Variant report

Variant	rs200871958
Chromosome Location	chr6:147830280-147830281
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	CTCF	chr6:147830144-147830472	K562	blood:	n/a	n/a
2	CTCF	chr6:147830220-147830414	HepG2	liver:	n/a	n/a
3	CTCF	chr6:147830240-147830390	WERI-Rb-1	eye:	n/a	n/a
4	CTCF	chr6:147830280-147830430	GM12867	blood:	n/a	n/a
5	CTCF	chr6:147830280-147830430	Caco-2	colon:	n/a	n/a
6	CTCF	chr6:147830280-147830430	GM12869	blood:	n/a	n/a
7	TCF7L2	chr6:147829563-147830485	HCT-116	colon:	n/a	n/a
8	CTCF	chr6:147830180-147830439	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTBP2	chr6:147829088-147830660	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr6:147830264-147830418	ProgFib	skin:	n/a	n/a
11	CTCF	chr6:147830210-147830521	GM19239	blood:	n/a	n/a
12	CTCF	chr6:147830220-147830370	NHEK	skin:	n/a	n/a
13	CTCF	chr6:147830192-147830508	IMR90	lung:	n/a	n/a
14	CTCF	chr6:147830240-147830390	HBMEC	blood vessel:	n/a	n/a
15	KAP1	chr6:147829423-147831405	HEK293	kidney:	n/a	n/a
16	CTCF	chr6:147830220-147830370	GM12874	blood:	n/a	n/a
17	POLR2A	chr6:147828306-147830686	H1-neurons	neurons:	n/a	n/a
18	POLR2A	chr6:147828918-147830345	H1-neurons	neurons:	n/a	n/a
19	CTCF	chr6:147830233-147830460	Gliobla	brain:	n/a	n/a
20	RAD21	chr6:147830252-147830547	IMR90	lung:	n/a	n/a
21	RAD21	chr6:147830169-147830471	K562	blood:	n/a	n/a
22	UBTF	chr6:147829047-147830340	K562	blood:	n/a	n/a
23	CTCF	chr6:147830240-147830390	RPTEC	kidney:	n/a	n/a
24	CTCF	chr6:147830220-147830370	GM12871	blood:	n/a	n/a
25	GATA2	chr6:147830143-147831315	HUVEC	blood vessel:	n/a	chr6:147831238-147831245 chr6:147830737-147830753 chr6:147830929-147830939 chr6:147830736-147830750 chr6:147831238-147831245 chr6:147831238-147831245 chr6:147830734-147830755
26	CTCF	chr6:147830260-147830410	HRPEpiC	eye:	n/a	n/a
27	SUZ12	chr6:147827959-147831279	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr6:147830143-147830623	K562	blood:	n/a	n/a
29	CTCF	chr6:147830260-147830410	HCPEpiC	choroid plexus:	n/a	n/a
30	CTCF	chr6:147830260-147830410	GM12868	blood:	n/a	n/a
31	ZBTB7A	chr6:147830191-147830513	K562	blood:	n/a	n/a
32	CTCF	chr6:147830280-147830430	HMEC	breast:	n/a	n/a
33	CTCF	chr6:147830220-147830370	AG09309	skin:	n/a	n/a
34	CTCF	chr6:147830277-147830304	Kidney_OC	kidney:	n/a	n/a
35	HMGN3	chr6:147830093-147830643	K562	blood:	n/a	n/a
36	REST	chr6:147828307-147830557	H1-neurons	neurons:	n/a	chr6:147829102-147829115 chr6:147829031-147829044 chr6:147830032-147830040
37	CTCF	chr6:147830260-147830410	GM12866	blood:	n/a	n/a
38	CTCF	chr6:147830280-147830430	NHLF	lung:	n/a	n/a
39	POLR2A	chr6:147829401-147831506	GM18951	blood:	n/a	n/a
40	CTCF	chr6:147830240-147830512	GM19238	blood:	n/a	n/a
41	CTCF	chr6:147830220-147830370	AG09319	gingival:	n/a	n/a
42	ZNF263	chr6:147827811-147831448	HEK293-T-REx	kidney:	n/a	n/a
43	CTCF	chr6:147830260-147830410	NHDF-neo	bronchial:	n/a	n/a

Variant related genes	Relation type
SAMD5	TF binding region

Extended variants
information (count: 1 )
Associated
traits (count: 0)

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3336787	chr6:147829109-147831307	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:147827800-147830800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
2	chr6:147827800-147831800	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr6:147827800-147834000	Active TSS	Breast Myoepithelial Primary Cells	Breast
4	chr6:147828000-147830400	Active TSS	A549	lung
5	chr6:147828000-147830800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
6	chr6:147828000-147831000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
7	chr6:147828000-147831200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
8	chr6:147828000-147831200	Active TSS	Aorta	Aorta
9	chr6:147828200-147830600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
10	chr6:147828400-147830400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr6:147828400-147830400	Active TSS	Gastric	stomach
12	chr6:147828400-147831200	Active TSS	Right Atrium	heart
13	chr6:147828400-147832400	Active TSS	Fetal Kidney	kidney
14	chr6:147828600-147830400	Active TSS	NHDF-Ad	bronchial
15	chr6:147828600-147830600	Active TSS	Fetal Lung	lung
16	chr6:147828600-147830800	Active TSS	Brain Angular Gyrus	brain
17	chr6:147828600-147831000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
18	chr6:147828600-147831600	Active TSS	HSMM	muscle
19	chr6:147828600-147832000	Active TSS	Fetal Intestine Large	intestine
20	chr6:147828600-147832000	Active TSS	Rectal Mucosa Donor 31	rectum
21	chr6:147828600-147832200	Active TSS	HSMMtube	muscle
22	chr6:147828800-147830400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr6:147828800-147830400	Bivalent/Poised TSS	Fetal Stomach	stomach
24	chr6:147828800-147830400	Active TSS	Ovary	ovary
25	chr6:147828800-147830400	Bivalent/Poised TSS	Thymus	Thymus
26	chr6:147828800-147830400	Active TSS	HUVEC	blood vessel
27	chr6:147828800-147830400	Active TSS	NH-A	brain
28	chr6:147828800-147830600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr6:147828800-147830600	Active TSS	Brain Substantia Nigra	brain
30	chr6:147828800-147830600	Active TSS	Rectal Mucosa Donor 29	rectum
31	chr6:147828800-147830600	Active TSS	NHLF	lung
32	chr6:147828800-147830800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
33	chr6:147828800-147830800	Active TSS	Esophagus	oesophagus
34	chr6:147828800-147830800	Active TSS	Left Ventricle	heart
35	chr6:147828800-147830800	Bivalent/Poised TSS	Osteobl	bone
36	chr6:147828800-147831000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr6:147828800-147831000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
38	chr6:147828800-147831000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr6:147828800-147831200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
40	chr6:147828800-147831200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
41	chr6:147828800-147831400	Active TSS	Duodenum Mucosa	Duodenum
42	chr6:147828800-147831400	Active TSS	Rectal Smooth Muscle	rectum
43	chr6:147828800-147831600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
44	chr6:147828800-147831600	Active TSS	Lung	lung
45	chr6:147828800-147831800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
46	chr6:147828800-147832200	Active TSS	Muscle Satellite Cultured Cells	--
47	chr6:147828800-147832200	Active TSS	Brain Inferior Temporal Lobe	brain
48	chr6:147828800-147832400	Active TSS	Fetal Intestine Small	intestine
49	chr6:147828800-147832600	Active TSS	Brain Anterior Caudate	brain
50	chr6:147829000-147830400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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