Variant report

Variant	rs62065210
Chromosome Location	chr17:38183557-38183558
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	RAD21	chr17:38183223-38183627	H1-hESC	embryonic stem cell:	n/a	chr17:38183439-38183458 chr17:38183448-38183457 chr17:38183442-38183455
2	CTCF	chr17:38183306-38183603	LNCaP	prostate:	n/a	chr17:38183442-38183458 chr17:38183448-38183455 chr17:38183443-38183456 chr17:38183436-38183457 chr17:38183441-38183459
3	CTCF	chr17:38183251-38183667	K562	blood:	n/a	chr17:38183442-38183458 chr17:38183448-38183455 chr17:38183443-38183456 chr17:38183436-38183457 chr17:38183441-38183459
4	MYC	chr17:38183350-38183636	K562	blood:	n/a	n/a
5	ZMIZ1	chr17:38183340-38183577	K562	blood:	n/a	n/a
6	RAD21	chr17:38183208-38183655	ECC-1	luminal epithelium:	n/a	chr17:38183439-38183458 chr17:38183448-38183457 chr17:38183442-38183455
7	CTCF	chr17:38183321-38183601	GM13977	blood:	n/a	chr17:38183442-38183458 chr17:38183448-38183455 chr17:38183443-38183456 chr17:38183436-38183457 chr17:38183441-38183459
8	RAD21	chr17:38183156-38183695	HepG2	liver:	n/a	chr17:38183439-38183458 chr17:38183448-38183457 chr17:38183442-38183455
9	GABPA	chr17:38183232-38183616	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr17:38183300-38183623	NHEK	skin:	n/a	chr17:38183442-38183458 chr17:38183448-38183455 chr17:38183443-38183456 chr17:38183436-38183457 chr17:38183441-38183459
11	CTCF	chr17:38183321-38183592	H1-hESC	embryonic stem cell:	n/a	chr17:38183442-38183458 chr17:38183448-38183455 chr17:38183443-38183456 chr17:38183436-38183457 chr17:38183441-38183459
12	ARID3A	chr17:38183370-38183570	HepG2	liver:	n/a	n/a
13	CTCF	chr17:38183350-38183567	GM20000	blood:	n/a	chr17:38183442-38183458 chr17:38183448-38183455 chr17:38183443-38183456 chr17:38183436-38183457 chr17:38183441-38183459
14	E2F4	chr17:38182725-38183575	MCF10A-Er-Src	breast:	n/a	n/a
15	MAX	chr17:38183201-38183638	MCF-7	breast:	n/a	n/a
16	CTCF	chr17:38183200-38183671	GM12878	blood:	n/a	chr17:38183442-38183458 chr17:38183448-38183455 chr17:38183443-38183456 chr17:38183436-38183457 chr17:38183441-38183459
17	RCOR1	chr17:38183319-38183611	K562	blood:	n/a	n/a
18	CTCF	chr17:38183309-38183595	MCF-7	breast:	n/a	chr17:38183442-38183458 chr17:38183448-38183455 chr17:38183443-38183456 chr17:38183436-38183457 chr17:38183441-38183459
19	CTCF	chr17:38183330-38183584	HUVEC	blood vessel:	n/a	chr17:38183442-38183458 chr17:38183448-38183455 chr17:38183443-38183456 chr17:38183436-38183457 chr17:38183441-38183459
20	MAX	chr17:38183107-38183831	K562	blood:	n/a	n/a
21	CTCF	chr17:38183440-38183590	A549	lung:	n/a	chr17:38183442-38183458 chr17:38183448-38183455 chr17:38183443-38183456 chr17:38183441-38183459
22	CTCF	chr17:38182826-38184090	SK-N-SH	brain:	n/a	chr17:38183442-38183458 chr17:38183907-38183925 chr17:38183448-38183455 chr17:38183443-38183456 chr17:38183436-38183457 chr17:38183441-38183459 chr17:38183902-38183923
23	SP1	chr17:38183311-38183568	GM12878	blood:	n/a	n/a
24	ZNF143	chr17:38183374-38183573	Hela-S3	cervix:	n/a	chr17:38183554-38183564
25	RFX5	chr17:38183319-38183589	Hela-S3	cervix:	n/a	n/a
26	CTCF	chr17:38183341-38183580	GM13976	blood:	n/a	chr17:38183442-38183458 chr17:38183448-38183455 chr17:38183443-38183456 chr17:38183436-38183457 chr17:38183441-38183459
27	CTCF	chr17:38183319-38183594	Medullo	brain:	n/a	chr17:38183442-38183458 chr17:38183448-38183455 chr17:38183443-38183456 chr17:38183436-38183457 chr17:38183441-38183459
28	POLR2A	chr17:38183161-38183663	Hela-S3	cervix:	n/a	n/a
