Variant report

Variant	rs746149
Chromosome Location	chr8:67350920-67350921
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	CTCF	chr8:67350800-67350950	HVMF	connective:	n/a	n/a
2	CTCF	chr8:67350800-67350950	AG04450	lung:	n/a	n/a
3	RAD21	chr8:67350916-67351792	A549	lung:	n/a	chr8:67351680-67351690 chr8:67351318-67351337 chr8:67351320-67351327 chr8:67351321-67351334 chr8:67351679-67351693
4	CTCF	chr8:67350800-67350950	HA-sp	spinal cord:	n/a	n/a
5	SMC3	chr8:67350573-67352206	SK-N-SH	brain:	n/a	chr8:67351319-67351333
6	CTCF	chr8:67350820-67350970	HBMEC	blood vessel:	n/a	n/a
7	CTCF	chr8:67350880-67351030	HepG2	liver:	n/a	n/a
8	CTCF	chr8:67350638-67351923	SK-N-SH	brain:	n/a	chr8:67351318-67351334 chr8:67351322-67351330 chr8:67351319-67351340 chr8:67351317-67351335
9	RAD21	chr8:67350591-67351684	SK-N-SH	brain:	n/a	chr8:67351318-67351337 chr8:67351320-67351327 chr8:67351321-67351334
10	CTCF	chr8:67350900-67351050	HMF	breast:	n/a	n/a
11	CTCF	chr8:67350833-67352836	A549	lung:	n/a	chr8:67351318-67351334 chr8:67351322-67351330 chr8:67351319-67351340 chr8:67351317-67351335
12	CTCF	chr8:67350800-67350950	HCPEpiC	choroid plexus:	n/a	n/a
13	MAZ	chr8:67350832-67352101	IMR90	lung:	n/a	chr8:67351114-67351124
14	CTCF	chr8:67350800-67350950	HPF	lung:	n/a	n/a
15	CTCF	chr8:67350920-67351070	HRE	kidney:	n/a	n/a
16	CTCF	chr8:67350820-67350970	SAEC	small airway:	n/a	n/a
17	CTCF	chr8:67350860-67351010	GM12871	blood:	n/a	n/a
18	CTCF	chr8:67350820-67350970	HCFaa	heart:	n/a	n/a
19	SMC3	chr8:67350868-67351637	HepG2	liver:	n/a	chr8:67351319-67351333
20	CTCF	chr8:67350880-67351030	HMF	breast:	n/a	n/a
21	ZMIZ1	chr8:67350888-67350949	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:67349410..67351285-chr8:67541036..67543466,2	K562	blood:
2	chr8:67344117..67347389-chr8:67347651..67352093,4	MCF-7	breast:
3	chr8:67350888..67351396-chr8:67521337..67521847,2	MCF-7	breast:

Variant related genes	Relation type
ADHFE1	TF binding region
ENSG00000147576	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10092482	0.81[ASN][1000 genomes]
rs10095148	0.94[ASN][1000 genomes]
rs10112574	0.82[ASN][1000 genomes]
rs1030420	0.94[ASN][1000 genomes]
rs10957371	0.85[ASN][1000 genomes]
rs10957375	0.94[ASN][1000 genomes]
rs11775347	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11775711	0.85[ASN][1000 genomes]
rs11778701	0.85[ASN][1000 genomes]
rs11779375	0.82[ASN][1000 genomes]
rs11780639	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11986630	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11991674	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11998720	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12335128	0.84[ASN][1000 genomes]
rs1582808	0.82[ASN][1000 genomes]
rs1978566	0.80[ASN][1000 genomes]
rs2303519	0.84[ASN][1000 genomes]
rs2357892	0.85[ASN][1000 genomes]
rs2884318	0.85[ASN][1000 genomes]
rs35243406	0.81[AMR][1000 genomes]
rs3739334	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3739337	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62511167	0.82[AMR][1000 genomes]
rs62511183	0.81[AMR][1000 genomes]
rs7010700	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7011134	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7014273	0.94[ASN][1000 genomes]
rs7817343	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7818340	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs890514	0.84[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:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67345200-67351000	Weak transcription	Hela-S3	cervix
2	chr8:67345600-67351000	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr8:67345600-67351000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr8:67345600-67351000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr8:67345600-67351000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr8:67345600-67351200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr8:67345600-67351400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr8:67345600-67351400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr8:67345600-67351400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr8:67345600-67351400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr8:67345600-67351400	Weak transcription	Esophagus	oesophagus
12	chr8:67345800-67351000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr8:67345800-67351000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr8:67345800-67351000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr8:67345800-67351200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr8:67345800-67351200	Weak transcription	NHEK	skin
17	chr8:67345800-67351400	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr8:67346000-67351000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr8:67346000-67351000	Weak transcription	HMEC	breast
20	chr8:67346000-67351400	Weak transcription	Colon Smooth Muscle	Colon
21	chr8:67346200-67351000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr8:67346400-67351000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr8:67346400-67351000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr8:67346400-67351200	Weak transcription	Rectal Smooth Muscle	rectum
25	chr8:67346400-67351400	Enhancers	Fetal Heart	heart
26	chr8:67346800-67351000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr8:67346800-67351400	Weak transcription	Brain Angular Gyrus	brain
28	chr8:67347200-67351200	Weak transcription	Aorta	Aorta
29	chr8:67347200-67351200	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr8:67347200-67351400	Weak transcription	Lung	lung
31	chr8:67347600-67351400	Weak transcription	HSMM	muscle
32	chr8:67347800-67351200	Weak transcription	Duodenum Mucosa	Duodenum
33	chr8:67347800-67351400	Weak transcription	Fetal Intestine Small	intestine
34	chr8:67347800-67351400	Weak transcription	Gastric	stomach
35	chr8:67347800-67351400	Weak transcription	HSMMtube	muscle
36	chr8:67348000-67351000	Weak transcription	K562	blood
37	chr8:67348600-67351000	Enhancers	Brain Hippocampus Middle	brain
38	chr8:67348600-67351200	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr8:67348800-67351400	Weak transcription	Fetal Intestine Large	intestine
40	chr8:67349200-67351400	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr8:67349200-67351400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr8:67349200-67351400	Weak transcription	Right Ventricle	heart
43	chr8:67349400-67351200	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr8:67349400-67351400	Weak transcription	Pancreas	Pancrea
45	chr8:67349400-67351400	Weak transcription	Spleen	Spleen
46	chr8:67349400-67351400	Weak transcription	GM12878-XiMat	blood
47	chr8:67349600-67351000	Weak transcription	Primary hematopoietic stem cells	blood
48	chr8:67349600-67351000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr8:67349600-67351000	Enhancers	Monocytes-CD14+_RO01746	blood
50	chr8:67349600-67351200	Weak transcription	Rectal Mucosa Donor 31	rectum

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