Variant report

Variant	rs1217377
Chromosome Location	chr1:114345750-114345751
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:114303216..114304873-chr1:114343722..114346617,2	K562	blood:
2	chr1:114299841..114303516-chr1:114345652..114349998,8	MCF-7	breast:
3	chr1:114335674..114337289-chr1:114344913..114347646,2	MCF-7	breast:
4	chr1:114336082..114338962-chr1:114345301..114348868,4	K562	blood:
5	chr1:114344419..114346112-chr1:114376286..114378764,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000116793	Chromatin interaction

Extended variants
information (count: 126 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:121)

rs_ID	r²[population]
rs10858011	0.82[CEU][hapmap];0.81[JPT][hapmap];0.85[YRI][hapmap]
rs10858017	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10858018	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10858019	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10858021	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11102661	0.84[EUR][1000 genomes]
rs11102669	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11102689	0.82[EUR][1000 genomes]
rs11102691	0.95[CEU][hapmap];0.80[CHB][hapmap];0.85[JPT][hapmap];0.85[YRI][hapmap];0.88[EUR][1000 genomes]
rs1113523	0.80[EUR][1000 genomes]
rs1146182	1.00[CEU][hapmap];0.80[CHB][hapmap];0.85[YRI][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1146187	1.00[CEU][hapmap];0.81[CHB][hapmap];0.81[JPT][hapmap];0.85[YRI][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12041547	0.83[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12044534	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12060836	0.85[YRI][hapmap]
rs12061482	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12063216	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12069381	0.85[YRI][hapmap]
rs12071676	0.85[YRI][hapmap]
rs12094790	0.85[YRI][hapmap]
rs1217192	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs1217193	1.00[CEU][hapmap];0.81[JPT][hapmap];0.84[EUR][1000 genomes]
rs1217199	0.82[CEU][hapmap];0.80[EUR][1000 genomes]
rs1217200	1.00[CEU][hapmap];0.81[CHB][hapmap];0.81[JPT][hapmap];0.84[EUR][1000 genomes]
rs1217201	0.80[EUR][1000 genomes]
rs1217203	0.80[EUR][1000 genomes]
rs1217204	0.80[EUR][1000 genomes]
rs1217210	0.90[EUR][1000 genomes]
rs1217211	0.83[CEU][hapmap];0.81[JPT][hapmap]
rs1217223	0.80[EUR][1000 genomes]
rs1217227	0.80[EUR][1000 genomes]
rs1217228	0.80[EUR][1000 genomes]
rs1217232	0.80[EUR][1000 genomes]
rs1217233	0.80[EUR][1000 genomes]
rs1217234	0.80[EUR][1000 genomes]
rs1217235	0.80[EUR][1000 genomes]
rs1217236	0.80[EUR][1000 genomes]
rs1217237	0.80[EUR][1000 genomes]
rs1217376	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1217380	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1217386	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1217388	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1217389	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1217395	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1217396	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1217407	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.86[YRI][hapmap];0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1217410	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1217412	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1217413	0.82[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1217415	0.95[CEU][hapmap];0.81[CHB][hapmap]
rs1217416	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1217421	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1230637	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1230638	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1230639	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1230640	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1230642	0.83[ASN][1000 genomes]
rs1230645	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.82[YRI][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1230646	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1230647	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1230649	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1230655	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1230656	0.81[EUR][1000 genomes]
rs1230658	1.00[CEU][hapmap];0.81[CHB][hapmap];0.81[JPT][hapmap];0.85[YRI][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1230659	1.00[CEU][hapmap];0.81[CHB][hapmap];0.81[JPT][hapmap];0.85[YRI][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1230661	0.82[CEU][hapmap];0.81[CHB][hapmap];0.81[JPT][hapmap];0.81[EUR][1000 genomes]
rs1230663	0.85[EUR][1000 genomes]
rs1230671	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1230674	0.84[EUR][1000 genomes]
rs1230678	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1230679	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1230683	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1230685	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1230687	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1235687	0.80[EUR][1000 genomes]
rs1235688	0.80[EUR][1000 genomes]
rs1237289	0.83[CEU][hapmap];0.80[EUR][1000 genomes]
rs1237682	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12565589	1.00[CEU][hapmap];0.81[JPT][hapmap];0.85[YRI][hapmap];0.84[EUR][1000 genomes]
rs12566340	0.95[CEU][hapmap];0.85[CHB][hapmap];0.90[JPT][hapmap];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1599971	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17031716	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs1743605	1.00[CEU][hapmap];0.81[CHB][hapmap];0.81[JPT][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1775754	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1777234	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs1777237	1.00[CEU][hapmap];0.81[CHB][hapmap];0.81[JPT][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1777238	0.90[EUR][1000 genomes]
