Variant report

Variant	rs7410943
Chromosome Location	chr1:197155021-197155022
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:197153884..197156331-chr1:197167263..197169035,2	K562	blood:
2	chr1:197154600..197157025-chr1:197162185..197164324,3	K562	blood:
3	chr1:197153871..197156046-chr1:197157510..197159147,2	K562	blood:
4	chr1:197152680..197155309-chr1:197165847..197169413,3	MCF-7	breast:

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10732296	0.90[YRI][hapmap]
rs10737688	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10754217	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10801589	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap]
rs10801594	0.93[YRI][hapmap];0.82[AFR][1000 genomes]
rs10922163	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1127661	0.82[JPT][hapmap]
rs1412635	0.89[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap]
rs1611982	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap]
rs2878749	0.82[JPT][hapmap]
rs4244139	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4628533	0.91[ASN][1000 genomes]
rs61819114	0.84[ASN][1000 genomes]
rs61819115	0.91[ASN][1000 genomes]
rs61819116	0.91[ASN][1000 genomes]
rs61819117	0.91[ASN][1000 genomes]
rs61819118	0.91[ASN][1000 genomes]
rs61819119	0.91[ASN][1000 genomes]
rs61819121	0.91[ASN][1000 genomes]
rs61819122	0.91[ASN][1000 genomes]
rs61819124	0.89[ASN][1000 genomes]
rs6677930	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs698859	0.82[JPT][hapmap]
rs72738645	0.84[ASN][1000 genomes]
rs72738652	0.91[ASN][1000 genomes]
rs7520503	0.89[YRI][hapmap];0.80[AFR][1000 genomes]
rs9727516	0.83[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv528460	chr1:196542567-197446702	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv2758990	chr1:196590837-197169772	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv427897	chr1:196590837-197169772	Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	esv2757767	chr1:196977799-197169772	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS 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 miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv873070	chr1:197079671-197165014	Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv873071	chr1:197079671-197187605	Active TSS Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv873072	chr1:197079671-197221248	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
8	nsv548871	chr1:197106604-197168233	Weak transcription Strong transcription Enhancers 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	6 gene(s)	inside rSNPs	diseases
9	nsv873073	chr1:197107074-197221248	Flanking Active TSS Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
End-stage coagulation	23381943	GWAS catalog

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197116600-197169800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:197124600-197155400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:197125200-197156000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr1:197125200-197156400	Weak transcription	Right Ventricle	heart
5	chr1:197125400-197155600	Weak transcription	Fetal Stomach	stomach
6	chr1:197125400-197156200	Weak transcription	Pancreas	Pancrea
7	chr1:197125400-197156400	Weak transcription	Aorta	Aorta
8	chr1:197125400-197156400	Weak transcription	Lung	lung
9	chr1:197125400-197168400	Weak transcription	Psoas Muscle	Psoas
10	chr1:197125600-197160000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:197125600-197169600	Weak transcription	Esophagus	oesophagus
12	chr1:197125800-197158400	Weak transcription	Spleen	Spleen
13	chr1:197126400-197169600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr1:197128200-197161000	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr1:197128400-197157000	Weak transcription	Colonic Mucosa	Colon
16	chr1:197129000-197155400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr1:197130200-197156200	Weak transcription	Rectal Smooth Muscle	rectum
18	chr1:197132400-197156400	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr1:197135200-197161800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:197136000-197161600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr1:197141400-197166200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr1:197142000-197159600	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr1:197142200-197159800	Strong transcription	Fetal Thymus	thymus
24	chr1:197143200-197165800	Weak transcription	Small Intestine	intestine
25	chr1:197143600-197156000	Weak transcription	Thymus	Thymus
26	chr1:197143800-197156000	Weak transcription	HMEC	breast
27	chr1:197144200-197155400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr1:197144400-197155600	Weak transcription	Brain Germinal Matrix	brain
29	chr1:197144400-197158200	Weak transcription	Fetal Intestine Small	intestine
30	chr1:197145200-197157000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr1:197146600-197155400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr1:197146600-197155600	Weak transcription	Gastric	stomach
33	chr1:197146600-197156400	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr1:197146600-197156600	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr1:197147600-197161000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr1:197148400-197160800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr1:197148400-197161200	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr1:197148600-197155800	Weak transcription	Ovary	ovary
39	chr1:197148600-197156400	Weak transcription	HSMMtube	muscle
40	chr1:197148600-197159600	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr1:197148800-197156200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr1:197148800-197161000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr1:197149600-197155600	Weak transcription	Left Ventricle	heart
44	chr1:197149800-197156000	Weak transcription	Stomach Smooth Muscle	stomach
45	chr1:197149800-197156000	Weak transcription	NHEK	skin
46	chr1:197149800-197156800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr1:197149800-197165400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr1:197150000-197155400	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr1:197150200-197155200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr1:197150200-197156000	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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