Variant report

Variant	rs1858815
Chromosome Location	chr7:103630691-103630692
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	POLR2A	chr7:103629877-103631266	HepG2	liver:	n/a	n/a
2	MYC	chr7:103629672-103630857	K562	blood:	n/a	n/a
3	MAX	chr7:103629554-103631348	HepG2	liver:	n/a	n/a
4	CTCF	chr7:103630560-103630710	HBMEC	blood vessel:	n/a	n/a
5	CTCF	chr7:103630554-103630722	H1-hESC	embryonic stem cell:	n/a	n/a
6	E2F6	chr7:103629052-103631196	K562	blood:	n/a	chr7:103629541-103629551 chr7:103631143-103631152 chr7:103630523-103630533 chr7:103630065-103630075 chr7:103630505-103630515
7	CTCF	chr7:103630303-103630874	K562	blood:	n/a	chr7:103630402-103630415
8	TAF1	chr7:103630198-103630744	K562	blood:	n/a	n/a
9	MAX	chr7:103629719-103631171	K562	blood:	n/a	n/a
10	CTCF	chr7:103630545-103630760	HepG2	liver:	n/a	n/a
11	E2F6	chr7:103629597-103630862	H1-hESC	embryonic stem cell:	n/a	chr7:103630523-103630533 chr7:103630065-103630075 chr7:103630505-103630515
12	RAD21	chr7:103630179-103630801	K562	blood:	n/a	chr7:103630403-103630416
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	GATA2	chr7:103630519-103631787	SH-SY5Y	brain:	n/a	chr7:103630947-103630957
15	CTCF	chr7:103630540-103630738	Gliobla	brain:	n/a	n/a
16	CTCF	chr7:103630580-103630730	AG04449	skin:	n/a	n/a
17	POLR2A	chr7:103630194-103630942	PFSK-1	brain:	n/a	n/a
18	RAD21	chr7:103630365-103631167	H1-hESC	embryonic stem cell:	n/a	chr7:103630403-103630416
19	BACH1	chr7:103630403-103630841	H1-hESC	embryonic stem cell:	n/a	n/a
20	ZMIZ1	chr7:103630497-103630706	K562	blood:	n/a	n/a
21	HMGN3	chr7:103629045-103630719	K562	blood:	n/a	n/a
22	YY1	chr7:103629553-103630783	HepG2	liver:	n/a	chr7:103630067-103630076 chr7:103630064-103630073 chr7:103630022-103630033 chr7:103630585-103630599 chr7:103630064-103630075
23	CTCF	chr7:103630580-103630730	AG04450	lung:	n/a	n/a
24	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
25	POLR2A	chr7:103628847-103631343	H1-neurons	neurons:	n/a	n/a
26	POLR2A	chr7:103629532-103631400	HepG2	liver:	n/a	n/a
27	CTCF	chr7:103630640-103630790	GM12866	blood:	n/a	n/a
28	E2F4	chr7:103629132-103630855	K562	blood:	n/a	chr7:103629541-103629551 chr7:103630523-103630533 chr7:103630065-103630075 chr7:103630505-103630515
29	CTCF	chr7:103630600-103630750	WI-38	lung:	n/a	n/a
30	RAD21	chr7:103630488-103630915	SK-N-SH_RA	brain:	n/a	n/a
31	RCOR1	chr7:103630267-103631118	K562	blood:	n/a	n/a
32	CTCF	chr7:103630600-103630750	AG09319	gingival:	n/a	n/a
33	HEY1	chr7:103630689-103631262	HepG2	liver:	n/a	n/a
34	MAX	chr7:103630216-103630729	H1-hESC	embryonic stem cell:	n/a	n/a
35	MAZ	chr7:103629340-103630989	K562	blood:	n/a	chr7:103629468-103629477
36	POLR2A	chr7:103629873-103630915	K562	blood:	n/a	n/a
37	ZNF384	chr7:103630573-103630723	K562	blood:	n/a	n/a
38	CTCF	chr7:103630560-103630710	HUVEC	blood vessel:	n/a	n/a
39	MAX	chr7:103629588-103630857	H1-hESC	embryonic stem cell:	n/a	n/a
40	MAX	chr7:103629890-103631077	HepG2	liver:	n/a	n/a
41	TAF1	chr7:103630201-103630704	HepG2	liver:	n/a	n/a
42	HCFC1	chr7:103630359-103630757	K562	blood:	n/a	n/a
43	CCNT2	chr7:103628934-103630862	K562	blood:	n/a	n/a
44	CTCF	chr7:103630640-103630790	GM06990	blood:	n/a	n/a
45	MYC	chr7:103630512-103630955	HepG2	liver:	n/a	n/a
46	CTCF	chr7:103630544-103630713	MCF-7	breast:	n/a	n/a
47	CTCF	chr7:103630386-103630849	K562	blood:	n/a	chr7:103630402-103630415
48	ZBTB7A	chr7:103630149-103630866	K562	blood:	n/a	n/a
49	UBTF	chr7:103630344-103630846	K562	blood:	n/a	n/a
50	CTCF	chr7:103630531-103630752	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:103630552..103631385-chr7:103736876..103737824,2	K562	blood:
2	chr7:103630477..103632147-chr7:103644604..103646445,2	K562	blood:
3	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: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs6951875	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6952315	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6966089	0.84[EUR][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	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:106 , 50 per page) page: 1 2 3

