Variant report

Variant	rs191955524
Chromosome Location	chr8:61566721-61566722
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	RCOR1	chr8:61565729-61566736	Hela-S3	cervix:	n/a	n/a
2	MXI1	chr8:61566309-61566964	Hela-S3	cervix:	n/a	n/a
3	MAX	chr8:61564128-61567062	Hela-S3	cervix:	n/a	n/a
4	MTA3	chr8:61565664-61566800	GM12878	blood:	n/a	n/a
5	SPI1	chr8:61566251-61566768	GM12878	blood:	n/a	n/a
6	GTF2F1	chr8:61565780-61566965	Hela-S3	cervix:	n/a	n/a
7	HCFC1	chr8:61563509-61566895	Hela-S3	cervix:	n/a	n/a
8	MAX	chr8:61565572-61566759	MCF-7	breast:	n/a	n/a
9	TCF7L2	chr8:61565675-61566793	Hela-S3	cervix:	n/a	n/a
10	ELF1	chr8:61565623-61566786	GM12878	blood:	n/a	n/a
11	NFYB	chr8:61566492-61566743	GM12878	blood:	n/a	n/a
12	HA-E2F1	chr8:61563994-61566764	MCF-7	breast:	n/a	chr8:61564796-61564806 chr8:61564908-61564917 chr8:61564323-61564338 chr8:61564992-61565002 chr8:61564986-61564995 chr8:61564451-61564461 chr8:61564295-61564304 chr8:61565116-61565127 chr8:61564888-61564897
13	PAX5	chr8:61566293-61566742	GM12878	blood:	n/a	n/a
14	RUNX3	chr8:61565885-61566960	GM12878	blood:	n/a	chr8:61566545-61566560
15	PML	chr8:61565858-61566722	GM12878	blood:	n/a	n/a
16	POLR2A	chr8:61564015-61566861	GM12891	blood:	n/a	n/a
17	ELF1	chr8:61565930-61566744	GM12878	blood:	n/a	n/a
18	POLR2A	chr8:61566620-61566730	MCF10A-Er-Src	breast:	n/a	n/a
19	RUNX3	chr8:61565496-61566736	GM12878	blood:	n/a	chr8:61566545-61566560
20	MAX	chr8:61563924-61566771	HCT-116	colon:	n/a	n/a
21	POLR2A	chr8:61565547-61566811	H1-neurons	neurons:	n/a	n/a
22	RFX5	chr8:61565774-61566741	Hela-S3	cervix:	n/a	n/a
23	TCF12	chr8:61565809-61566925	A549	lung:	n/a	n/a
24	POLR2A	chr8:61564000-61566738	Raji	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:61562515..61568989-chr8:61586860..61594946,37	MCF-7	breast:
2	chr8:61559343..61568621-chr8:61588061..61597189,35	MCF-7	breast:
3	chr8:61563005..61568398-chr8:61588453..61593214,14	K562	blood:
4	chr8:61562433..61567496-chr8:61571905..61575539,5	K562	blood:
5	chr8:61562616..61568326-chr8:61569044..61575643,11	MCF-7	breast:
6	chr8:61563620..61565259-chr8:61566551..61570060,3	K562	blood:
7	chr8:61562679..61568216-chr8:61588453..61593754,19	K562	blood:

Variant related genes	Relation type
ENSG00000254869	TF binding region
ENSG00000255289	Chromatin interaction
ENSG00000171316	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv530383	chr8:61431756-61605551	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv831335	chr8:61497540-61688992	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv890945	chr8:61522008-61707725	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv824657	chr8:61555227-61626758	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
6	nsv824658	chr8:61561488-61612108	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
7	nsv525495	chr8:61566655-61568210	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61563400-61566800	Active TSS	Sigmoid Colon	Sigmoid Colon
2	chr8:61563400-61567200	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr8:61563600-61566800	Active TSS	Breast Myoepithelial Primary Cells	Breast
4	chr8:61563600-61566800	Active TSS	Placenta Amnion	Placenta Amnion
5	chr8:61563600-61566800	Active TSS	Psoas Muscle	Psoas
6	chr8:61563600-61566800	Active TSS	Right Ventricle	heart
7	chr8:61563800-61566800	Active TSS	Brain Anterior Caudate	brain
8	chr8:61563800-61566800	Active TSS	Brain Hippocampus Middle	brain
9	chr8:61563800-61566800	Active TSS	Brain Substantia Nigra	brain
10	chr8:61563800-61566800	Active TSS	Fetal Intestine Large	intestine
11	chr8:61563800-61566800	Active TSS	GM12878-XiMat	blood
12	chr8:61564000-61566800	Active TSS	Gastric	stomach
13	chr8:61564200-61566800	Active TSS	Primary T helper naive cells from peripheral blood	blood
14	chr8:61564200-61566800	Active TSS	Primary T killer memory cells from peripheral blood	blood
15	chr8:61564400-61566800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr8:61565000-61566800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr8:61565000-61566800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr8:61565200-61566800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
19	chr8:61565200-61566800	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
20	chr8:61565200-61567000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
21	chr8:61565200-61567000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
22	chr8:61565200-61567000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
23	chr8:61565400-61566800	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
24	chr8:61565400-61566800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
25	chr8:61565400-61566800	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr8:61565400-61566800	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
27	chr8:61565400-61567000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr8:61565600-61566800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
29	chr8:61565600-61566800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
30	chr8:61565600-61566800	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
31	chr8:61565600-61566800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
32	chr8:61565600-61566800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
33	chr8:61565600-61566800	Bivalent/Poised TSS	HepG2	liver
34	chr8:61565600-61566800	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
35	chr8:61565600-61567000	Bivalent/Poised TSS	Fetal Kidney	kidney
36	chr8:61565800-61566800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
37	chr8:61565800-61566800	Bivalent/Poised TSS	Primary T cells from cord blood	blood
38	chr8:61565800-61566800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
39	chr8:61565800-61566800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
40	chr8:61565800-61566800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
41	chr8:61565800-61566800	Active TSS	Brain Angular Gyrus	brain
42	chr8:61565800-61566800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
43	chr8:61565800-61567000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
44	chr8:61566000-61566800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
45	chr8:61566000-61566800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
46	chr8:61566000-61566800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr8:61566000-61566800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr8:61566000-61566800	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr8:61566000-61566800	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr8:61566000-61566800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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