Variant report

Variant	rs61183853
Chromosome Location	chr8:60030568-60030569
allele	C/T
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	POLR2A	chr8:60030331-60030582	GM12878	blood:	n/a	n/a
2	CTCF	chr8:60030533-60030633	GM12892	blood:	n/a	n/a
3	POLR2A	chr8:60029823-60030574	PFSK-1	brain:	n/a	n/a
4	CTCF	chr8:60030420-60030570	AG04449	skin:	n/a	n/a
5	ELF1	chr8:60029999-60031146	GM12878	blood:	n/a	n/a
6	POLR2A	chr8:60030546-60031779	H1-hESC	embryonic stem cell:	n/a	n/a
7	GATA2	chr8:60029971-60031737	SH-SY5Y	brain:	n/a	chr8:60029990-60030001
8	CTCF	chr8:60030541-60030579	H1-hESC	embryonic stem cell:	n/a	n/a
9	REST	chr8:60030213-60030588	SK-N-SH	brain:	n/a	n/a
10	SIN3AK20	chr8:60030422-60031083	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr8:60029928-60030784	Gliobla	brain:	n/a	n/a
12	POLR2A	chr8:60030171-60030630	SK-N-SH	brain:	n/a	n/a
13	MXI1	chr8:60029834-60032002	IMR90	lung:	n/a	chr8:60030980-60030995
14	POLR2A	chr8:60026013-60032839	GM12892	blood:	n/a	n/a
15	CTCF	chr8:60030480-60030630	GM12864	blood:	n/a	n/a
16	CTCF	chr8:60030520-60030670	HUVEC	blood vessel:	n/a	n/a
17	CTBP2	chr8:60029997-60031649	H1-hESC	embryonic stem cell:	n/a	n/a
18	REST	chr8:60029630-60032925	H1-neurons	neurons:	n/a	chr8:60030756-60030769 chr8:60031242-60031262 chr8:60030645-60030658
19	SMC3	chr8:60029628-60033412	SK-N-SH	brain:	n/a	chr8:60030234-60030241
20	RAD21	chr8:60030318-60030930	H1-hESC	embryonic stem cell:	n/a	chr8:60030601-60030614
21	POLR2A	chr8:60030236-60030908	SK-N-SH	brain:	n/a	n/a
22	POLR2A	chr8:60029859-60032686	Raji	blood:	n/a	n/a
23	CTCF	chr8:60030500-60030650	GM12865	blood:	n/a	n/a
24	CTCF	chr8:60030460-60030610	AG09319	gingival:	n/a	n/a
25	CTCF	chr8:60030500-60030650	GM12875	blood:	n/a	n/a
26	SIN3A	chr8:60029696-60031833	H1-hESC	embryonic stem cell:	n/a	chr8:60030604-60030617 chr8:60030698-60030709
27	POLR2A	chr8:60030538-60030623	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr8:60029548-60031075	GM12892	blood:	n/a	n/a
29	RAD21	chr8:60029970-60031722	IMR90	lung:	n/a	chr8:60031311-60031324 chr8:60030601-60030614
30	TAF1	chr8:60029879-60031839	SK-N-SH	brain:	n/a	n/a
31	CTCF	chr8:60030480-60030630	GM12871	blood:	n/a	n/a
32	POLR2A	chr8:60029907-60031642	HUVEC	blood vessel:	n/a	n/a
33	SIN3AK20	chr8:60030015-60031500	SK-N-SH	brain:	n/a	n/a
34	CTCF	chr8:60030520-60030670	GM12864	blood:	n/a	n/a
35	RAD21	chr8:60030141-60031528	H1-hESC	embryonic stem cell:	n/a	chr8:60031311-60031324 chr8:60030601-60030614
36	POLR2A	chr8:60029790-60030806	H1-neurons	neurons:	n/a	n/a
37	POLR2A	chr8:60029804-60033039	GM18505	blood:	n/a	n/a
38	POLR2A	chr8:60029683-60031009	GM12892	blood:	n/a	n/a
39	POLR2A	chr8:60029801-60030841	GM12891	blood:	n/a	n/a
40	SIN3AK20	chr8:60030557-60031298	PFSK-1	brain:	n/a	n/a
41	CTCF	chr8:60030535-60030627	GM19240	blood:	n/a	n/a
42	POLR2A	chr8:60029485-60031855	GM12892	blood:	n/a	n/a
43	CTCF	chr8:60030520-60030670	BJ	skin:	n/a	n/a
44	POLR2A	chr8:60029808-60032733	GM15510	blood:	n/a	n/a
45	CTCF	chr8:60030320-60030590	SK-N-SH_RA	brain:	n/a	n/a
46	PAX5	chr8:60030505-60030866	GM12892	blood:	n/a	chr8:60030804-60030813
47	POLR2A	chr8:60029780-60032021	H1-neurons	neurons:	n/a	n/a
48	CTCF	chr8:60030420-60030570	GM06990	blood:	n/a	n/a
49	CTCF	chr8:60030440-60030590	SK-N-SH_RA	brain:	n/a	n/a
50	MXI1	chr8:60027222-60033187	SK-N-SH	brain:	n/a	chr8:60030980-60030995

