Variant report

Variant	rs2253856
Chromosome Location	chr7:107206270-107206271
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:107189106..107191821-chr7:107204481..107207285,3	K562	blood:
2	chr7:107202021..107207492-chr7:107217594..107222531,11	MCF-7	breast:
3	chr7:107204495..107206045-chr7:107206098..107207701,2	MCF-7	breast:
4	chr7:106831294..106833913-chr7:107204882..107206554,2	K562	blood:
5	chr7:107201923..107207041-chr7:107381527..107386474,7	K562	blood:
6	chr7:107202895..107206908-chr7:107531209..107533385,3	K562	blood:
7	chr7:107202748..107209925-chr7:107217558..107222659,11	MCF-7	breast:

Variant related genes	Relation type
ENSG00000091140	Chromatin interaction
ENSG00000272072	Chromatin interaction
ENSG00000075790	Chromatin interaction
ENSG00000105879	Chromatin interaction
ENSG00000272854	Chromatin interaction
ENSG00000164597	Chromatin interaction
ENSG00000241764	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs1015410	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1018869	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1024401	0.96[CEU][hapmap];0.92[EUR][1000 genomes]
rs10244871	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10245210	0.83[EUR][1000 genomes]
rs10267978	0.93[EUR][1000 genomes]
rs10276321	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10953538	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12532304	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1468335	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs1858889	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2237677	0.83[YRI][hapmap];0.81[AFR][1000 genomes]
rs2250410	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2253146	0.83[YRI][hapmap];0.81[AFR][1000 genomes]
rs2253269	0.81[AFR][1000 genomes]
rs2283042	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2520257	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2520258	0.93[EUR][1000 genomes]
rs2520259	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2520262	0.93[EUR][1000 genomes]
rs2520266	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2520270	0.96[EUR][1000 genomes]
rs2520272	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2520276	0.83[EUR][1000 genomes]
rs2520278	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2520279	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2712186	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2712188	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2712192	0.86[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2712194	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2712203	0.92[EUR][1000 genomes]
rs2712213	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2712217	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2712223	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2712225	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28410326	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3779496	0.81[EUR][1000 genomes]
rs4588787	0.81[AMR][1000 genomes]
rs4610672	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4727682	0.96[CEU][hapmap];0.93[EUR][1000 genomes]
rs60490203	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62483724	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6466172	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6466174	0.90[EUR][1000 genomes]
rs6945488	0.85[EUR][1000 genomes]
rs6962433	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6968804	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7786186	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7787113	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7791955	0.82[CEU][hapmap];0.81[EUR][1000 genomes]
rs7805630	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033979	chr7:107003734-107877761	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv1028571	chr7:107114479-107299723	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv539053	chr7:107114479-107299723	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv482365	chr7:107122401-107271861	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv608074	chr7:107179131-107260856	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:107204800-107210600	Weak transcription	Spleen	Spleen
2	chr7:107205000-107210600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr7:107205000-107219600	Weak transcription	Pancreas	Pancrea
4	chr7:107205000-107220000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr7:107205000-107220000	Weak transcription	Gastric	stomach
6	chr7:107205000-107220200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr7:107205000-107220200	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr7:107205200-107206400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr7:107205200-107210400	Weak transcription	Fetal Thymus	thymus
10	chr7:107205200-107210600	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr7:107205200-107210600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr7:107205200-107210600	Weak transcription	Fetal Muscle Trunk	muscle
13	chr7:107205200-107210600	Weak transcription	Fetal Muscle Leg	muscle
14	chr7:107205200-107210600	Weak transcription	Placenta	Placenta
15	chr7:107205200-107210600	Weak transcription	Left Ventricle	heart
16	chr7:107205200-107210800	Weak transcription	Ovary	ovary
17	chr7:107205200-107219600	Weak transcription	Esophagus	oesophagus
18	chr7:107205200-107219600	Weak transcription	Right Ventricle	heart
19	chr7:107205200-107220000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr7:107205200-107220000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr7:107205200-107220000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr7:107205200-107220000	Weak transcription	Lung	lung
23	chr7:107205200-107220000	Weak transcription	Psoas Muscle	Psoas
24	chr7:107205400-107206600	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr7:107205400-107206600	Enhancers	Fetal Heart	heart
26	chr7:107205400-107207600	Weak transcription	Primary B cells from cord blood	blood
27	chr7:107205400-107210600	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr7:107205400-107210800	Weak transcription	Primary B cells from peripheral blood	blood
29	chr7:107205400-107211800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr7:107205400-107219800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr7:107205400-107220000	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr7:107205400-107220000	Weak transcription	Colonic Mucosa	Colon
33	chr7:107205400-107220000	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr7:107205600-107206400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr7:107205600-107206400	Enhancers	HUVEC	blood vessel
36	chr7:107205600-107206600	Enhancers	Hela-S3	cervix
37	chr7:107205600-107206600	Enhancers	HepG2	liver
38	chr7:107205600-107207400	Weak transcription	Primary hematopoietic stem cells	blood
39	chr7:107205600-107208000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr7:107205600-107210000	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr7:107205600-107210000	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr7:107205600-107210200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr7:107205600-107210400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr7:107205600-107210400	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr7:107205600-107210600	Weak transcription	Duodenum Mucosa	Duodenum
46	chr7:107205600-107210600	Weak transcription	Fetal Brain Female	brain
47	chr7:107205600-107210800	Weak transcription	Adipose Nuclei	Adipose
48	chr7:107205600-107210800	Weak transcription	Liver	Liver
49	chr7:107205600-107210800	Weak transcription	Fetal Intestine Large	intestine
50	chr7:107205600-107211600	Weak transcription	H1 Cell Line	embryonic stem cell

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