Variant report

Variant	rs543586382
Chromosome Location	chr8:61590816-61590817
allele	A/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	chr8:61590814-61591237	H1-neurons	neurons:	n/a	n/a
2	POLR2A	chr8:61590798-61591570	K562	blood:	n/a	n/a
3	BCLAF1	chr8:61590647-61591239	GM12878	blood:	n/a	chr8:61590872-61590881 chr8:61591105-61591114 chr8:61590987-61591000
4	POLR2A	chr8:61590811-61591155	HCT-116	colon:	n/a	n/a
5	POLR2A	chr8:61590632-61591944	PFSK-1	brain:	n/a	n/a
6	POLR2A	chr8:61590710-61591188	HUVEC	blood vessel:	n/a	n/a
7	POLR2A	chr8:61590678-61593235	MCF-7	breast:	n/a	n/a
8	MAZ	chr8:61590421-61592863	GM12878	blood:	n/a	chr8:61591996-61592006 chr8:61591993-61592002 chr8:61592384-61592393
9	POLR2A	chr8:61590796-61591569	HEK293	kidney:	n/a	n/a
10	ELF1	chr8:61590672-61591255	GM12878	blood:	n/a	chr8:61590881-61590893 chr8:61590938-61590950
11	MAX	chr8:61590587-61591330	A549	lung:	n/a	n/a
12	HCFC1	chr8:61590790-61591189	K562	blood:	n/a	n/a
13	CTCF	chr8:61590742-61590824	Lung_OC	lung:	n/a	n/a
14	POLR2A	chr8:61590723-61593253	GM19193	blood:	n/a	n/a
15	ZNF143	chr8:61590667-61591584	GM12878	blood:	n/a	chr8:61590900-61590918 chr8:61591031-61591041 chr8:61590940-61590950
16	POLR2A	chr8:61590691-61591184	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr8:61590790-61592139	GM12878	blood:	n/a	n/a
18	CREB1	chr8:61590710-61591255	A549	lung:	n/a	chr8:61590907-61590920
19	ELF1	chr8:61590718-61591207	K562	blood:	n/a	chr8:61590881-61590893 chr8:61590938-61590950
20	YY1	chr8:61590646-61591246	HepG2	liver:	n/a	chr8:61591103-61591112 chr8:61590874-61590888
21	CTCF	chr8:61590760-61590910	GM12875	blood:	n/a	n/a
22	POLR2A	chr8:61590743-61591203	K562	blood:	n/a	n/a
23	HA-E2F1	chr8:61590731-61592938	Hela-S3	cervix:	n/a	chr8:61592392-61592402 chr8:61592655-61592667 chr8:61591184-61591193 chr8:61592658-61592667 chr8:61592358-61592367 chr8:61591186-61591195 chr8:61591103-61591112 chr8:61591028-61591037 chr8:61592556-61592565 chr8:61591005-61591014 chr8:61592450-61592459 chr8:61592358-61592370
24	POLR2A	chr8:61590759-61591184	A549	lung:	n/a	n/a
25	CTCF	chr8:61590790-61591209	Spleen_OC	spleen:	n/a	chr8:61591038-61591047 chr8:61590999-61591012
26	E2F6	chr8:61590816-61591144	K562	blood:	n/a	chr8:61591103-61591112 chr8:61591028-61591037 chr8:61591005-61591014
27	POLR2A	chr8:61590757-61591205	HUVEC	blood vessel:	n/a	n/a
28	YY1	chr8:61590802-61591216	GM12878	blood:	n/a	chr8:61591103-61591112 chr8:61590874-61590888
29	CCNT2	chr8:61590709-61593275	K562	blood:	n/a	chr8:61592658-61592667 chr8:61592537-61592546
30	YY1	chr8:61590815-61591257	GM12878	blood:	n/a	chr8:61591103-61591112 chr8:61590874-61590888
31	TBP	chr8:61590773-61591706	K562	blood:	n/a	n/a
32	PAX5	chr8:61590787-61591217	GM12892	blood:	n/a	chr8:61591028-61591037
33	EBF1	chr8:61590686-61591304	GM12878	blood:	n/a	n/a
34	ELF1	chr8:61590734-61591207	K562	blood:	n/a	chr8:61590881-61590893 chr8:61590938-61590950
35	SIN3A	chr8:61590507-61591214	H1-hESC	embryonic stem cell:	n/a	chr8:61590940-61590953 chr8:61590949-61590960
36	HEY1	chr8:61590810-61591191	HepG2	liver:	n/a	chr8:61590935-61590950 chr8:61590875-61590890 chr8:61590994-61591009
37	RAD21	chr8:61590711-61591224	SK-N-SH_RA	brain:	n/a	chr8:61591041-61591051
38	MAX	chr8:61590507-61593417	A549	lung:	n/a	chr8:61591996-61592006 chr8:61591993-61592002 chr8:61592384-61592393
39	POLR2A	chr8:61590585-61592645	Raji	blood:	n/a	n/a
40	HEY1	chr8:61590728-61591186	K562	blood:	n/a	chr8:61590935-61590950 chr8:61590875-61590890 chr8:61590994-61591009
41	MAZ	chr8:61590774-61593381	K562	blood:	n/a	chr8:61591996-61592006 chr8:61591993-61592002 chr8:61592384-61592393
42	GABPA	chr8:61590676-61591180	H1-hESC	embryonic stem cell:	n/a	chr8:61591032-61591041
43	POLR2A	chr8:61590726-61591676	MCF-7	breast:	n/a	n/a
44	POLR2A	chr8:61590729-61593246	GM18951	blood:	n/a	n/a
45	TAF7	chr8:61590756-61591191	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr8:61590654-61591220	GM12892	blood:	n/a	n/a
