Variant report

Variant	rs66967250
Chromosome Location	chr8:67340257-67340258
allele	C/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	RCOR1	chr8:67340131-67343104	IMR90	lung:	n/a	n/a
2	POLR2A	chr8:67340200-67341697	GM12891	blood:	n/a	n/a
3	GATA1	chr8:67340042-67341555	PBDE	blood:	n/a	chr8:67340499-67340506 chr8:67340149-67340158
4	MAZ	chr8:67340009-67342628	IMR90	lung:	n/a	chr8:67341276-67341285 chr8:67341277-67341286 chr8:67341277-67341284
5	CHD1	chr8:67340160-67343807	IMR90	lung:	n/a	chr8:67341038-67341048 chr8:67340834-67340844
6	CTCF	chr8:67340062-67342742	SK-N-SH	brain:	n/a	chr8:67340979-67340989 chr8:67340978-67340991
7	SMC3	chr8:67340030-67341610	SK-N-SH	brain:	n/a	chr8:67341044-67341054 chr8:67340978-67340988
8	MYC	chr8:67340097-67342533	A549	lung:	n/a	chr8:67341276-67341285 chr8:67341277-67341286 chr8:67341277-67341284
9	SREBP2	chr8:67340036-67343321	GM12878	blood:	n/a	n/a
10	RAD21	chr8:67340088-67341632	SK-N-SH	brain:	n/a	chr8:67341103-67341116 chr8:67340459-67340471 chr8:67340978-67340988 chr8:67341044-67341054
11	KAP1	chr8:67340252-67340629	U2OS	brain:	n/a	n/a
12	HCFC1	chr8:67339997-67342592	Hela-S3	cervix:	n/a	n/a
13	MXI1	chr8:67340123-67343020	IMR90	lung:	n/a	chr8:67341277-67341286
14	JUN	chr8:67340002-67341734	K562	blood:	n/a	chr8:67341001-67341010 chr8:67340149-67340160
15	POLR2A	chr8:67339979-67340326	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:67023862..67029462-chr8:67339600..67346087,12	MCF-7	breast:
2	chr8:67340059..67341609-chr8:67975911..67978100,2	K562	blood:
3	chr8:67035768..67039915-chr8:67339207..67342855,3	MCF-7	breast:

Variant related genes	Relation type
RRS1	TF binding region
ADHFE1	TF binding region
ENSG00000104218	Chromatin interaction
ENSG00000253190	Chromatin interaction
ENSG00000121022	Chromatin interaction
ENSG00000147573	Chromatin interaction

Extended variants
information (count: 86 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs10504396	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11987071	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11989945	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11992832	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11993412	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11993452	0.97[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11994448	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11995689	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11997195	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11998019	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12541622	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12547412	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12549283	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12549484	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12550686	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16919046	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16919047	0.80[AFR][1000 genomes]
rs16932815	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2098945	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28372872	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3739338	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4737227	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4737228	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4737229	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4737233	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4737785	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4737787	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4737788	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4737793	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4737794	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4737795	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4737796	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4737799	0.82[ASN][1000 genomes]
rs55681208	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55742362	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56176340	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57217048	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs57462183	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57882940	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57925216	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57951167	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59825535	0.86[AMR][1000 genomes]
rs61646267	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6472268	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6472278	0.80[ASN][1000 genomes]
rs66470447	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs66713752	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66716606	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs66779163	0.97[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs66996327	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67015438	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67433773	0.80[ASN][1000 genomes]
rs67436695	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs67443499	0.86[AMR][1000 genomes]
rs67472590	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67556627	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67814353	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67928664	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6985120	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6989573	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6993146	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6994570	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6998057	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6998839	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7001576	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7009437	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7013081	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7014652	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7015791	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72652710	0.86[AMR][1000 genomes]
rs72652713	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72652714	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72652715	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72652728	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72652745	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72652748	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73247981	0.86[AMR][1000 genomes]
rs73247982	0.97[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73249829	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73253606	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7824057	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7828145	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7838277	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7838488	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][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	esv3446467	chr8:66749863-67667068	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh 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	73 gene(s)	inside rSNPs	diseases
2	esv3414665	chr8:66936816-67381935	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67335600-67340400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:67337400-67340400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:67337400-67340400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:67340000-67340400	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr8:67340000-67341400	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr8:67340000-67345200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr8:67340200-67340400	Enhancers	H1 Cell Line	embryonic stem cell
8	chr8:67340200-67340400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr8:67340200-67340400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr8:67340200-67340400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr8:67340200-67340400	Enhancers	Primary B cells from peripheral blood	blood
12	chr8:67340200-67340400	Enhancers	Primary T cells fromperipheralblood	blood
13	chr8:67340200-67340400	Enhancers	Primary hematopoietic stem cells	blood
14	chr8:67340200-67340400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr8:67340200-67340400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr8:67340200-67340400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr8:67340200-67340400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
18	chr8:67340200-67340400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr8:67340200-67340400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr8:67340200-67340400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr8:67340200-67340400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr8:67340200-67340400	Enhancers	Liver	Liver
23	chr8:67340200-67340400	Enhancers	Esophagus	oesophagus
24	chr8:67340200-67340400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr8:67340200-67340400	Active TSS	Fetal Brain Male	brain
26	chr8:67340200-67340400	Enhancers	Fetal Muscle Trunk	muscle
27	chr8:67340200-67340400	Enhancers	Fetal Muscle Leg	muscle
28	chr8:67340200-67340400	Enhancers	Fetal Thymus	thymus
29	chr8:67340200-67340400	Enhancers	Pancreas	Pancrea
30	chr8:67340200-67340400	Enhancers	Psoas Muscle	Psoas
31	chr8:67340200-67340400	Flanking Active TSS	HepG2	liver
32	chr8:67340200-67340400	Active TSS	HMEC	breast
33	chr8:67340200-67340400	Flanking Active TSS	HSMMtube	muscle
34	chr8:67340200-67340400	Enhancers	Monocytes-CD14+_RO01746	blood
35	chr8:67340200-67340400	Enhancers	NH-A	brain
36	chr8:67340200-67340400	Enhancers	NHEK	skin
37	chr8:67340200-67340400	Flanking Active TSS	Osteobl	bone
38	chr8:67340200-67340600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
39	chr8:67340200-67340600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
40	chr8:67340200-67340600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr8:67340200-67340600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
42	chr8:67340200-67340600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr8:67340200-67340600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
44	chr8:67340200-67340600	Enhancers	Primary monocytes fromperipheralblood	blood
45	chr8:67340200-67340600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
46	chr8:67340200-67340600	Flanking Active TSS	Brain Cingulate Gyrus	brain
47	chr8:67340200-67340600	Flanking Active TSS	Brain Hippocampus Middle	brain
48	chr8:67340200-67340600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
49	chr8:67340200-67340600	Flanking Active TSS	Brain Substantia Nigra	brain
50	chr8:67340200-67340600	Flanking Active TSS	Colon Smooth Muscle	Colon

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