Variant report

Variant	rs671992
Chromosome Location	chr6:35890137-35890138
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HNF4A	chr6:35890016-35890463	HepG2	liver:	n/a	chr6:35890224-35890236
2	MAZ	chr6:35890104-35890440	HepG2	liver:	n/a	n/a
3	HEY1	chr6:35889864-35890311	HepG2	liver:	n/a	n/a
4	POLR2A	chr6:35889956-35890313	HepG2	liver:	n/a	n/a
5	TCF7L2	chr6:35889744-35890314	HepG2	liver:	n/a	n/a
6	HEY1	chr6:35889843-35890339	HepG2	liver:	n/a	n/a
7	HNF4A	chr6:35890033-35890440	HepG2	liver:	n/a	chr6:35890224-35890236
8	HNF4G	chr6:35889951-35890531	HepG2	liver:	n/a	chr6:35890223-35890238 chr6:35890224-35890236
9	UBTF	chr6:35890042-35890188	K562	blood:	n/a	n/a
10	HDAC2	chr6:35889905-35890476	HepG2	liver:	n/a	n/a
11	TEAD4	chr6:35889982-35890714	HepG2	liver:	n/a	n/a
12	POLR2A	chr6:35889892-35890350	HepG2	liver:	n/a	n/a
13	EP300	chr6:35889866-35890555	HepG2	liver:	n/a	n/a
14	HNF4G	chr6:35889971-35890460	HepG2	liver:	n/a	chr6:35890223-35890238 chr6:35890224-35890236
15	MYBL2	chr6:35889709-35890501	HepG2	liver:	n/a	chr6:35890135-35890150 chr6:35890143-35890153 chr6:35890137-35890152
16	BHLHE40	chr6:35890035-35890145	K562	blood:	n/a	n/a
17	FOXA2	chr6:35889870-35890425	HepG2	liver:	n/a	n/a
18	POLR2A	chr6:35889867-35890307	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:27324243..27326637-chr6:35887924..35890289,2	MCF-7	breast:
2	chr6:35888094..35890859-chr6:36167243..36169952,2	K562	blood:
3	chr6:35889868..35892121-chr6:35927053..35928934,3	K562	blood:

Variant related genes	Relation type
SRPK1	TF binding region
ENSG00000096070	Chromatin interaction
ENSG00000077238	Chromatin interaction

Extended variants
information (count: 143 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:141)