47	ZBTB7A	chr8:61590712-61590886	HepG2	liver:	n/a	n/a
48	POLR2A	chr8:61590610-61591766	H1-neurons	neurons:	n/a	n/a
49	POLR2A	chr8:61590661-61591219	Hela-S3	cervix:	n/a	n/a
50	POLR2A	chr8:61590791-61591620	GM12891	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:61590787-61590837	HCM	heart:	n/a
2	chr8:61590787-61590837	AG04449	skin:	fetal
3	chr8:61590787-61590837	NB4	blood:	n/a
4	chr8:61590787-61590837	HAEpiC	amniotic membrane:	n/a
5	chr8:61590787-61590837	SKMC	muscle:	n/a
6	chr8:61590787-61590837	HRCEpiC	kidney:	n/a
7	chr8:61590787-61590837	HMEC	breast:	n/a
8	chr8:61590787-61590837	ProgFib	skin:	n/a
9	chr8:61590787-61590837	NH-A	brain:	n/a
10	chr8:61590787-61590837	HEK293	kidney:	embryo
11	chr8:61590787-61590837	HCT-116	colon:	n/a
12	chr8:61590787-61590837	AG04450	lung:	fetal
13	chr8:61590787-61590837	NHDF-neo	bronchial:	n/a
14	chr8:61590787-61590837	GM12878	blood:	n/a
15	chr8:61590787-61590837	GM19239	blood:	n/a
16	chr8:61590787-61590837	PrEC	prostate:	n/a
17	chr8:61590787-61590837	HCF	heart:	n/a
18	chr8:61590787-61590837	RPTEC	kidney:	n/a
19	chr8:61590787-61590837	HIPEpiC	eye:	n/a
20	chr8:61590787-61590837	BJ	skin:	n/a
21	chr8:61590787-61590837	Jurkat	blood:	n/a
22	chr8:61590787-61590837	SAEC	small airway:	n/a
23	chr8:61590787-61590837	MCF10A-Er-Src	breast:	n/a
24	chr8:61590787-61590837	K562	blood:	n/a
25	chr8:61590787-61590837	HRPEpiC	eye:	n/a
26	chr8:61590787-61590837	NT2-D1	testis:	n/a
27	chr8:61590787-61590837	T-47D	breast:	n/a
28	chr8:61590787-61590837	SK-N-MC	brain:	n/a
29	chr8:61590787-61590837	GM12892	blood:	n/a
30	chr8:61590787-61590837	ovcar-3	ovarian:	n/a
31	chr8:61590787-61590837	HCPEpiC	choroid plexus:	n/a
32	chr8:61590787-61590837	PFSK-1	brain:	n/a
33	chr8:61590787-61590837	AoSMC	blood vessel:	n/a
34	chr8:61590787-61590837	MCF-7	breast:	n/a
35	chr8:61590787-61590837	ECC-1	luminal epithelium:	n/a
36	chr8:61590787-61590837	PANC-1	pancreas:	n/a
37	chr8:61590787-61590837	HEEpiC	esophagus:	n/a
38	chr8:61590787-61590837	IMR90	lung:	fetal
39	chr8:61590787-61590837	Caco-2	colon:	n/a
40	chr8:61590787-61590837	AG10803	skin:	n/a
41	chr8:61590787-61590837	SK-N-SH_RA	brain:	n/a
42	chr8:61590787-61590837	H1-hESC	embryonic stem cell:	embryo
43	chr8:61590787-61590837	GM12891	blood:	n/a
44	chr8:61590787-61590837	Hepatocyte	liver:	n/a
45	chr8:61590787-61590837	U87	brain:	n/a
46	chr8:61590787-61590837	A549	lung:	n/a
47	chr8:61590787-61590837	LNCaP	prostate:	n/a
48	chr8:61590787-61590837	HPAEpiC	pulmonary alveolar:	n/a
49	chr8:61590787-61590837	BE2_C	brain:	n/a
50	chr8:61590787-61590837	Hela-S3	cervix:	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:61563005..61568398-chr8:61588453..61593214,14	K562	blood:
2	chr8:61590644..61591624-chrX:119737473..119738364,2	Hela-S3	cervix:
3	chr8:61562515..61568989-chr8:61586860..61594946,37	MCF-7	breast:
4	chr8:61562679..61568216-chr8:61588453..61593754,19	K562	blood:
5	chr2:3605843..3606568-chr8:61590788..61591308,2	Hela-S3	cervix:
6	chr15:51872226..51872785-chr8:61590656..61591256,2	NB4	blood:
7	chr8:61428381..61431496-chr8:61588452..61591900,3	K562	blood:
8	chr8:61429468..61431258-chr8:61590540..61592110,2	MCF-7	breast:
9	chr8:61590410..61592571-chr8:61654156..61656255,3	MCF-7	breast:
10	chr8:61559343..61568621-chr8:61588061..61597189,35	MCF-7	breast:
11	chr16:20911706..20912684-chr8:61590659..61591241,2	Hela-S3	cervix:

Variant related genes	Relation type
CHD7	TF binding region
CHD7	CpG island
ENSG00000171316	Chromatin interaction
ENSG00000102897	Chromatin interaction
ENSG00000251396	Chromatin interaction
ENSG00000254869	Chromatin interaction
ENSG00000188215	Chromatin interaction
ENSG00000234171	Chromatin interaction
ENSG00000171865	Chromatin interaction
ENSG00000232119	Chromatin interaction
