Variant report

Variant	rs564571991
Chromosome Location	chr7:103630006-103630007
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	CTCF	chr7:103629860-103630010	SK-N-SH_RA	brain:	n/a	n/a
2	E2F6	chr7:103629747-103630431	K562	blood:	n/a	chr7:103630065-103630075
3	POLR2A	chr7:103629877-103631266	HepG2	liver:	n/a	n/a
4	MYC	chr7:103629672-103630857	K562	blood:	n/a	n/a
5	MAX	chr7:103629554-103631348	HepG2	liver:	n/a	n/a
6	YY1	chr7:103629647-103630297	K562	blood:	n/a	chr7:103630067-103630076 chr7:103630064-103630073 chr7:103630022-103630033 chr7:103630064-103630075
7	GTF2F1	chr7:103629931-103630130	K562	blood:	n/a	n/a
8	E2F6	chr7:103629052-103631196	K562	blood:	n/a	chr7:103629541-103629551 chr7:103631143-103631152 chr7:103630523-103630533 chr7:103630065-103630075 chr7:103630505-103630515
9	MAX	chr7:103629719-103631171	K562	blood:	n/a	n/a
10	E2F6	chr7:103629597-103630862	H1-hESC	embryonic stem cell:	n/a	chr7:103630523-103630533 chr7:103630065-103630075 chr7:103630505-103630515
11	UBTF	chr7:103629662-103630104	K562	blood:	n/a	n/a
12	TAF1	chr7:103629880-103630187	HepG2	liver:	n/a	n/a
13	E2F6	chr7:103629527-103630837	H1-hESC	embryonic stem cell:	n/a	chr7:103629541-103629551 chr7:103630523-103630533 chr7:103630065-103630075 chr7:103630505-103630515
14	HCFC1	chr7:103629843-103630111	K562	blood:	n/a	n/a
15	TAF1	chr7:103629857-103630689	HepG2	liver:	n/a	n/a
16	HMGN3	chr7:103629045-103630719	K562	blood:	n/a	n/a
17	YY1	chr7:103629553-103630783	HepG2	liver:	n/a	chr7:103630067-103630076 chr7:103630064-103630073 chr7:103630022-103630033 chr7:103630585-103630599 chr7:103630064-103630075
18	EGR1	chr7:103629829-103630391	K562	blood:	n/a	chr7:103630264-103630273 chr7:103630283-103630293
19	YY1	chr7:103629538-103630892	K562	blood:	n/a	chr7:103629543-103629557 chr7:103630067-103630076 chr7:103630064-103630073 chr7:103629543-103629552 chr7:103630022-103630033 chr7:103630585-103630599 chr7:103630064-103630075
20	RFX5	chr7:103629926-103630030	HepG2	liver:	n/a	n/a
21	POLR2A	chr7:103628847-103631343	H1-neurons	neurons:	n/a	n/a
22	POLR2A	chr7:103629532-103631400	HepG2	liver:	n/a	n/a
23	POLR2A	chr7:103629918-103630150	HepG2	liver:	n/a	n/a
24	E2F4	chr7:103629132-103630855	K562	blood:	n/a	chr7:103629541-103629551 chr7:103630523-103630533 chr7:103630065-103630075 chr7:103630505-103630515
25	HDAC2	chr7:103629793-103630147	K562	blood:	n/a	n/a
26	MXI1	chr7:103629979-103630086	K562	blood:	n/a	n/a
27	MAX	chr7:103629581-103630214	H1-hESC	embryonic stem cell:	n/a	n/a
28	MAZ	chr7:103629340-103630989	K562	blood:	n/a	chr7:103629468-103629477
29	POLR2A	chr7:103629873-103630915	K562	blood:	n/a	n/a
30	MAX	chr7:103629588-103630857	H1-hESC	embryonic stem cell:	n/a	n/a
31	MAX	chr7:103629890-103631077	HepG2	liver:	n/a	n/a
32	CCNT2	chr7:103628934-103630862	K562	blood:	n/a	n/a
33	MYC	chr7:103629959-103630302	K562	blood:	n/a	n/a
34	POLR2A	chr7:103629797-103630159	HepG2	liver:	n/a	n/a
35	HEY1	chr7:103629831-103630650	K562	blood:	n/a	chr7:103630003-103630018 chr7:103630063-103630078 chr7:103630325-103630340 chr7:103630322-103630337
36	MAX	chr7:103629379-103631258	K562	blood:	n/a	chr7:103629468-103629477
37	EGR1	chr7:103629847-103630469	K562	blood:	n/a	chr7:103630264-103630273 chr7:103630283-103630293
38	MXI1	chr7:103629639-103631198	HepG2	liver:	n/a	n/a
39	POLR2A	chr7:103629829-103630167	K562	blood:	n/a	n/a
40	ZNF263	chr7:103629366-103630066	HEK293-T-REx	kidney:	n/a	chr7:103629875-103629896
41	POLR2A	chr7:103629008-103631428	HepG2	liver:	n/a	n/a
42	REST	chr7:103628791-103631624	H1-neurons	neurons:	n/a	chr7:103630508-103630521 chr7:103630245-103630258 chr7:103630112-103630125 chr7:103630332-103630342 chr7:103629549-103629569 chr7:103630283-103630296 chr7:103630349-103630356
43	POLR2A	chr7:103629862-103630163	HepG2	liver:	n/a	n/a
44	TBP	chr7:103629561-103631066	K562	blood:	n/a	n/a
45	RCOR1	chr7:103629254-103630021	K562	blood:	n/a	n/a
46	ZBTB7A	chr7:103629667-103630850	K562	blood:	n/a	chr7:103629949-103629957
47	POLR2A	chr7:103629760-103630983	K562	blood:	n/a	n/a
48	CHD2	chr7:103629930-103630104	K562	blood:	n/a	n/a
49	HEY1	chr7:103629796-103630594	HepG2	liver:	n/a	chr7:103630003-103630018 chr7:103630063-103630078 chr7:103630325-103630340 chr7:103630322-103630337
50	MAX	chr7:103629606-103630356	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:103628555..103630772-chr7:103847007..103849982,2	K562	blood:

Variant related genes	Relation type
RELN	TF binding region
ENSG00000164815	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

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	esv3424622	chr7:103628741-103631589	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	esv3328063	chr7:103628966-103631164	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:103628600-103630800	Active TSS	K562	blood
2	chr7:103628800-103631000	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr7:103629000-103630600	Bivalent/Poised TSS	Fetal Brain Female	brain
4	chr7:103629000-103630800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
5	chr7:103629000-103630800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
6	chr7:103629000-103631000	Active TSS	Brain Anterior Caudate	brain
7	chr7:103629000-103631000	Bivalent/Poised TSS	Fetal Stomach	stomach
8	chr7:103629000-103631000	Bivalent/Poised TSS	NHLF	lung
9	chr7:103629000-103631200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
10	chr7:103629000-103631200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
11	chr7:103629000-103631200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
12	chr7:103629000-103631400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
13	chr7:103629000-103631400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
14	chr7:103629200-103630800	Bivalent/Poised TSS	Osteobl	bone
15	chr7:103629200-103631000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr7:103629200-103631200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
17	chr7:103629200-103631200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr7:103629200-103631200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr7:103629200-103631200	Active TSS	Brain Substantia Nigra	brain
20	chr7:103629200-103631400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
21	chr7:103629400-103630200	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr7:103629400-103630400	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr7:103629400-103630400	Bivalent Enhancer	Placenta	Placenta
24	chr7:103629400-103630800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr7:103629400-103631000	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
26	chr7:103629400-103631000	Bivalent/Poised TSS	Colonic Mucosa	Colon
27	chr7:103629400-103631000	Bivalent/Poised TSS	Fetal Intestine Large	intestine
28	chr7:103629400-103631000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
29	chr7:103629400-103631000	Active TSS	Rectal Smooth Muscle	rectum
30	chr7:103629400-103631000	Bivalent/Poised TSS	HSMM	muscle
31	chr7:103629400-103631200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr7:103629400-103631200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr7:103629400-103632200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
34	chr7:103629600-103630400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr7:103629600-103630600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr7:103629600-103630600	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
37	chr7:103629600-103630600	Bivalent/Poised TSS	Thymus	Thymus
38	chr7:103629600-103630800	Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr7:103629600-103630800	Active TSS	Stomach Smooth Muscle	stomach
40	chr7:103629600-103630800	Active TSS	HepG2	liver
41	chr7:103629600-103631000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr7:103629600-103631000	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr7:103629600-103631000	Active TSS	Brain Angular Gyrus	brain
44	chr7:103629600-103631200	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr7:103629600-103631200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr7:103629600-103631200	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
47	chr7:103629600-103631400	Active TSS	Aorta	Aorta
48	chr7:103629600-103631400	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
49	chr7:103629600-103631400	Enhancers	Spleen	Spleen
50	chr7:103629800-103630200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived

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