rs_ID	r²[population]
rs10484264	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes]
rs1049649	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs10947572	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs10947574	0.85[EUR][1000 genomes]
rs10947576	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1160827	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1160828	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11751893	0.84[CEU][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11755072	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11755428	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11964319	0.88[EUR][1000 genomes]
rs11968149	0.81[EUR][1000 genomes]
rs12528878	0.85[EUR][1000 genomes]
rs1326752	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs1326753	0.83[EUR][1000 genomes]
rs1326756	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs17653835	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs17654270	0.85[EUR][1000 genomes]
rs17705020	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs1887170	0.88[EUR][1000 genomes]
rs2038962	0.82[EUR][1000 genomes]
rs2051647	0.89[CEU][hapmap];0.88[JPT][hapmap];0.84[EUR][1000 genomes]
rs2148533	0.85[EUR][1000 genomes]
rs2182546	0.81[EUR][1000 genomes]
rs2250151	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2301510	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2395638	0.84[EUR][1000 genomes]
rs2395640	0.89[CEU][hapmap];0.88[JPT][hapmap];0.85[EUR][1000 genomes]
rs2395641	1.00[CEU][hapmap];0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2395643	0.83[EUR][1000 genomes]
rs2395644	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2395645	0.84[EUR][1000 genomes]
rs2395646	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2766519	0.81[EUR][1000 genomes]
rs2766520	0.81[EUR][1000 genomes]
rs2766521	0.82[EUR][1000 genomes]
rs2766525	0.83[EUR][1000 genomes]
rs2817022	0.81[EUR][1000 genomes]
rs2817023	0.84[EUR][1000 genomes]
rs2817027	0.84[CEU][hapmap];0.81[JPT][hapmap]
rs3213580	0.86[CEU][hapmap]
rs3891863	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs3997732	0.86[EUR][1000 genomes]
rs4340986	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs582526	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59190698	0.85[EUR][1000 genomes]
rs595591	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs613540	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs619264	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs637661	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs639421	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs640867	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs644229	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6457857	0.83[EUR][1000 genomes]
rs6457858	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs6457859	0.82[EUR][1000 genomes]
rs6457860	0.82[EUR][1000 genomes]
rs6457862	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs6457864	0.84[EUR][1000 genomes]
rs657036	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs659532	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs661337	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs661658	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs662713	0.85[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs668438	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs675664	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs677937	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6905144	0.83[EUR][1000 genomes]
rs6908433	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6910906	0.84[EUR][1000 genomes]
rs6911849	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs6916941	0.88[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs6921531	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6922695	0.82[EUR][1000 genomes]
rs6923015	0.88[CEU][hapmap];0.88[JPT][hapmap];0.83[EUR][1000 genomes]
rs6923312	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6926156	0.85[EUR][1000 genomes]
rs6929493	0.88[CEU][hapmap];0.83[CHB][hapmap];0.94[JPT][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6931888	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs6932973	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs6933287	0.80[EUR][1000 genomes]
rs721694	0.84[EUR][1000 genomes]
rs72919002	0.90[EUR][1000 genomes]
rs7740886	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs7744924	0.84[EUR][1000 genomes]
rs7749862	0.84[EUR][1000 genomes]
rs7752545	0.89[CEU][hapmap];0.88[JPT][hapmap];0.84[EUR][1000 genomes]
rs7752551	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs7755600	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7758042	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs7763752	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7774060	0.84[EUR][1000 genomes]
rs7776342	0.82[EUR][1000 genomes]
rs880062	0.84[EUR][1000 genomes]
rs9296166	0.80[EUR][1000 genomes]
rs9296168	0.88[CEU][hapmap];0.88[JPT][hapmap];0.82[EUR][1000 genomes]
rs9462125	0.83[EUR][1000 genomes]
rs9462127	0.82[EUR][1000 genomes]
rs9462128	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs9462131	0.84[EUR][1000 genomes]
rs9462132	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs9462133	0.84[EUR][1000 genomes]
rs9462134	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs9462135	0.89[CEU][hapmap];0.88[JPT][hapmap];0.84[EUR][1000 genomes]
rs9462136	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs9462141	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs9462143	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9462144	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9470111	0.82[EUR][1000 genomes]
rs9470118	0.81[EUR][1000 genomes]
rs9470119	0.82[EUR][1000 genomes]
rs9470120	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs9470121	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs9470122	0.83[EUR][1000 genomes]
rs9470123	0.83[EUR][1000 genomes]
rs9470125	0.83[EUR][1000 genomes]
rs9470126	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs9470130	0.83[EUR][1000 genomes]
rs9470131	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs9470136	0.84[EUR][1000 genomes]
rs9470138	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs9470139	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs9470140	0.85[EUR][1000 genomes]
rs9470141	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs9470142	0.85[EUR][1000 genomes]
rs9470144	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs9470147	0.88[CEU][hapmap];0.88[JPT][hapmap];0.85[EUR][1000 genomes]
rs9470151	0.84[EUR][1000 genomes]
rs9470152	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs9470153	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs9470154	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs9470155	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9470156	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9470157	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9470161	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9470162	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9470166	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9470167	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9470169	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9470172	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9470173	0.83[AMR][1000 genomes];0.85[EUR][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	esv3430300	chr6:35549151-35959004	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv3363467	chr6:35820920-36222197	Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:35886400-35890400	Active TSS	A549	lung
2	chr6:35887000-35890200	Active TSS	Hela-S3	cervix
3	chr6:35888400-35890400	Active TSS	Skeletal Muscle Female	skeletal muscle
4	chr6:35889000-35890400	Flanking Active TSS	Dnd41	blood
5	chr6:35889200-35893800	Weak transcription	Lung	lung
6	chr6:35889200-35898600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr6:35889400-35890200	Enhancers	Primary B cells from peripheral blood	blood
8	chr6:35889400-35890200	Enhancers	Primary T cells fromperipheralblood	blood
9	chr6:35889400-35890200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr6:35889400-35890200	Flanking Active TSS	Duodenum Mucosa	Duodenum
11	chr6:35889400-35890200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
12	chr6:35889400-35893400	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr6:35889400-35893600	Weak transcription	Esophagus	oesophagus
14	chr6:35889400-35893800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr6:35889400-35895600	Weak transcription	Placenta	Placenta
16	chr6:35889400-35898600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr6:35889600-35890200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr6:35889600-35890200	Enhancers	Brain Hippocampus Middle	brain
19	chr6:35889600-35890200	Flanking Active TSS	Fetal Intestine Large	intestine
20	chr6:35889600-35890600	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr6:35889600-35890800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr6:35889800-35890200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr6:35889800-35890200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr6:35889800-35890200	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr6:35889800-35890200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr6:35889800-35890200	Enhancers	Adipose Nuclei	Adipose
27	chr6:35889800-35890200	Enhancers	Brain Anterior Caudate	brain
28	chr6:35889800-35890200	Flanking Active TSS	Colonic Mucosa	Colon
29	chr6:35889800-35890200	Enhancers	Colon Smooth Muscle	Colon
30	chr6:35889800-35890200	Flanking Active TSS	Fetal Thymus	thymus
31	chr6:35889800-35890400	Weak transcription	Right Atrium	heart
32	chr6:35889800-35890600	Enhancers	Brain Angular Gyrus	brain
33	chr6:35889800-35890600	Enhancers	Thymus	Thymus
34	chr6:35889800-35890800	Flanking Active TSS	HepG2	liver
35	chr6:35889800-35891000	Enhancers	Fetal Intestine Small	intestine
36	chr6:35889800-35893600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr6:35889800-35893800	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr6:35889800-35901600	Weak transcription	Psoas Muscle	Psoas
39	chr6:35890000-35890200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
40	chr6:35890000-35890200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr6:35890000-35890200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr6:35890000-35890200	Enhancers	Duodenum Smooth Muscle	Duodenum
43	chr6:35890000-35890200	Enhancers	Fetal Muscle Trunk	muscle
44	chr6:35890000-35890200	Enhancers	Gastric	stomach
45	chr6:35890000-35890200	Enhancers	Left Ventricle	heart
46	chr6:35890000-35890200	Enhancers	Right Ventricle	heart
47	chr6:35890000-35890200	Enhancers	Spleen	Spleen
48	chr6:35890000-35890400	Enhancers	Liver	Liver
49	chr6:35890000-35890400	Enhancers	Pancreas	Pancrea
50	chr6:35890000-35890400	Enhancers	Sigmoid Colon	Sigmoid Colon

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