Variant report

Variant	rs10866440
Chromosome Location	chr4:57785786-57785787
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:57772930..57780141-chr4:57782916..57788353,10	K562	blood:
2	chr4:57778640..57781071-chr4:57785641..57787696,2	K562	blood:
3	chr4:57785111..57787952-chr4:57797814..57799523,2	K562	blood:

Variant related genes	Relation type
ENSG00000084093	Chromatin interaction

Extended variants
information (count: 110 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:106)

rs_ID	r²[population]
rs10008356	0.91[ASN][1000 genomes]
rs10030913	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10866441	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1105434	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1107675	0.84[CHB][hapmap];1.00[JPT][hapmap]
rs11730321	0.84[CHB][hapmap];0.93[JPT][hapmap];0.88[ASN][1000 genomes]
rs11730476	0.88[ASN][1000 genomes]
rs11730525	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11734953	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11736192	0.90[ASN][1000 genomes]
rs11736869	0.95[CEU][hapmap];0.92[CHB][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11736965	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11737689	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11932673	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs11933908	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11941568	0.89[EUR][1000 genomes]
rs12500454	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12501224	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12501990	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12502076	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1277287	1.00[JPT][hapmap]
rs13108245	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13113802	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13116564	0.95[ASN][1000 genomes]
rs13119525	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13131605	0.87[ASN][1000 genomes]
rs13136432	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13146960	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13149162	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13150593	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13152476	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13353552	0.94[ASN][1000 genomes]
rs1625691	1.00[JPT][hapmap]
rs17081937	1.00[JPT][hapmap]
rs17087317	0.84[CHB][hapmap];1.00[JPT][hapmap]
rs17087411	0.87[JPT][hapmap]
rs17087414	0.87[JPT][hapmap]
rs1718839	1.00[JPT][hapmap]
rs1877669	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1963666	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2002153	0.92[ASN][1000 genomes]
rs2014870	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2090962	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2228991	0.84[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2412772	0.95[CEU][hapmap];0.80[EUR][1000 genomes]
rs3000	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34124552	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34448457	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35267092	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3733306	0.84[CHB][hapmap];0.93[JPT][hapmap]
rs3796528	0.84[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs3806745	0.84[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs4276341	0.95[ASN][1000 genomes]
rs4864606	0.98[ASN][1000 genomes]
rs4864607	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4864608	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4865156	0.88[ASN][1000 genomes]
rs4865157	0.91[ASN][1000 genomes]
rs4865158	0.90[ASN][1000 genomes]
rs4865159	0.92[ASN][1000 genomes]
rs4865160	0.92[ASN][1000 genomes]
rs4865172	0.91[CEU][hapmap]
rs55822707	0.96[ASN][1000 genomes]
rs56122758	0.89[ASN][1000 genomes]
rs62308110	0.88[ASN][1000 genomes]
rs62308111	0.88[ASN][1000 genomes]
rs62308135	0.98[ASN][1000 genomes]
rs62308136	0.98[ASN][1000 genomes]
rs62308137	0.97[ASN][1000 genomes]
rs62308155	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6554393	0.91[ASN][1000 genomes]
rs6554394	0.91[ASN][1000 genomes]
rs6554397	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6554398	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6554399	0.83[ASN][1000 genomes]
rs6816950	0.88[ASN][1000 genomes]
rs6835102	0.87[ASN][1000 genomes]
rs6835108	0.86[ASN][1000 genomes]
rs6838948	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6839845	0.87[ASN][1000 genomes]
rs6840805	0.88[ASN][1000 genomes]
rs6847086	0.82[JPT][hapmap]
rs6852110	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6854420	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6855212	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6857005	0.87[ASN][1000 genomes]
rs6857226	0.87[ASN][1000 genomes]
rs6858216	0.88[ASN][1000 genomes]
rs71601656	0.82[ASN][1000 genomes]
rs729844	0.95[ASN][1000 genomes]
rs73242609	0.98[ASN][1000 genomes]
rs73242616	0.81[ASN][1000 genomes]
rs7661194	1.00[JPT][hapmap]
rs7666804	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7667302	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7667744	0.89[EUR][1000 genomes]
rs7680734	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7685576	0.81[ASN][1000 genomes]
rs7695970	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs781666	1.00[JPT][hapmap]
rs781668	1.00[JPT][hapmap]
rs899630	0.89[EUR][1000 genomes]
rs899631	0.89[EUR][1000 genomes]
rs899632	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9684742	0.95[ASN][1000 genomes]
rs9942208	0.84[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868815	chr4:57114268-58084688	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv1012287	chr4:57652778-57853485	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats 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	26 gene(s)	inside rSNPs	diseases
3	nsv1012125	chr4:57668229-57865803	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	esv3425352	chr4:57783591-57820951	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region lncRNA miRNA target site	3 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	chr4:57775800-57786200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr4:57776400-57789400	Weak transcription	Right Ventricle	heart
3	chr4:57777000-57786400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr4:57777000-57795800	Weak transcription	A549	lung
5	chr4:57777000-57796600	Weak transcription	Fetal Brain Female	brain
6	chr4:57777000-57797000	Weak transcription	Brain Cingulate Gyrus	brain
7	chr4:57777200-57793400	Weak transcription	HMEC	breast
8	chr4:57777200-57796600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr4:57777200-57796600	Weak transcription	Aorta	Aorta
10	chr4:57777200-57796800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr4:57777200-57797200	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr4:57777400-57786200	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr4:57777600-57785800	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr4:57777600-57796000	Weak transcription	Brain Anterior Caudate	brain
15	chr4:57777600-57796000	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr4:57777600-57796600	Weak transcription	Colonic Mucosa	Colon
17	chr4:57777600-57803200	Weak transcription	NHDF-Ad	bronchial
18	chr4:57777600-57805600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr4:57777600-57806000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr4:57778000-57791800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
21	chr4:57778000-57796000	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr4:57778000-57796000	Weak transcription	Stomach Smooth Muscle	stomach
23	chr4:57778000-57796600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr4:57778000-57797000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr4:57778200-57796200	Weak transcription	Brain Hippocampus Middle	brain
26	chr4:57778200-57796800	Weak transcription	NHLF	lung
27	chr4:57778400-57786200	Weak transcription	HSMM	muscle
28	chr4:57778400-57788600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr4:57778400-57795400	Weak transcription	HSMMtube	muscle
30	chr4:57778400-57796000	Weak transcription	Rectal Smooth Muscle	rectum
31	chr4:57778400-57800200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr4:57778400-57800200	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr4:57778400-57801000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr4:57778800-57795800	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr4:57779000-57804600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr4:57779200-57799200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr4:57779800-57789600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr4:57779800-57796000	Weak transcription	Small Intestine	intestine
39	chr4:57779800-57797600	Weak transcription	Fetal Brain Male	brain
40	chr4:57779800-57799600	Weak transcription	Right Atrium	heart
41	chr4:57780200-57793000	Strong transcription	Cortex derived primary cultured neurospheres	brain
42	chr4:57780400-57800400	Strong transcription	Fetal Thymus	thymus
43	chr4:57780600-57786000	Weak transcription	Fetal Kidney	kidney
44	chr4:57780800-57795600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr4:57780800-57808200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr4:57781000-57791200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr4:57781000-57796800	Weak transcription	Spleen	Spleen
48	chr4:57781000-57799600	Weak transcription	Psoas Muscle	Psoas
49	chr4:57781800-57801400	Strong transcription	Monocytes-CD14+_RO01746	blood
50	chr4:57782200-57785800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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