29	CTCF	chr17:38183281-38183623	GM19238	blood:	n/a	chr17:38183442-38183458 chr17:38183448-38183455 chr17:38183443-38183456 chr17:38183436-38183457 chr17:38183441-38183459
30	CTCF	chr17:38183321-38183600	Pancreas_OC	pancreas:	n/a	chr17:38183442-38183458 chr17:38183448-38183455 chr17:38183443-38183456 chr17:38183436-38183457 chr17:38183441-38183459
31	CTCF	chr17:38183290-38183594	Lung_OC	lung:	n/a	chr17:38183442-38183458 chr17:38183448-38183455 chr17:38183443-38183456 chr17:38183436-38183457 chr17:38183441-38183459
32	CTCF	chr17:38183313-38183562	ECC-1	luminal epithelium:	n/a	chr17:38183442-38183458 chr17:38183448-38183455 chr17:38183443-38183456 chr17:38183436-38183457 chr17:38183441-38183459
33	POLR2A	chr17:38183507-38183629	HepG2	liver:	n/a	n/a
34	CTCF	chr17:38183323-38183587	Hela-S3	cervix:	n/a	chr17:38183442-38183458 chr17:38183448-38183455 chr17:38183443-38183456 chr17:38183436-38183457 chr17:38183441-38183459
35	CTCF	chr17:38183245-38183718	IMR90	lung:	n/a	chr17:38183442-38183458 chr17:38183448-38183455 chr17:38183443-38183456 chr17:38183436-38183457 chr17:38183441-38183459
36	RAD21	chr17:38183269-38183626	H1-hESC	embryonic stem cell:	n/a	chr17:38183439-38183458 chr17:38183448-38183457 chr17:38183442-38183455
37	SMC3	chr17:38183259-38183628	GM12878	blood:	n/a	chr17:38183443-38183457
38	POLR2A	chr17:38183124-38183623	K562	blood:	n/a	n/a
39	SIN3A	chr17:38183307-38183659	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTCF	chr17:38183246-38183597	T-47D	breast:	n/a	chr17:38183442-38183458 chr17:38183448-38183455 chr17:38183443-38183456 chr17:38183436-38183457 chr17:38183441-38183459
41	CTCF	chr17:38183298-38183611	GM19239	blood:	n/a	chr17:38183442-38183458 chr17:38183448-38183455 chr17:38183443-38183456 chr17:38183436-38183457 chr17:38183441-38183459
42	POLR2A	chr17:38183253-38183626	K562	blood:	n/a	n/a
43	RAD21	chr17:38183117-38183730	H1-hESC	embryonic stem cell:	n/a	chr17:38183439-38183458 chr17:38183448-38183457 chr17:38183442-38183455
44	CTCF	chr17:38183329-38183567	Kidney_OC	kidney:	n/a	chr17:38183442-38183458 chr17:38183448-38183455 chr17:38183443-38183456 chr17:38183436-38183457 chr17:38183441-38183459
45	CTCF	chr17:38183316-38183588	MCF-7	breast:	n/a	chr17:38183442-38183458 chr17:38183448-38183455 chr17:38183443-38183456 chr17:38183436-38183457 chr17:38183441-38183459
46	ZNF263	chr17:38183232-38184322	HEK293-T-REx	kidney:	n/a	chr17:38183592-38183601 chr17:38184085-38184094 chr17:38184086-38184107
47	CTCF	chr17:38182999-38184400	A549	lung:	n/a	chr17:38183442-38183458 chr17:38183907-38183925 chr17:38183448-38183455 chr17:38183443-38183456 chr17:38183436-38183457 chr17:38183441-38183459 chr17:38183902-38183923
48	MAZ	chr17:38183275-38183617	K562	blood:	n/a	n/a
49	RAD21	chr17:38183083-38183700	SK-N-SH	brain:	n/a	chr17:38183439-38183458 chr17:38183448-38183457 chr17:38183442-38183455
50	CTCF	chr17:38183338-38183572	MCF-7	breast:	n/a	chr17:38183442-38183458 chr17:38183448-38183455 chr17:38183443-38183456 chr17:38183436-38183457 chr17:38183441-38183459

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:38183553-38183603	HepG2	liver:	n/a
2	chr17:38183553-38183603	HCM	heart:	n/a
3	chr17:38183553-38183603	NH-A	brain:	n/a
4	chr17:38183553-38183603	RPTEC	kidney:	n/a
5	chr17:38183553-38183603	GM12892	blood:	n/a
6	chr17:38183553-38183603	HIPEpiC	eye:	n/a
7	chr17:38183553-38183603	HMEC	breast:	n/a
8	chr17:38183553-38183603	HEEpiC	esophagus:	n/a
9	chr17:38183553-38183603	HRE	kidney:	n/a
10	chr17:38183553-38183603	HCPEpiC	choroid plexus:	n/a
11	chr17:38183553-38183603	T-47D	breast:	n/a
12	chr17:38183553-38183603	K562	blood:	n/a
