635-37331912	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv1024051	chr5:36899712-37303001	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv537725	chr5:36899712-37303001	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv530226	chr5:36906377-37606367	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
7	esv1802391	chr5:36958598-37242600	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv534064	chr5:37054962-37586210	Active TSS Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats 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	44 gene(s)	inside rSNPs	diseases
9	nsv881511	chr5:37088627-37552852	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
10	nsv597823	chr5:37111565-37430365	Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
11	nsv1026554	chr5:37112133-37734859	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
12	nsv537726	chr5:37112133-37734859	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
13	nsv1025988	chr5:37115142-37586211	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
14	nsv537727	chr5:37115142-37586211	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
15	nsv830265	chr5:37152221-37312233	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
16	nsv530227	chr5:37157106-37571999	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers 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	42 gene(s)	inside rSNPs	diseases
17	nsv968904	chr5:37170434-37231344	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
18	nsv880406	chr5:37173930-37345270	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
19	nsv880839	chr5:37173930-37465126	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
20	nsv948741	chr5:37179341-37582164	Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
21	nsv949716	chr5:37179341-37967352	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37113600-37222200	Weak transcription	Psoas Muscle	Psoas
2	chr5:37161000-37207200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:37166400-37213600	Weak transcription	HepG2	liver
4	chr5:37169600-37214600	Weak transcription	Fetal Heart	heart
5	chr5:37170400-37235600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr5:37171400-37209000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr5:37171600-37208200	Weak transcription	Gastric	stomach
8	chr5:37171600-37249000	Weak transcription	Spleen	Spleen
9	chr5:37172200-37207600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:37172200-37225000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr5:37173400-37209200	Weak transcription	NHEK	skin
12	chr5:37174000-37229600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr5:37175400-37209000	Weak transcription	Colonic Mucosa	Colon
14	chr5:37175400-37209000	Weak transcription	Esophagus	oesophagus
15	chr5:37175600-37209000	Weak transcription	Right Ventricle	heart
16	chr5:37178600-37209000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr5:37183600-37214800	Weak transcription	A549	lung
18	chr5:37184400-37214600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr5:37185200-37226000	Weak transcription	HMEC	breast
20	chr5:37186400-37220600	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr5:37188000-37213400	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr5:37190800-37221600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr5:37192000-37212200	Weak transcription	Brain Substantia Nigra	brain
24	chr5:37193600-37209000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr5:37195000-37209000	Weak transcription	Ovary	ovary
26	chr5:37195600-37208800	Weak transcription	Fetal Intestine Small	intestine
27	chr5:37195800-37208000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr5:37196800-37210200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr5:37197800-37208000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr5:37197800-37216000	Weak transcription	Pancreas	Pancrea
31	chr5:37197800-37217800	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr5:37198000-37207200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr5:37198000-37208000	Weak transcription	Lung	lung
34	chr5:37198400-37207200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr5:37198400-37209000	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr5:37198400-37209200	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr5:37198400-37211000	Weak transcription	Colon Smooth Muscle	Colon
38	chr5:37198400-37236200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr5:37198600-37208400	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr5:37198600-37208800	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr5:37198600-37208800	Weak transcription	HUVEC	blood vessel
42	chr5:37198600-37209000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr5:37198600-37209000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr5:37198600-37209000	Weak transcription	Duodenum Mucosa	Duodenum
45	chr5:37198600-37209000	Weak transcription	Fetal Kidney	kidney
46	chr5:37198600-37209000	Weak transcription	NH-A	brain
47	chr5:37198600-37209200	Weak transcription	Small Intestine	intestine
48	chr5:37198600-37226400	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr5:37198600-37226400	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr5:37198800-37208800	Weak transcription	Primary B cells from cord blood	blood

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