Variant report

Variant	rs45490693
Chromosome Location	chr6:35436078-35436079
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:710)
CpG islands
(count:61)
Chromatin interactive
region (count:43)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:710 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr6:35435903-35436227	Gliobla	brain:	n/a	chr6:35436045-35436061 chr6:35435948-35435961 chr6:35436044-35436062
2	CTCF	chr6:35435980-35436130	HBMEC	blood vessel:	n/a	chr6:35436045-35436061 chr6:35436044-35436062
3	MXI1	chr6:35435609-35437073	HepG2	liver:	n/a	n/a
4	MXI1	chr6:35435572-35437977	IMR90	lung:	n/a	n/a
5	RFX5	chr6:35435573-35436381	HepG2	liver:	n/a	n/a
6	POLR2A	chr6:35435014-35442921	PFSK-1	brain:	n/a	n/a
7	CTCF	chr6:35436000-35436150	AG10803	skin:	n/a	chr6:35436045-35436061 chr6:35436044-35436062
8	MYC	chr6:35435703-35437051	Hela-S3	cervix:	n/a	n/a
9	MEF2A	chr6:35435789-35436368	GM12878	blood:	n/a	n/a
10	MAX	chr6:35435623-35436736	MCF-7	breast:	n/a	n/a
11	TAF1	chr6:35435662-35436836	MCF-7	breast:	n/a	n/a
12	SIN3AK20	chr6:35435943-35436664	HepG2	liver:	n/a	n/a
13	CTCF	chr6:35435784-35436299	HepG2	liver:	n/a	chr6:35436045-35436061 chr6:35435948-35435961 chr6:35436044-35436062
14	YY1	chr6:35435833-35436505	SK-N-SH_RA	brain:	n/a	chr6:35436049-35436060
15	TCF12	chr6:35435772-35436427	GM12878	blood:	n/a	n/a
16	ELF1	chr6:35435827-35436683	K562	blood:	n/a	n/a
17	TCF3	chr6:35435822-35436734	GM12878	blood:	n/a	n/a
18	TAF1	chr6:35435850-35436616	H1-neurons	neurons:	n/a	n/a
19	SMC3	chr6:35435624-35436364	K562	blood:	n/a	chr6:35435951-35435961
20	TRIM28	chr6:35435631-35436795	K562	blood:	n/a	chr6:35436062-35436070
21	POU2F2	chr6:35435784-35436582	GM12891	blood:	n/a	chr6:35435807-35435819 chr6:35435948-35435960
22	RELA	chr6:35435604-35437159	GM12891	blood:	n/a	n/a
23	CTCF	chr6:35436000-35436150	HL-60	blood:	n/a	chr6:35436045-35436061 chr6:35436044-35436062
24	BRCA1	chr6:35435711-35436747	H1-hESC	embryonic stem cell:	n/a	chr6:35436131-35436140
25	ZBTB33	chr6:35435821-35436640	HepG2	liver:	n/a	chr6:35436126-35436141 chr6:35436584-35436599 chr6:35436131-35436140
26	CTCF	chr6:35436060-35436210	NHDF-neo	bronchial:	n/a	n/a
27	POLR2A	chr6:35435798-35437515	NB4	blood:	n/a	n/a
28	ELK1	chr6:35435837-35436692	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr6:35435785-35437257	MCF-7	breast:	n/a	n/a
30	POLR2A	chr6:35435743-35436970	GM12878	blood:	n/a	n/a
31	CTCF	chr6:35436000-35436150	HPAF	blood vessel:	n/a	chr6:35436045-35436061 chr6:35436044-35436062
32	CTCF	chr6:35435980-35436130	HCM	heart:	n/a	chr6:35436045-35436061 chr6:35436044-35436062
33	CTCF	chr6:35435980-35436130	HAc	cerebellar:	n/a	chr6:35436045-35436061 chr6:35436044-35436062
34	RAD21	chr6:35435789-35436325	SK-N-SH_RA	brain:	n/a	n/a
35	BCLAF1	chr6:35435812-35436622	GM12878	blood:	n/a	n/a
36	TAF1	chr6:35435885-35436673	MCF-7	breast:	n/a	n/a
37	CTCF	chr6:35435980-35436130	MCF-7	breast:	n/a	chr6:35436045-35436061 chr6:35436044-35436062
38	POLR2A	chr6:35435750-35438458	Raji	blood:	n/a	n/a
