Variant report

Variant	rs6715667
Chromosome Location	chr2:20642956-20642957
allele	C/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	RAD21	chr2:20642849-20643620	A549	lung:	n/a	chr2:20643152-20643171
2	SMC3	chr2:20642528-20643618	SK-N-SH	brain:	n/a	chr2:20643153-20643167
3	RAD21	chr2:20642926-20643552	A549	lung:	n/a	chr2:20643152-20643171
4	RAD21	chr2:20642536-20643589	HCT-116	colon:	n/a	chr2:20643152-20643171
5	NFIC	chr2:20642721-20643466	HepG2	liver:	n/a	n/a
6	RAD21	chr2:20642569-20643743	SK-N-SH	brain:	n/a	chr2:20643152-20643171
7	RAD21	chr2:20642902-20643540	HCT-116	colon:	n/a	chr2:20643152-20643171
8	ZNF384	chr2:20642860-20643362	K562	blood:	n/a	n/a
9	FOSL2	chr2:20642926-20643534	A549	lung:	n/a	n/a
10	RAD21	chr2:20642938-20643476	H1-hESC	embryonic stem cell:	n/a	chr2:20643152-20643171
11	CTCF	chr2:20642586-20644240	A549	lung:	n/a	chr2:20643151-20643169 chr2:20643153-20643174 chr2:20643152-20643168
12	ZNF384	chr2:20642770-20643361	GM12878	blood:	n/a	n/a
13	RAD21	chr2:20642919-20643443	ECC-1	luminal epithelium:	n/a	chr2:20643152-20643171
14	CTCF	chr2:20642732-20643701	SK-N-SH	brain:	n/a	chr2:20643151-20643169 chr2:20643153-20643174 chr2:20643152-20643168
15	CTCF	chr2:20642896-20643411	A549	lung:	n/a	chr2:20643151-20643169 chr2:20643153-20643174 chr2:20643152-20643168
16	CTCF	chr2:20642920-20643070	HAc	cerebellar:	n/a	n/a
17	TCF12	chr2:20642906-20643845	A549	lung:	n/a	chr2:20643232-20643239
18	RAD21	chr2:20642788-20643641	HepG2	liver:	n/a	chr2:20643152-20643171
19	EP300	chr2:20642923-20643749	A549	lung:	n/a	n/a
20	RFX5	chr2:20642773-20643183	K562	blood:	n/a	n/a
21	SIX5	chr2:20642514-20643608	A549	lung:	n/a	n/a
22	GATA3	chr2:20642932-20643756	A549	lung:	n/a	n/a
23	RAD21	chr2:20642917-20643487	ECC-1	luminal epithelium:	n/a	chr2:20643152-20643171
24	CTCF	chr2:20642897-20643434	HCT-116	colon:	n/a	chr2:20643151-20643169 chr2:20643153-20643174 chr2:20643152-20643168
25	EP300	chr2:20642937-20643603	A549	lung:	n/a	n/a
26	RAD21	chr2:20642924-20643434	H1-hESC	embryonic stem cell:	n/a	chr2:20643152-20643171
27	REST	chr2:20642951-20643601	A549	lung:	n/a	n/a
28	CTCF	chr2:20642722-20643535	HCT-116	colon:	n/a	chr2:20643151-20643169 chr2:20643153-20643174 chr2:20643152-20643168
29	RAD21	chr2:20642937-20643421	SK-N-SH_RA	brain:	n/a	chr2:20643152-20643171
30	CTCF	chr2:20642954-20643374	A549	lung:	n/a	chr2:20643151-20643169 chr2:20643153-20643174 chr2:20643152-20643168