13	chr17:38183553-38183603	HEK293	kidney:	embryo
14	chr17:38183553-38183603	HUVEC	blood vessel:	n/a
15	chr17:38183553-38183603	PrEC	prostate:	n/a
16	chr17:38183553-38183603	AG04450	lung:	fetal
17	chr17:38183553-38183603	GM06990	blood:	n/a
18	chr17:38183553-38183603	LNCaP	prostate:	n/a
19	chr17:38183553-38183603	SK-N-MC	brain:	n/a
20	chr17:38183553-38183603	HRCEpiC	kidney:	n/a
21	chr17:38183553-38183603	Caco-2	colon:	n/a
22	chr17:38183553-38183603	PFSK-1	brain:	n/a
23	chr17:38183553-38183603	HL-60	blood:	n/a
24	chr17:38183553-38183603	AG10803	skin:	n/a
25	chr17:38183553-38183603	SK-N-SH_RA	brain:	n/a
26	chr17:38183553-38183603	HCT-116	colon:	n/a
27	chr17:38183553-38183603	Hepatocyte	liver:	n/a
28	chr17:38183553-38183603	BE2_C	brain:	n/a
29	chr17:38183553-38183603	H1-hESC	embryonic stem cell:	embryo
30	chr17:38183553-38183603	NT2-D1	testis:	n/a
31	chr17:38183553-38183603	HRPEpiC	eye:	n/a
32	chr17:38183553-38183603	MCF10A-Er-Src	breast:	n/a
33	chr17:38183553-38183603	HPAEpiC	pulmonary alveolar:	n/a
34	chr17:38183553-38183603	GM19239	blood:	n/a
35	chr17:38183553-38183603	NB4	blood:	n/a
36	chr17:38183553-38183603	U87	brain:	n/a
37	chr17:38183553-38183603	AoSMC	blood vessel:	n/a
38	chr17:38183553-38183603	Jurkat	blood:	n/a
39	chr17:38183553-38183603	MCF-7	breast:	n/a
40	chr17:38183553-38183603	BJ	skin:	n/a
41	chr17:38183553-38183603	NHDF-neo	bronchial:	n/a
42	chr17:38183553-38183603	IMR90	lung:	fetal
43	chr17:38183553-38183603	PANC-1	pancreas:	n/a
44	chr17:38183553-38183603	HAEpiC	amniotic membrane:	n/a
45	chr17:38183553-38183603	ECC-1	luminal epithelium:	n/a
46	chr17:38183553-38183603	AG09319	gingival:	n/a
47	chr17:38183553-38183603	ProgFib	skin:	n/a
48	chr17:38183553-38183603	AG09309	skin:	n/a
49	chr17:38183553-38183603	AG04449	skin:	fetal
50	chr17:38183553-38183603	HNPCEpiC	eye:	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:38170232..38173097-chr17:38181812..38184113,4	MCF-7	breast:
2	chr17:38170609..38173071-chr17:38181273..38184131,2	MCF-7	breast:
3	chr17:38178740..38181888-chr17:38181920..38184770,3	K562	blood:
4	chr17:38177803..38180808-chr17:38181920..38184987,3	K562	blood:
5	chr17:38181641..38185122-chr17:38333882..38336606,4	MCF-7	breast:
6	chr17:38175295..38180645-chr17:38181007..38185256,8	MCF-7	breast:

Variant related genes	Relation type
MED24	TF binding region
MED24	CpG island
ENSG00000265799	Chromatin interaction
ENSG00000108342	Chromatin interaction
ENSG00000108352	Chromatin interaction
ENSG00000008838	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs13341681	1.00[AMR][1000 genomes]
rs13380812	1.00[AMR][1000 genomes]
rs28407584	1.00[AMR][1000 genomes]
rs28409251	1.00[AMR][1000 genomes]
rs28464000	1.00[AMR][1000 genomes]
rs28494476	1.00[AMR][1000 genomes]
rs28505218	1.00[AMR][1000 genomes]
rs28627663	1.00[AMR][1000 genomes]
rs28661251	1.00[AMR][1000 genomes]
rs28673180	1.00[AMR][1000 genomes]
rs28882824	1.00[AMR][1000 genomes]
rs62065168	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62065170	1.00[EUR][1000 genomes]
rs9890819	1.00[AMR][1000 genomes]
rs9896961	1.00[AMR][1000 genomes]
rs9897847	1.00[AMR][1000 genomes]
rs9900885	1.00[AMR][1000 genomes]
rs9911163	1.00[AMR][1000 genomes]
rs9913746	1.00[AMR][1000 genomes]
rs9916301	1.00[AMR][1000 genomes]

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	nsv492308	chr17:38033039-38204458	Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38171400-38186000	Weak transcription	Small Intestine	intestine