39	RAD21	chr6:35435906-35436212	GM12878	blood:	n/a	n/a
40	TBL1XR1	chr6:35435467-35436401	K562	blood:	n/a	n/a
41	ETS1	chr6:35435888-35436466	GM12878	blood:	n/a	chr6:35436131-35436140
42	ELK1	chr6:35435803-35436359	GM12878	blood:	n/a	n/a
43	CTCF	chr6:35436020-35436170	GM12874	blood:	n/a	chr6:35436045-35436061 chr6:35436044-35436062
44	CTCF	chr6:35435925-35436187	LNCaP	prostate:	n/a	chr6:35436045-35436061 chr6:35435948-35435961 chr6:35436044-35436062
45	TEAD4	chr6:35435457-35436866	K562	blood:	n/a	n/a
46	MAX	chr6:35436026-35436443	K562	blood:	n/a	n/a
47	MYC	chr6:35435772-35437029	MCF10A-Er-Src	breast:	n/a	n/a
48	PAX5	chr6:35435821-35436322	GM12878	blood:	n/a	n/a
49	CTCF	chr6:35435980-35436130	WERI-Rb-1	eye:	n/a	chr6:35436045-35436061 chr6:35436044-35436062
50	POLR2A	chr6:35435715-35439366	ECC-1	luminal epithelium:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:35436047-35436097	HRPEpiC	eye:	n/a
2	chr6:35436047-35436097	NHBE	bronchial:	n/a
3	chr6:35436047-35436097	PFSK-1	brain:	n/a
4	chr6:35436047-35436097	HCPEpiC	choroid plexus:	n/a
5	chr6:35436047-35436097	SK-N-SH	brain:	n/a
6	chr6:35436047-35436097	A549	lung:	n/a
7	chr6:35436047-35436097	SK-N-MC	brain:	n/a
8	chr6:35436047-35436097	HCF	heart:	n/a
9	chr6:35436047-35436097	H1-hESC	embryonic stem cell:	embryo
10	chr6:35436047-35436097	GM12892	blood:	n/a
11	chr6:35436047-35436097	SK-N-SH_RA	brain:	n/a
12	chr6:35436047-35436097	GM06990	blood:	n/a
13	chr6:35436047-35436097	HEEpiC	esophagus:	n/a
14	chr6:35436047-35436097	MCF10A-Er-Src	breast:	n/a
15	chr6:35436047-35436097	HCM	heart:	n/a
16	chr6:35436047-35436097	CMK	blood:	n/a
17	chr6:35436047-35436097	HRCEpiC	kidney:	n/a
18	chr6:35436047-35436097	PrEC	prostate:	n/a
19	chr6:35436047-35436097	HEK293	kidney:	embryo
20	chr6:35436047-35436097	PANC-1	pancreas:	n/a
21	chr6:35436047-35436097	K562	blood:	n/a
22	chr6:35436047-35436097	NHDF-neo	bronchial:	n/a
23	chr6:35436047-35436097	BJ	skin:	n/a
24	chr6:35436047-35436097	T-47D	breast:	n/a
25	chr6:35436047-35436097	LNCaP	prostate:	n/a
26	chr6:35436047-35436097	RPTEC	kidney:	n/a
27	chr6:35436047-35436097	AG04450	lung:	fetal
28	chr6:35436047-35436097	SKMC	muscle:	n/a
29	chr6:35436047-35436097	HL-60	blood:	n/a
30	chr6:35436047-35436097	HMEC	breast:	n/a
31	chr6:35436047-35436097	HCT-116	colon:	n/a
32	chr6:35436047-35436097	HRE	kidney:	n/a
33	chr6:35436047-35436097	AoSMC	blood vessel:	n/a
34	chr6:35436047-35436097	HPAEpiC	pulmonary alveolar:	n/a
35	chr6:35436047-35436097	Hela-S3	cervix:	n/a
36	chr6:35436047-35436097	IMR90	lung:	fetal
37	chr6:35436047-35436097	GM19239	blood:	n/a
38	chr6:35436047-35436097	Jurkat	blood:	n/a
39	chr6:35436047-35436097	AG04449	skin:	fetal
40	chr6:35436047-35436097	Hepatocyte	liver:	n/a
41	chr6:35436047-35436097	SAEC	small airway:	n/a
42	chr6:35436047-35436097	HNPCEpiC	eye:	n/a
43	chr6:35436047-35436097	MCF-7	breast:	n/a
44	chr6:35436047-35436097	Caco-2	colon:	n/a
45	chr6:35436047-35436097	AG10803	skin:	n/a
46	chr6:35436047-35436097	NT2-D1	testis:	n/a
47	chr6:35436047-35436097	AG09319	gingival:	n/a