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:60022747..60025488-chr8:60027934..60030642,2	K562	blood:

Variant related genes	Relation type
ENSG00000167912	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10089655	1.00[EUR][1000 genomes]
rs10110417	1.00[EUR][1000 genomes]
rs12334681	1.00[EUR][1000 genomes]
rs28662120	1.00[EUR][1000 genomes]
rs28723644	0.92[EUR][1000 genomes]
rs73684901	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831327	chr8:60008412-60159152	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv3524312	chr8:60030498-60033446	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv3524313	chr8:60030498-60033446	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:60027400-60031000	Active TSS	Stomach Smooth Muscle	stomach
2	chr8:60027600-60032600	Active TSS	Rectal Mucosa Donor 29	rectum
3	chr8:60027600-60033200	Active TSS	Brain Angular Gyrus	brain
4	chr8:60027600-60033200	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr8:60027800-60032600	Active TSS	Fetal Thymus	thymus
6	chr8:60027800-60032800	Active TSS	Fetal Brain Male	brain
7	chr8:60028000-60032400	Active TSS	Duodenum Mucosa	Duodenum
8	chr8:60028000-60033000	Active TSS	Duodenum Smooth Muscle	Duodenum
9	chr8:60028200-60032600	Active TSS	Colon Smooth Muscle	Colon
10	chr8:60028400-60032600	Active TSS	Rectal Smooth Muscle	rectum
11	chr8:60028400-60033000	Active TSS	Rectal Mucosa Donor 31	rectum
12	chr8:60028400-60033000	Active TSS	NH-A	brain
13	chr8:60028600-60032800	Active TSS	Thymus	Thymus
14	chr8:60029000-60032600	Active TSS	Cortex derived primary cultured neurospheres	brain
15	chr8:60029000-60032800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr8:60029000-60033200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr8:60029200-60031000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
18	chr8:60029200-60032400	Active TSS	Brain Anterior Caudate	brain
19	chr8:60029200-60033000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
20	chr8:60029200-60033000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr8:60029200-60033200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr8:60029400-60032400	Active TSS	Dnd41	blood
23	chr8:60029400-60032600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
24	chr8:60029400-60033000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr8:60029600-60030600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
26	chr8:60029600-60031000	Active TSS	Primary T helper naive cells from peripheral blood	blood
27	chr8:60029600-60031200	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
28	chr8:60029600-60031600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
29	chr8:60029600-60032400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
30	chr8:60029600-60033000	Active TSS	Fetal Kidney	kidney
31	chr8:60029600-60033000	Active TSS	NHDF-Ad	bronchial
32	chr8:60029800-60030600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr8:60029800-60030600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
34	chr8:60029800-60030600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
35	chr8:60029800-60030600	Bivalent/Poised TSS	Brain Substantia Nigra	brain
36	chr8:60029800-60030600	Bivalent/Poised TSS	Left Ventricle	heart
37	chr8:60029800-60030600	Flanking Active TSS	Pancreas	Pancrea
38	chr8:60029800-60030600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
39	chr8:60029800-60030800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr8:60029800-60031000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr8:60029800-60031000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
42	chr8:60029800-60031200	Active TSS	Primary hematopoietic stem cells	blood
43	chr8:60029800-60031200	Bivalent/Poised TSS	Fetal Intestine Small	intestine
44	chr8:60029800-60031400	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
45	chr8:60029800-60031600	Flanking Active TSS	Primary B cells from cord blood	blood
46	chr8:60029800-60031600	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
47	chr8:60029800-60032200	Active TSS	Lung	lung
48	chr8:60029800-60032400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr8:60029800-60032400	Active TSS	Right Ventricle	heart
50	chr8:60029800-60032400	Active TSS	Sigmoid Colon	Sigmoid Colon

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