No.	Distal block	Cell Line	Cell type
1	chr2:20633992..20655025-chr2:20829429..20854651,127	MCF-7	breast:
2	chr2:20640108..20658716-chr2:20812153..20855311,258	MCF-7	breast:
3	chr2:20642767..20643493-chr2:20835303..20836123,5	MCF-7	breast:
4	chr2:20642909..20643742-chr2:20842066..20842742,2	MCF-7	breast:
5	chr2:20642683..20643659-chr2:20850508..20851357,5	K562	blood:
6	chr2:20642320..20643251-chr2:20842865..20843400,2	MCF-7	breast:
7	chr2:20642752..20643605-chr2:20835184..20835902,3	MCF-7	breast:
8	chr2:20637684..20640674-chr2:20641308..20644150,4	MCF-7	breast:
9	chr2:20642729..20643659-chr2:20841940..20842826,3	K562	blood:
10	chr2:20642715..20643588-chr2:20834999..20836376,11	K562	blood:
11	chr2:20642724..20643586-chr2:20841568..20842737,5	MCF-7	breast:

Variant related genes	Relation type
RHOB	TF binding region
ENSG00000118960	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs1062292	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13024532	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv455830	chr2:20621404-20659862	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
2	nsv581166	chr2:20621404-20659862	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
3	nsv873717	chr2:20625174-20756900	Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
4	nsv873718	chr2:20627875-20752152	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
5	nsv873719	chr2:20628882-20756900	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
6	nsv833537	chr2:20630092-20826816	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6715667	AC023137.2	cis	Artery Tibial	GTEx

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20625000-20646000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:20629200-20643400	Weak transcription	Right Atrium	heart
3	chr2:20630600-20644800	Weak transcription	Lung	lung
4	chr2:20632600-20644800	Weak transcription	Aorta	Aorta
5	chr2:20638400-20644400	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr2:20638400-20644600	Weak transcription	Brain Angular Gyrus	brain
7	chr2:20638400-20644600	Weak transcription	Psoas Muscle	Psoas
8	chr2:20638600-20643200	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr2:20639000-20643400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr2:20639000-20643400	Weak transcription	Ovary	ovary
11	chr2:20639200-20643400	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr2:20639200-20643400	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr2:20639400-20643200	Weak transcription	NHDF-Ad	bronchial
14	chr2:20639400-20643400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr2:20639400-20643400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr2:20639400-20643400	Weak transcription	Osteobl	bone
17	chr2:20639400-20643600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:20639400-20643600	Weak transcription	NH-A	brain
19	chr2:20639400-20646000	Weak transcription	HSMMtube	muscle
20	chr2:20639600-20643200	Weak transcription	HSMM	muscle
21	chr2:20639600-20643200	Weak transcription	HUVEC	blood vessel
22	chr2:20639600-20643200	Weak transcription	NHLF	lung
23	chr2:20639600-20643400	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr2:20639600-20643400	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr2:20639600-20643400	Weak transcription	Stomach Smooth Muscle	stomach
26	chr2:20639600-20644400	Weak transcription	Left Ventricle	heart
27	chr2:20639600-20644400	Weak transcription	Pancreas	Pancrea
28	chr2:20639600-20644800	Weak transcription	Colonic Mucosa	Colon
29	chr2:20639600-20646000	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr2:20639600-20646000	Weak transcription	Gastric	stomach
31	chr2:20639600-20646200	Weak transcription	HMEC	breast
32	chr2:20639800-20643200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr2:20639800-20643200	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr2:20639800-20643400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr2:20640400-20643200	Weak transcription	Adipose Nuclei	Adipose
36	chr2:20640400-20643200	Weak transcription	HepG2	liver
37	chr2:20640600-20643600	Weak transcription	Brain Cingulate Gyrus	brain
38	chr2:20640600-20643600	Weak transcription	Brain Substantia Nigra	brain
39	chr2:20640800-20643600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr2:20641600-20645000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr2:20641800-20643000	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr2:20641800-20643200	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr2:20641800-20643400	Weak transcription	Fetal Muscle Leg	muscle
44	chr2:20642000-20643000	Active TSS	Placenta	Placenta
45	chr2:20642000-20643200	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr2:20642000-20643600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr2:20642000-20644400	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr2:20642000-20646200	Weak transcription	K562	blood
49	chr2:20642200-20643400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr2:20642200-20644600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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