48	chr6:35436047-35436097	HUVEC	blood vessel:	n/a
49	chr6:35436047-35436097	AG09309	skin:	n/a
50	chr6:35436047-35436097	ProgFib	skin:	n/a

(count:43 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:22385254..22386243-chr6:35435794..35436380,2	HCT-116	colon:
2	chr6:26056308..26057054-chr6:35436068..35436860,2	Hela-S3	cervix:
3	chr12:54366608..54368151-chr6:35435475..35437868,2	MCF-7	breast:
4	chr6:35425207..35426152-chr6:35435554..35436139,3	K562	blood:
5	chr10:114711341..114712330-chr6:35436015..35436846,2	Hela-S3	cervix:
6	chr17:57915251..57915775-chr6:35435606..35436376,2	Hela-S3	cervix:
7	chr6:35226066..35229330-chr6:35434346..35438215,4	K562	blood:
8	chr6:35259383..35261485-chr6:35435927..35437799,2	MCF-7	breast:
9	chr6:35435945..35437939-chr6:35694170..35698146,4	MCF-7	breast:
10	chr6:34855314..34856910-chr6:35435686..35437650,2	MCF-7	breast:
11	chr6:35308405..35313609-chr6:35434054..35440248,12	K562	blood:
12	chr6:35410187..35412214-chr6:35434908..35436495,2	K562	blood:
13	chr6:35260730..35269335-chr6:35433870..35444063,22	MCF-7	breast:
14	chr6:35434857..35438603-chr6:35692996..35696802,4	K562	blood:
15	chr6:26045293..26047313-chr6:35435617..35437589,2	MCF-7	breast:
16	chr16:31519299..31520039-chr6:35435669..35436598,2	HCT-116	colon:
17	chr6:35270811..35278072-chr6:35434777..35439344,8	MCF-7	breast:
18	chr1:22109654..22110213-chr6:35435641..35436558,2	Hela-S3	cervix:
19	chr6:35265354..35265988-chr6:35435663..35436240,2	MCF-7	breast:
20	chr6:35308378..35313609-chr6:35433550..35439145,12	K562	blood:
21	chr6:35309215..35314259-chr6:35432456..35439068,10	MCF-7	breast:
22	chr6:35227094..35229802-chr6:35433183..35436613,4	K562	blood:
23	chr6:35265067..35266084-chr6:35435395..35436525,11	K562	blood:
24	chr16:53536981..53537865-chr6:35435748..35436675,2	NB4	blood:
25	chr6:35435012..35436668-chr6:35752247..35755003,2	MCF-7	breast:
26	chr6:35265112..35265974-chr6:35435522..35436961,5	MCF-7	breast:
27	chr15:55700055..55700776-chr6:35435724..35436851,3	Hela-S3	cervix:
28	chr6:35264065..35266185-chr6:35435418..35437067,2	MCF-7	breast:
29	chr1:207924892..207925541-chr6:35435801..35436654,2	Hela-S3	cervix:
30	chr6:35309667..35310668-chr6:35435356..35436547,17	K562	blood:
31	chr11:2397606..2400001-chr6:35434655..35437647,2	K562	blood:
32	chr6:35309662..35310600-chr6:35435587..35436198,4	MCF-7	breast:
33	chr6:35435995..35436585-chr7:26239889..26240720,2	HCT-116	colon:
34	chr6:35227190..35227798-chr6:35435609..35436281,2	K562	blood:
35	chr6:35434775..35437842-chr6:35701549..35705876,5	MCF-7	breast:
36	chr6:35418617..35424875-chr6:35434196..35438070,12	MCF-7	breast:
37	chr6:35226330..35228825-chr6:35434969..35437843,3	MCF-7	breast:
38	chr17:41150274..41150856-chr6:35435959..35436552,2	HCT-116	colon:
39	chr6:35257372..35267692-chr6:35433856..35438688,25	K562	blood:
40	chr6:35435616..35437664-chrX:153627963..153630833,2	K562	blood:
41	chr6:35415818..35424678-chr6:35432486..35440672,36	K562	blood:
42	chr6:35433822..35437754-chr6:35703135..35706478,6	K562	blood:
43	chr6:35257372..35267871-chr6:35433266..35439192,25	K562	blood:

No data

Variant related genes	Relation type
RPL10A	TF binding region
RPL10A	CpG island
ENSG00000196532	Chromatin interaction
ENSG00000157343	Chromatin interaction
ENSG00000065029	Chromatin interaction
ENSG00000122566	Chromatin interaction
ENSG00000023892	Chromatin interaction
ENSG00000110651	Chromatin interaction
ENSG00000261652	Chromatin interaction
ENSG00000140743	Chromatin interaction
ENSG00000166971	Chromatin interaction
ENSG00000112039	Chromatin interaction
ENSG00000238184	Chromatin interaction
ENSG00000147403	Chromatin interaction
ENSG00000260790	Chromatin interaction
ENSG00000131469	Chromatin interaction
ENSG00000232909	Chromatin interaction
ENSG00000112033	Chromatin interaction
ENSG00000090686	Chromatin interaction
ENSG00000233547	Chromatin interaction
ENSG00000140688	Chromatin interaction
ENSG00000187837	Chromatin interaction
ENSG00000260625	Chromatin interaction
ENSG00000227154	Chromatin interaction
ENSG00000096060	Chromatin interaction
ENSG00000117335	Chromatin interaction
ENSG00000204140	Chromatin interaction
ENSG00000064995	Chromatin interaction
ENSG00000062716	Chromatin interaction
ENSG00000123388	Chromatin interaction
ENSG00000207165	Chromatin interaction
ENSG00000260916	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs35080860	1.00[ASN][1000 genomes]
rs41270068	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56175055	1.00[ASN][1000 genomes]
rs56941839	1.00[ASN][1000 genomes]
rs73745198	1.00[ASN][1000 genomes]
rs73745201	1.00[ASN][1000 genomes]
rs73745202	1.00[ASN][1000 genomes]
rs73746404	1.00[ASN][1000 genomes]
rs9658081	1.00[ASN][1000 genomes]
rs9658093	1.00[ASN][1000 genomes]
rs9658094	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830641	chr6:35282534-35440603	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	57 gene(s)	inside rSNPs	diseases
2	nsv528351	chr6:35377922-35465786	Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	69 gene(s)	inside rSNPs	diseases
3	nsv885799	chr6:35378778-35442397	Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	54 gene(s)	inside rSNPs	diseases
4	nsv462908	chr6:35378778-35457396	Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
5	nsv602910	chr6:35378778-35457396	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
6	nsv519370	chr6:35378778-35537406	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	72 gene(s)	inside rSNPs	diseases
7	nsv984463	chr6:35432948-35477634	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	67 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:35435200-35440200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr6:35435400-35436400	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr6:35435400-35436400	Active TSS	A549	lung
4	chr6:35435400-35436600	Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr6:35435400-35436600	Active TSS	Fetal Brain Male	brain
6	chr6:35435400-35437000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr6:35435400-35437000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