ENSG00000104388	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 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	nsv1027929	chr8:61569620-61617812	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv1017564	chr8:61577791-61617812	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
9	nsv824659	chr8:61586207-61596149	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
10	esv3327812	chr8:61590023-61592771	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
11	esv3430598	chr8:61590673-61593396	Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61590000-61593600	Active TSS	Rectal Mucosa Donor 29	rectum
2	chr8:61590000-61593800	Active TSS	Rectal Mucosa Donor 31	rectum
3	chr8:61590000-61593800	Active TSS	HMEC	breast
4	chr8:61590200-61591000	Flanking Active TSS	Primary B cells from cord blood	blood
5	chr8:61590200-61593200	Active TSS	Liver	Liver
6	chr8:61590200-61593600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr8:61590200-61594200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:61590200-61594200	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr8:61590200-61594800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr8:61590400-61591000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
11	chr8:61590400-61591000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr8:61590400-61591000	Active TSS	Stomach Mucosa	stomach
13	chr8:61590400-61591000	Flanking Bivalent TSS/Enh	Dnd41	blood
14	chr8:61590400-61591000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
15	chr8:61590400-61591400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr8:61590400-61591600	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
17	chr8:61590400-61592200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr8:61590400-61592400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr8:61590400-61592600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
20	chr8:61590400-61593200	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr8:61590400-61593200	Active TSS	A549	lung
22	chr8:61590400-61593200	Active TSS	K562	blood
23	chr8:61590400-61593400	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr8:61590400-61593400	Active TSS	Primary T helper cells PMA-I stimulated	--
25	chr8:61590400-61593400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr8:61590400-61593400	Active TSS	Aorta	Aorta
27	chr8:61590400-61593400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
28	chr8:61590400-61593400	Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr8:61590400-61593400	Bivalent/Poised TSS	Fetal Stomach	stomach
30	chr8:61590400-61593400	Active TSS	Placenta Amnion	Placenta Amnion
31	chr8:61590400-61593600	Active TSS	Brain Inferior Temporal Lobe	brain
32	chr8:61590400-61593600	Active TSS	Colon Smooth Muscle	Colon
33	chr8:61590400-61593600	Active TSS	Skeletal Muscle Male	skeletal muscle
34	chr8:61590400-61593600	Active TSS	Skeletal Muscle Female	skeletal muscle
35	chr8:61590400-61593600	Active TSS	Hela-S3	cervix
36	chr8:61590400-61593800	Active TSS	Breast Myoepithelial Primary Cells	Breast
37	chr8:61590400-61593800	Active TSS	Brain Hippocampus Middle	brain
38	chr8:61590400-61593800	Active TSS	Colonic Mucosa	Colon
39	chr8:61590400-61593800	Active TSS	Fetal Intestine Large	intestine
40	chr8:61590400-61593800	Active TSS	Fetal Intestine Small	intestine
41	chr8:61590400-61593800	Active TSS	Rectal Smooth Muscle	rectum
42	chr8:61590400-61593800	Active TSS	GM12878-XiMat	blood
43	chr8:61590400-61593800	Active TSS	HSMMtube	muscle
44	chr8:61590400-61594000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr8:61590400-61594000	Active TSS	Duodenum Mucosa	Duodenum
46	chr8:61590400-61594000	Active TSS	Psoas Muscle	Psoas
47	chr8:61590400-61594000	Active TSS	Right Atrium	heart
48	chr8:61590400-61594000	Active TSS	Right Ventricle	heart
49	chr8:61590400-61594000	Active TSS	Stomach Smooth Muscle	stomach
50	chr8:61590400-61594000	Active TSS	HSMM	muscle

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