rs1777241	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs1935838	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1936398	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1981319	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2093436	0.91[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2243471	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2295853	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2359167	0.82[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2488457	0.85[CHB][hapmap];0.85[JPT][hapmap];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2488458	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2636002	0.80[EUR][1000 genomes]
rs2636013	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2636014	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2797408	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2797409	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2797412	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2798135	0.89[EUR][1000 genomes]
rs2798138	0.89[EUR][1000 genomes]
rs4145859	0.83[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4423005	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4565712	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4600045	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4838997	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4838998	0.83[ASN][1000 genomes]
rs4839335	0.92[EUR][1000 genomes]
rs61817589	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6537792	1.00[CEU][hapmap];0.81[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6537795	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6663679	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6698586	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7526209	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7529353	0.95[CEU][hapmap];0.85[CHB][hapmap];0.85[JPT][hapmap];0.93[EUR][1000 genomes]
rs7553188	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9429730	1.00[CEU][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.95[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	esv2752424	chr1:114189958-114712958	Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv831093	chr1:114254167-114378235	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	esv1826178	chr1:114331645-114471583	Strong transcription Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
4	esv1842398	chr1:114331645-114471583	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
5	esv1848035	chr1:114331645-114471583	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114303400-114353800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:114309600-114353400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:114319800-114352600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr1:114320000-114354000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:114327400-114348800	Weak transcription	Spleen	Spleen
6	chr1:114327400-114351200	Weak transcription	Fetal Brain Male	brain
7	chr1:114329200-114345800	Weak transcription	Small Intestine	intestine
8	chr1:114329200-114353600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr1:114332000-114346400	Weak transcription	Gastric	stomach
10	chr1:114332000-114346800	Weak transcription	Brain Substantia Nigra	brain
11	chr1:114332400-114346600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr1:114332400-114347200	Weak transcription	Right Atrium	heart
13	chr1:114332400-114353400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr1:114336000-114351200	Weak transcription	Fetal Brain Female	brain
15	chr1:114336200-114351200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr1:114336200-114351200	Weak transcription	HMEC	breast
17	chr1:114336400-114347000	Weak transcription	NHLF	lung
18	chr1:114336600-114347000	Weak transcription	NHEK	skin
19	chr1:114336600-114347200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr1:114336600-114347200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:114336800-114346400	Weak transcription	Psoas Muscle	Psoas
22	chr1:114336800-114348400	Weak transcription	Fetal Stomach	stomach
23	chr1:114336800-114349400	Weak transcription	Lung	lung
24	chr1:114337200-114352600	Weak transcription	Fetal Kidney	kidney
25	chr1:114337600-114346000	Weak transcription	Stomach Mucosa	stomach
26	chr1:114337600-114347000	Weak transcription	Osteobl	bone
27	chr1:114338000-114347000	Weak transcription	Fetal Intestine Small	intestine
28	chr1:114338600-114347000	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr1:114339000-114346800	Weak transcription	HUVEC	blood vessel
30	chr1:114340000-114351800	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr1:114340400-114347000	Weak transcription	HSMM	muscle
32	chr1:114340400-114347000	Weak transcription	NHDF-Ad	bronchial
33	chr1:114340400-114352800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr1:114340600-114346400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr1:114340600-114346400	Weak transcription	Placenta	Placenta
36	chr1:114340600-114346400	Weak transcription	Left Ventricle	heart
37	chr1:114340600-114346400	Weak transcription	Ovary	ovary
38	chr1:114340600-114346600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr1:114340600-114346600	Weak transcription	Fetal Intestine Large	intestine
40	chr1:114340600-114346800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr1:114340600-114346800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr1:114340600-114346800	Weak transcription	A549	lung
43	chr1:114340600-114346800	Weak transcription	HepG2	liver
44	chr1:114340600-114347000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr1:114340600-114347000	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr1:114340600-114347000	Weak transcription	Adipose Nuclei	Adipose
47	chr1:114340600-114347000	Weak transcription	Brain Hippocampus Middle	brain
48	chr1:114340600-114347000	Weak transcription	Duodenum Mucosa	Duodenum
49	chr1:114340600-114347000	Weak transcription	Fetal Lung	lung
50	chr1:114340600-114347000	Weak transcription	NH-A	brain

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