2	chr17:38173400-38183800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr17:38173400-38192800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr17:38174000-38192600	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr17:38174000-38193800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr17:38174200-38187400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr17:38174400-38193200	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr17:38174800-38192600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr17:38175000-38193800	Strong transcription	HepG2	liver
10	chr17:38175200-38192600	Strong transcription	Fetal Brain Female	brain
11	chr17:38175200-38193200	Strong transcription	Dnd41	blood
12	chr17:38175400-38188200	Weak transcription	Fetal Heart	heart
13	chr17:38175600-38191400	Strong transcription	Brain Hippocampus Middle	brain
14	chr17:38175600-38193200	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr17:38175600-38193200	Strong transcription	Brain Cingulate Gyrus	brain
16	chr17:38175600-38193800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr17:38175800-38192600	Strong transcription	Brain Germinal Matrix	brain
18	chr17:38176000-38189800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chr17:38176000-38192600	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr17:38176000-38195400	Weak transcription	Right Atrium	heart
21	chr17:38176200-38193800	Strong transcription	Cortex derived primary cultured neurospheres	brain
22	chr17:38176400-38192400	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr17:38177400-38184000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr17:38177800-38185400	Strong transcription	GM12878-XiMat	blood
25	chr17:38177800-38191000	Strong transcription	H1 Cell Line	embryonic stem cell
26	chr17:38178000-38187800	Strong transcription	Right Ventricle	heart
27	chr17:38178200-38192600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr17:38178600-38191200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr17:38178800-38184600	Weak transcription	HSMMtube	muscle
30	chr17:38179000-38184000	Genic enhancers	Muscle Satellite Cultured Cells	--
31	chr17:38179000-38192600	Strong transcription	Primary neutrophils fromperipheralblood	blood
32	chr17:38180400-38183800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr17:38180400-38191200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr17:38180400-38192600	Strong transcription	Fetal Intestine Large	intestine
35	chr17:38180400-38193800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr17:38181000-38184000	Enhancers	HMEC	breast
37	chr17:38181000-38192600	Strong transcription	Primary hematopoietic stem cells	blood
38	chr17:38181200-38183600	Genic enhancers	Lung	lung
39	chr17:38181400-38184000	Genic enhancers	Primary T cells fromperipheralblood	blood
40	chr17:38181400-38192600	Strong transcription	Fetal Lung	lung
41	chr17:38181400-38193200	Strong transcription	Brain Substantia Nigra	brain
42	chr17:38181400-38193400	Strong transcription	Brain Anterior Caudate	brain
43	chr17:38181600-38183800	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr17:38181600-38183800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
45	chr17:38181600-38183800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr17:38181600-38183800	Genic enhancers	Fetal Thymus	thymus
47	chr17:38181800-38183600	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr17:38181800-38183800	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
49	chr17:38181800-38183800	Genic enhancers	Skeletal Muscle Male	skeletal muscle
50	chr17:38181800-38192600	Strong transcription	Osteobl	bone

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