8	chr6:35435400-35437000	Active TSS	Thymus	Thymus
9	chr6:35435400-35437200	Active TSS	Duodenum Smooth Muscle	Duodenum
10	chr6:35435600-35436800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
11	chr6:35435600-35436800	Active TSS	Colonic Mucosa	Colon
12	chr6:35435600-35436800	Active TSS	Esophagus	oesophagus
13	chr6:35435600-35437200	Active TSS	H9 Cell Line	embryonic stem cell
14	chr6:35435600-35437200	Active TSS	HUES64 Cell Line	embryonic stem cell
15	chr6:35435600-35437200	Active TSS	Primary T cells from cord blood	blood
16	chr6:35435600-35437200	Active TSS	Brain Hippocampus Middle	brain
17	chr6:35435600-35437200	Active TSS	Brain Substantia Nigra	brain
18	chr6:35435600-35437400	Active TSS	Colon Smooth Muscle	Colon
19	chr6:35435600-35437400	Active TSS	Left Ventricle	heart
20	chr6:35435600-35437400	Active TSS	Psoas Muscle	Psoas
21	chr6:35435600-35437400	Active TSS	Rectal Smooth Muscle	rectum
22	chr6:35435600-35437400	Active TSS	Right Ventricle	heart
23	chr6:35435600-35437600	Active TSS	Aorta	Aorta
24	chr6:35435600-35437600	Active TSS	Gastric	stomach
25	chr6:35435600-35437600	Active TSS	Sigmoid Colon	Sigmoid Colon
26	chr6:35435600-35437600	Active TSS	HSMMtube	muscle
27	chr6:35435600-35437600	Active TSS	NHDF-Ad	bronchial
28	chr6:35435600-35437800	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr6:35435600-35437800	Active TSS	Ovary	ovary
30	chr6:35435600-35437800	Active TSS	Small Intestine	intestine
31	chr6:35435600-35438800	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr6:35435800-35436200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
33	chr6:35435800-35436200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr6:35435800-35436400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr6:35435800-35436400	Active TSS	iPS-15b Cell Line	embryonic stem cell
36	chr6:35435800-35436400	Active TSS	iPS-20b Cell Line	embryonic stem cell
37	chr6:35435800-35436400	Active TSS	Primary neutrophils fromperipheralblood	blood
38	chr6:35435800-35436400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr6:35435800-35436600	Active TSS	ES-I3 Cell Line	embryonic stem cell
40	chr6:35435800-35436600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr6:35435800-35436600	Active TSS	Primary T helper cells fromperipheralblood	blood
42	chr6:35435800-35436600	Active TSS	Fetal Intestine Small	intestine
43	chr6:35435800-35436600	Active TSS	Fetal Stomach	stomach
44	chr6:35435800-35436600	Transcr. at gene 5' and 3'	Right Atrium	heart
45	chr6:35435800-35436600	Active TSS	Spleen	Spleen
46	chr6:35435800-35436800	Active TSS	iPS-18 Cell Line	embryonic stem cell
47	chr6:35435800-35436800	Active TSS	Primary B cells from peripheral blood	blood
48	chr6:35435800-35436800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr6:35435800-35436800	Active TSS	Fetal Brain Female	brain
50	chr6:35435800-35436800	Active TSS	Fetal Intestine Large	intestine

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