Variant report

Variant	rs7765425
Chromosome Location	chr6:15328073-15328074
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr6:15327295-15328081	SK-N-SH	brain:	n/a	chr6:15327668-15327687 chr6:15327825-15327839
2	POLR2A	chr6:15327455-15330043	H1-hESC	embryonic stem cell:	n/a	n/a
3	WRNIP1	chr6:15326524-15328615	GM12878	blood:	n/a	n/a
4	POLR2A	chr6:15327529-15328174	H1-hESC	embryonic stem cell:	n/a	n/a
5	SMC3	chr6:15327408-15328095	SK-N-SH	brain:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:15328030-15328080	NT2-D1	testis:	n/a
2	chr6:15328030-15328080	HNPCEpiC	eye:	n/a
3	chr6:15328030-15328080	HAEpiC	amniotic membrane:	n/a
4	chr6:15328030-15328080	HRCEpiC	kidney:	n/a
5	chr6:15328030-15328080	GM12891	blood:	n/a
6	chr6:15328030-15328080	IMR90	lung:	fetal
7	chr6:15328030-15328080	Jurkat	blood:	n/a
8	chr6:15328030-15328080	SK-N-SH_RA	brain:	n/a
9	chr6:15328030-15328080	ovcar-3	ovarian:	n/a
10	chr6:15328030-15328080	HEK293	kidney:	embryo
11	chr6:15328030-15328080	Caco-2	colon:	n/a
12	chr6:15328030-15328080	U87	brain:	n/a
13	chr6:15328030-15328080	CMK	blood:	n/a
14	chr6:15328030-15328080	HepG2	liver:	n/a
15	chr6:15328030-15328080	HEEpiC	esophagus:	n/a
16	chr6:15328030-15328080	RPTEC	kidney:	n/a
17	chr6:15328030-15328080	PFSK-1	brain:	n/a
18	chr6:15328030-15328080	HIPEpiC	eye:	n/a
19	chr6:15328030-15328080	K562	blood:	n/a
20	chr6:15328030-15328080	HRE	kidney:	n/a
21	chr6:15328030-15328080	H1-hESC	embryonic stem cell:	embryo
22	chr6:15328030-15328080	PrEC	prostate:	n/a
23	chr6:15328030-15328080	HCF	heart:	n/a
24	chr6:15328030-15328080	AG10803	skin:	n/a
25	chr6:15328030-15328080	ECC-1	luminal epithelium:	n/a
26	chr6:15328030-15328080	NHBE	bronchial:	n/a
27	chr6:15328030-15328080	GM19239	blood:	n/a
28	chr6:15328030-15328080	HPAEpiC	pulmonary alveolar:	n/a
29	chr6:15328030-15328080	NB4	blood:	n/a
30	chr6:15328030-15328080	GM06990	blood:	n/a
31	chr6:15328030-15328080	SAEC	small airway:	n/a
32	chr6:15328030-15328080	MCF10A-Er-Src	breast:	n/a
33	chr6:15328030-15328080	SK-N-SH	brain:	n/a
34	chr6:15328030-15328080	HRPEpiC	eye:	n/a
35	chr6:15328030-15328080	AG09319	gingival:	n/a
36	chr6:15328030-15328080	HMEC	breast:	n/a
37	chr6:15328030-15328080	HL-60	blood:	n/a
38	chr6:15328030-15328080	AG09309	skin:	n/a
39	chr6:15328030-15328080	HCT-116	colon:	n/a
40	chr6:15328030-15328080	Hela-S3	cervix:	n/a
41	chr6:15328030-15328080	HCM	heart:	n/a
42	chr6:15328030-15328080	ProgFib	skin:	n/a
43	chr6:15328030-15328080	A549	lung:	n/a
44	chr6:15328030-15328080	AG04449	skin:	fetal
45	chr6:15328030-15328080	BJ	skin:	n/a
46	chr6:15328030-15328080	NHDF-neo	bronchial:	n/a
47	chr6:15328030-15328080	HCPEpiC	choroid plexus:	n/a
48	chr6:15328030-15328080	PANC-1	pancreas:	n/a
49	chr6:15328030-15328080	SK-N-MC	brain:	n/a
50	chr6:15328030-15328080	AG04450	lung:	fetal

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:15320928..15323607-chr6:15325318..15329724,5	K562	blood:
2	chr6:15324352..15327227-chr6:15327353..15329031,3	K562	blood:
3	chr6:15326922..15329767-chr6:15340745..15343836,3	K562	blood:
4	chr6:15310524..15313443-chr6:15327959..15329867,2	K562	blood:

No data

Variant related genes	Relation type
RNU6-645P	TF binding region
RNU6-645P	CpG island
ENSG00000201519	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10949291	0.95[ASN][1000 genomes]
rs10949292	0.95[ASN][1000 genomes]
rs10949293	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10949294	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes]
rs10949295	1.00[CHB][hapmap]
rs11753952	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11759040	1.00[JPT][hapmap]
rs11759478	1.00[CHB][hapmap];0.82[EUR][1000 genomes]
rs11759828	0.90[ASN][1000 genomes]
rs11759847	0.90[ASN][1000 genomes]
rs12192599	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12198692	1.00[CHB][hapmap];0.92[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12198694	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12199895	1.00[CHB][hapmap];0.92[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12201889	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12204124	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs12205420	0.90[ASN][1000 genomes]
rs12206745	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs12209228	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12209453	0.90[ASN][1000 genomes]
rs12209539	0.95[ASN][1000 genomes]
rs12209748	1.00[ASN][1000 genomes]
rs12210592	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12211278	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes]
rs12211777	0.82[EUR][1000 genomes]
rs12212013	1.00[ASN][1000 genomes]
rs12215596	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12215740	1.00[ASN][1000 genomes]
rs13192347	1.00[CHB][hapmap]
rs13194410	1.00[CHB][hapmap]
rs13205396	1.00[CHB][hapmap]
rs13205612	1.00[CHB][hapmap]
rs16876250	0.82[EUR][1000 genomes]
rs16876278	1.00[CHB][hapmap]
rs17575737	1.00[CHB][hapmap]
rs17576233	1.00[CHB][hapmap]
rs17576436	1.00[CHB][hapmap]
rs17619730	1.00[JPT][hapmap]
rs17619838	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17637773	1.00[CHB][hapmap]
rs17638192	1.00[CHB][hapmap]
rs17687211	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17713010	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs55634912	1.00[ASN][1000 genomes]
rs55980198	1.00[ASN][1000 genomes]
rs6902997	0.90[ASN][1000 genomes]
rs6919296	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6935879	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6938919	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs72834551	0.95[ASN][1000 genomes]
rs72834590	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027010	chr6:15201803-15425629	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv538140	chr6:15217899-15547127	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1030558	chr6:15234675-15449137	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv538141	chr6:15234675-15509163	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv538142	chr6:15243960-15404893	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
6	nsv949448	chr6:15279490-15449441	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv1025512	chr6:15291551-15452395	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv538143	chr6:15291551-15452395	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv538144	chr6:15310696-15364984	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:15311200-15330600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:15319000-15328600	Weak transcription	HSMM	muscle
3	chr6:15319200-15329000	Weak transcription	Fetal Muscle Leg	muscle
4	chr6:15319400-15335800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr6:15320400-15328600	Weak transcription	Brain Germinal Matrix	brain
6	chr6:15323200-15328800	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr6:15323600-15329000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:15323600-15329600	Weak transcription	Placenta	Placenta
9	chr6:15323800-15328400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr6:15323800-15328400	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr6:15323800-15328800	Weak transcription	HSMMtube	muscle
12	chr6:15323800-15329000	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr6:15323800-15330000	Weak transcription	A549	lung
14	chr6:15323800-15337000	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr6:15324000-15328600	Weak transcription	NHLF	lung
16	chr6:15324000-15330200	Weak transcription	Hela-S3	cervix
17	chr6:15324400-15328400	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr6:15324400-15332400	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr6:15324600-15333000	Enhancers	Primary B cells from peripheral blood	blood
20	chr6:15324800-15333000	Enhancers	Primary B cells from cord blood	blood
21	chr6:15324800-15339800	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr6:15325000-15330400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr6:15325000-15332600	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr6:15325200-15330000	Enhancers	Fetal Intestine Small	intestine
25	chr6:15325200-15330400	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr6:15325400-15328400	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr6:15325400-15331400	Enhancers	H1 Cell Line	embryonic stem cell
28	chr6:15325400-15332400	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr6:15325400-15333000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr6:15325600-15329000	Genic enhancers	HUES48 Cell Line	embryonic stem cell
31	chr6:15325600-15331200	Weak transcription	Liver	Liver
32	chr6:15325600-15331600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr6:15325600-15332800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr6:15325800-15328200	Enhancers	K562	blood
35	chr6:15325800-15330600	Enhancers	Adipose Nuclei	Adipose
36	chr6:15325800-15333000	Enhancers	Primary T cells fromperipheralblood	blood
37	chr6:15326000-15328800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr6:15326000-15330200	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr6:15326200-15329600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr6:15326200-15331800	Enhancers	NHEK	skin
41	chr6:15326400-15329200	Flanking Active TSS	GM12878-XiMat	blood
42	chr6:15326400-15329800	Genic enhancers	HUES6 Cell Line	embryonic stem cell
43	chr6:15326400-15330000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr6:15326400-15330600	Enhancers	Spleen	Spleen
45	chr6:15326400-15331600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr6:15326400-15331800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr6:15326400-15332400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr6:15326400-15332400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr6:15326600-15328200	Enhancers	Rectal Mucosa Donor 29	rectum
50	chr6:15326600-15328800	Genic enhancers	Fetal Thymus	thymus

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