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	chr7:103629000-103630800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
4	chr7:103629000-103630800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
5	chr7:103629000-103631000	Active TSS	Brain Anterior Caudate	brain
6	chr7:103629000-103631000	Bivalent/Poised TSS	Fetal Stomach	stomach
7	chr7:103629000-103631000	Bivalent/Poised TSS	NHLF	lung
8	chr7:103629000-103631200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
9	chr7:103629000-103631200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
10	chr7:103629000-103631200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
11	chr7:103629000-103631400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
12	chr7:103629000-103631400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
13	chr7:103629200-103630800	Bivalent/Poised TSS	Osteobl	bone
14	chr7:103629200-103631000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr7:103629200-103631200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
16	chr7:103629200-103631200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr7:103629200-103631200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr7:103629200-103631200	Active TSS	Brain Substantia Nigra	brain
19	chr7:103629200-103631400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
20	chr7:103629400-103630800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:103629400-103631000	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
22	chr7:103629400-103631000	Bivalent/Poised TSS	Colonic Mucosa	Colon
23	chr7:103629400-103631000	Bivalent/Poised TSS	Fetal Intestine Large	intestine
24	chr7:103629400-103631000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
25	chr7:103629400-103631000	Active TSS	Rectal Smooth Muscle	rectum
26	chr7:103629400-103631000	Bivalent/Poised TSS	HSMM	muscle
27	chr7:103629400-103631200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr7:103629400-103631200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr7:103629400-103632200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
30	chr7:103629600-103630800	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr7:103629600-103630800	Active TSS	Stomach Smooth Muscle	stomach
32	chr7:103629600-103630800	Active TSS	HepG2	liver
33	chr7:103629600-103631000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr7:103629600-103631000	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr7:103629600-103631000	Active TSS	Brain Angular Gyrus	brain
36	chr7:103629600-103631200	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr7:103629600-103631200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr7:103629600-103631200	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
39	chr7:103629600-103631400	Active TSS	Aorta	Aorta
40	chr7:103629600-103631400	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
41	chr7:103629600-103631400	Enhancers	Spleen	Spleen
42	chr7:103629800-103630800	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr7:103629800-103630800	Active TSS	Breast Myoepithelial Primary Cells	Breast
44	chr7:103629800-103630800	Active TSS	Primary hematopoietic stem cells	blood
45	chr7:103629800-103630800	Active TSS	Liver	Liver
46	chr7:103629800-103630800	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
47	chr7:103629800-103630800	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
48	chr7:103629800-103630800	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
49	chr7:103629800-103630800	Bivalent/Poised TSS	A549	lung
50	chr7:103629800-103630800	Active TSS	NH-A	brain

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