Variant report

Variant	rs2631601
Chromosome Location	chr7:129527962-129527963
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:129524986..129526488-chr7:129526523..129528805,2	K562	blood:

Extended variants
information (count: 86 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs12530557	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12531622	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12531936	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12532612	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12532959	0.92[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12533033	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12533290	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12533464	0.95[EUR][1000 genomes]
rs12533528	1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12533953	0.91[CEU][hapmap];0.87[EUR][1000 genomes]
rs12534043	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12534061	0.84[CEU][hapmap];1.00[CHB][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12534320	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12535347	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12535722	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12535728	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12535857	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12536424	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12536978	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12537150	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12537336	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12537576	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12537604	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12537660	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12537782	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12538787	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12539145	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12539653	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12539800	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12540479	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12540517	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12540541	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12690	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1464970	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1464971	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1464972	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1471874	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1471877	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1725079	0.83[AFR][1000 genomes]
rs17559301	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1965567	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1965568	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2255639	0.96[LWK][hapmap];0.87[MKK][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs2693722	0.93[YRI][hapmap]
rs2693742	0.88[AFR][1000 genomes]
rs2693746	0.93[AFR][1000 genomes]
rs2693747	0.93[YRI][hapmap]
rs2708653	1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs2727457	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2727465	0.90[AFR][1000 genomes]
rs2727467	0.96[LWK][hapmap];0.88[MKK][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs2727476	0.96[LWK][hapmap];0.86[MKK][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs2727501	0.93[YRI][hapmap]
rs34930431	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35189138	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55675451	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55732825	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55735840	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55748031	0.97[EUR][1000 genomes]
rs55767113	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55769831	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55772531	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55798026	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55809128	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56022754	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56025626	0.93[EUR][1000 genomes]
rs56034137	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56080853	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56085705	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56094908	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56117230	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56153730	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56167610	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56176516	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56191413	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56321762	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56332361	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56333543	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56376893	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56381627	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56408895	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs718925	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs718926	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7639	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533849	chr7:129462947-129616625	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv831129	chr7:129525406-129702477	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129475000-129534800	Weak transcription	Colonic Mucosa	Colon
2	chr7:129479400-129543600	Weak transcription	Thymus	Thymus
3	chr7:129497000-129536800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr7:129503200-129529000	Weak transcription	Gastric	stomach
5	chr7:129503400-129538400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:129505600-129529600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr7:129505600-129545600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr7:129506000-129542800	Weak transcription	Small Intestine	intestine
9	chr7:129509600-129541000	Weak transcription	Spleen	Spleen
10	chr7:129510600-129541000	Weak transcription	Esophagus	oesophagus
11	chr7:129511200-129529000	Weak transcription	Brain Germinal Matrix	brain
12	chr7:129511200-129529600	Weak transcription	Brain Substantia Nigra	brain
13	chr7:129512000-129529600	Weak transcription	Fetal Stomach	stomach
14	chr7:129513200-129548600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr7:129513800-129529600	Weak transcription	Fetal Intestine Small	intestine
16	chr7:129516000-129529400	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr7:129516200-129529000	Weak transcription	Aorta	Aorta
18	chr7:129516200-129529000	Weak transcription	Stomach Smooth Muscle	stomach
19	chr7:129516200-129542800	Weak transcription	HSMMtube	muscle
20	chr7:129516200-129584400	Weak transcription	Fetal Brain Male	brain
21	chr7:129516400-129528000	Weak transcription	Rectal Smooth Muscle	rectum
22	chr7:129516600-129528800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr7:129517200-129529200	Weak transcription	Fetal Lung	lung
24	chr7:129517400-129543800	Weak transcription	Primary hematopoietic stem cells	blood
25	chr7:129518000-129529000	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr7:129518000-129537200	Weak transcription	Brain Angular Gyrus	brain
27	chr7:129518000-129537200	Weak transcription	Brain Cingulate Gyrus	brain
28	chr7:129518000-129545200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr7:129518200-129529000	Weak transcription	Brain Anterior Caudate	brain
30	chr7:129518200-129529000	Weak transcription	Right Ventricle	heart
31	chr7:129518200-129529200	Weak transcription	Brain Hippocampus Middle	brain
32	chr7:129518200-129542600	Weak transcription	Fetal Muscle Trunk	muscle
33	chr7:129518200-129557200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr7:129518200-129564600	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr7:129518400-129529000	Weak transcription	Lung	lung
36	chr7:129518400-129529000	Weak transcription	Right Atrium	heart
37	chr7:129518400-129529000	Weak transcription	HepG2	liver
38	chr7:129518400-129529400	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr7:129518400-129536200	Weak transcription	Psoas Muscle	Psoas
40	chr7:129518400-129538000	Weak transcription	Duodenum Mucosa	Duodenum
41	chr7:129519200-129535000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr7:129519400-129546400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr7:129519600-129546400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr7:129520800-129531600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr7:129520800-129535000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr7:129520800-129535800	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr7:129520800-129541400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr7:129520800-129545600	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr7:129520800-129551200	Weak transcription	Placenta	Placenta
50	chr7:129521000-129529000	Weak transcription	GM12878-XiMat	blood

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