Variant report

Variant	rs12085377
Chromosome Location	chr1:197081682-197081683
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	chr1:197080735..197084388-chr1:197109840..197112878,3	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10737686	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10801582	0.85[CHB][hapmap];1.00[YRI][hapmap]
rs10801583	0.80[EUR][1000 genomes]
rs10801586	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10801601	1.00[YRI][hapmap]
rs10922151	0.80[EUR][1000 genomes]
rs10922162	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10922167	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10922168	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10922177	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.87[EUR][1000 genomes]
rs10922179	0.87[EUR][1000 genomes]
rs10922181	1.00[YRI][hapmap]
rs12026252	1.00[YRI][hapmap]
rs12028827	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12034362	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12042442	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12075161	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12116643	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs12128631	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12134960	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12137359	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1332660	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1332664	0.82[EUR][1000 genomes]
rs1337170	1.00[YRI][hapmap]
rs1412636	0.80[EUR][1000 genomes]
rs1415210	1.00[YRI][hapmap]
rs1415343	1.00[YRI][hapmap]
rs2298883	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4639796	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4915344	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4915453	1.00[YRI][hapmap]
rs5993	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61819092	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72738632	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7553508	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv873069	chr1:197055925-197109042	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	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
7	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
8	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

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197052200-197083600	Weak transcription	Fetal Stomach	stomach
2	chr1:197052200-197106600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:197052200-197114200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:197054200-197113600	Weak transcription	Fetal Kidney	kidney
5	chr1:197055000-197114200	Weak transcription	Primary B cells from cord blood	blood
6	chr1:197066600-197083600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr1:197067000-197092200	Weak transcription	Fetal Intestine Large	intestine
8	chr1:197070600-197100000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr1:197070800-197085400	Weak transcription	Osteobl	bone
10	chr1:197071000-197084400	Weak transcription	Fetal Heart	heart
11	chr1:197071000-197105400	Strong transcription	Dnd41	blood
12	chr1:197071400-197095800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr1:197071800-197104600	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr1:197072600-197087400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr1:197072600-197104600	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr1:197072600-197107400	Weak transcription	Fetal Intestine Small	intestine
17	chr1:197073000-197104000	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr1:197073000-197115000	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr1:197073600-197098400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr1:197073800-197083400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr1:197073800-197085200	Weak transcription	GM12878-XiMat	blood
22	chr1:197073800-197091400	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr1:197074000-197085400	Weak transcription	HepG2	liver
24	chr1:197074000-197115000	Weak transcription	Fetal Brain Male	brain
25	chr1:197074200-197085000	Weak transcription	NHDF-Ad	bronchial
26	chr1:197074200-197091400	Weak transcription	NHEK	skin
27	chr1:197074200-197102000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr1:197074800-197082200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
29	chr1:197076200-197094000	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr1:197076400-197085200	Weak transcription	NH-A	brain
31	chr1:197076400-197096400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr1:197076600-197084200	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr1:197076600-197085200	Weak transcription	HMEC	breast
34	chr1:197076800-197081800	Weak transcription	Primary hematopoietic stem cells	blood
35	chr1:197077000-197085400	Weak transcription	K562	blood
36	chr1:197077000-197114200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr1:197077200-197082000	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr1:197077200-197083400	Weak transcription	Fetal Muscle Leg	muscle
39	chr1:197077200-197083800	Weak transcription	Fetal Muscle Trunk	muscle
40	chr1:197077200-197090800	Weak transcription	NHLF	lung
41	chr1:197077400-197083000	Weak transcription	Fetal Lung	lung
42	chr1:197077600-197083600	Weak transcription	HUVEC	blood vessel
43	chr1:197077800-197083600	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr1:197077800-197083600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr1:197077800-197084400	Weak transcription	HSMM	muscle
46	chr1:197077800-197084800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr1:197078000-197083800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr1:197078200-197083600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr1:197078200-197100400	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr1:197078400-197082000	Weak transcription	A549	lung

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