Variant report

Variant	rs1322647
Chromosome Location	chr6:36409741-36409742
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	POLR2A	chr6:36409000-36409745	PBDE	blood:	n/a	n/a
2	EP300	chr6:36408863-36409769	K562	blood:	n/a	chr6:36409337-36409344
3	POLR2A	chr6:36408974-36412231	Hela-S3	cervix:	n/a	n/a
4	EP300	chr6:36408929-36409752	K562	blood:	n/a	chr6:36409337-36409344
5	NR2F2	chr6:36408700-36411574	K562	blood:	n/a	n/a
6	CHD1	chr6:36408663-36412851	IMR90	lung:	n/a	n/a
7	POLR2A	chr6:36409645-36411313	K562	blood:	n/a	n/a
8	ELF1	chr6:36408895-36409794	HCT-116	colon:	n/a	chr6:36409335-36409344 chr6:36409332-36409345 chr6:36409334-36409345 chr6:36409334-36409345
9	TEAD4	chr6:36408957-36409853	K562	blood:	n/a	n/a
10	CREB1	chr6:36408974-36409751	HepG2	liver:	n/a	n/a
11	POLR2A	chr6:36409000-36409756	K562	blood:	n/a	n/a
12	SP1	chr6:36408815-36409776	HCT-116	colon:	n/a	n/a
13	JUND	chr6:36409212-36409801	H1-hESC	embryonic stem cell:	n/a	chr6:36409382-36409393 chr6:36409383-36409393 chr6:36409384-36409392 chr6:36409383-36409393 chr6:36409383-36409393
14	MXI1	chr6:36408807-36409775	SK-N-SH	brain:	n/a	chr6:36409388-36409403
15	PML	chr6:36409051-36409746	GM12878	blood:	n/a	chr6:36409385-36409394
16	POLR2A	chr6:36408961-36411312	Hela-S3	cervix:	n/a	n/a
17	IRF1	chr6:36408487-36409778	K562	blood:	n/a	chr6:36409499-36409519 chr6:36408671-36408682 chr6:36408668-36408681 chr6:36409507-36409521 chr6:36408669-36408686 chr6:36408670-36408681
18	POLR2A	chr6:36408968-36409784	K562	blood:	n/a	n/a
19	CREB1	chr6:36408841-36409787	K562	blood:	n/a	n/a
20	EP300	chr6:36409010-36409796	GM12878	blood:	n/a	chr6:36409337-36409344
21	ARID3A	chr6:36408958-36409765	K562	blood:	n/a	n/a
22	MAFK	chr6:36409080-36409791	HepG2	liver:	n/a	chr6:36409643-36409653
23	POLR2A	chr6:36409014-36409778	HepG2	liver:	n/a	n/a
24	FOSL2	chr6:36409056-36409743	A549	lung:	n/a	chr6:36409383-36409393 chr6:36409384-36409392 chr6:36409383-36409393 chr6:36409383-36409393
25	JUN	chr6:36408264-36409817	K562	blood:	n/a	chr6:36409008-36409019 chr6:36408429-36408441 chr6:36409383-36409393 chr6:36409384-36409392 chr6:36409383-36409393 chr6:36409383-36409393
26	JUND	chr6:36408907-36409802	SK-N-SH	brain:	n/a	chr6:36409008-36409019 chr6:36409382-36409393 chr6:36409383-36409393 chr6:36409384-36409392 chr6:36409383-36409393 chr6:36409383-36409393
27	JUND	chr6:36408904-36409741	HCT-116	colon:	n/a	chr6:36409008-36409019 chr6:36409382-36409393 chr6:36409383-36409393 chr6:36409384-36409392 chr6:36409383-36409393 chr6:36409383-36409393
28	UBTF	chr6:36409076-36409741	K562	blood:	n/a	n/a
29	BCLAF1	chr6:36408991-36409768	K562	blood:	n/a	chr6:36409336-36409345
30	IRF1	chr6:36408972-36409815	K562	blood:	n/a	chr6:36409499-36409519 chr6:36409507-36409521
31	JUND	chr6:36409014-36409765	HCT-116	colon:	n/a	chr6:36409382-36409393 chr6:36409383-36409393 chr6:36409384-36409392 chr6:36409383-36409393 chr6:36409383-36409393
32	POLR2A	chr6:36408770-36412763	IMR90	lung:	n/a	n/a
33	HEY1	chr6:36408947-36409744	HepG2	liver:	n/a	n/a
34	TEAD4	chr6:36408959-36409751	K562	blood:	n/a	n/a
35	CREB1	chr6:36409007-36409766	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:36408507..36410164-chr6:36494745..36497316,2	K562	blood:
2	chr6:36409676..36411524-chr6:36561404..36563717,3	MCF-7	breast:
3	chr6:36408693..36414213-chr6:36560362..36565197,15	MCF-7	breast:
4	chr6:30687753..30689397-chr6:36409717..36412070,2	K562	blood:
5	chr6:36352878..36356022-chr6:36409199..36411763,4	K562	blood:
6	chr6:36403741..36414959-chr6:36560215..36569964,50	K562	blood:
7	chr6:36406846..36414829-chr6:36558734..36566025,43	K562	blood:
8	chr6:36409344..36412329-chr6:36513269..36516052,4	MCF-7	breast:
9	chr6:36164615..36166150-chr6:36409127..36410666,2	K562	blood:
10	chr6:36408851..36410684-chr6:36512554..36515336,3	K562	blood:
11	chr6:36409184..36410963-chr6:36513836..36516900,3	K562	blood:

Variant related genes	Relation type
KCTD20	TF binding region
ENSG00000246982	Chromatin interaction
ENSG00000112081	Chromatin interaction
ENSG00000196230	Chromatin interaction
ENSG00000096070	Chromatin interaction
ENSG00000112079	Chromatin interaction
ENSG00000010030	Chromatin interaction
ENSG00000224666	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs28655492	1.00[AMR][1000 genomes]
rs536563	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57069130	1.00[AMR][1000 genomes]
rs57305886	1.00[AMR][1000 genomes]
rs57882234	1.00[AMR][1000 genomes]
rs586036	1.00[MKK][hapmap]
rs58860412	1.00[AMR][1000 genomes]
rs601606	0.92[YRI][hapmap];0.88[AFR][1000 genomes]
rs60233032	1.00[AMR][1000 genomes]
rs60493278	1.00[AMR][1000 genomes]
rs60908479	1.00[AMR][1000 genomes]
rs615402	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs632643	0.84[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6901597	1.00[AMR][1000 genomes]
rs6902434	1.00[AMR][1000 genomes]
rs9368932	0.91[AFR][1000 genomes];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	nsv885806	chr6:36349890-36621178	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	103 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36399000-36410200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr6:36407000-36410200	Enhancers	Fetal Intestine Small	intestine
3	chr6:36407400-36410000	Enhancers	Hela-S3	cervix
4	chr6:36407400-36410200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr6:36407800-36410000	Weak transcription	Lung	lung
6	chr6:36408400-36410000	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr6:36408400-36410600	Flanking Active TSS	K562	blood
8	chr6:36408600-36409800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr6:36408600-36410000	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr6:36408600-36410000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr6:36408600-36410000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr6:36408600-36410000	Enhancers	Muscle Satellite Cultured Cells	--
13	chr6:36408600-36410000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr6:36408600-36410000	Enhancers	Duodenum Smooth Muscle	Duodenum
15	chr6:36408600-36410000	Enhancers	Thymus	Thymus
16	chr6:36408600-36410000	Enhancers	NHEK	skin
17	chr6:36408600-36410200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr6:36408600-36410200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr6:36408600-36410200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr6:36408600-36410200	Enhancers	HSMMtube	muscle
21	chr6:36408600-36410200	Enhancers	HUVEC	blood vessel
22	chr6:36408600-36410200	Enhancers	NHDF-Ad	bronchial
23	chr6:36408800-36410000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr6:36408800-36410000	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr6:36408800-36410000	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr6:36408800-36410000	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr6:36408800-36410000	Enhancers	Adipose Nuclei	Adipose
28	chr6:36408800-36410000	Enhancers	HMEC	breast
29	chr6:36408800-36410200	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr6:36408800-36410200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr6:36408800-36410200	Enhancers	Pancreatic Islets	Pancreatic Islet
32	chr6:36408800-36410200	Enhancers	Fetal Stomach	stomach
33	chr6:36408800-36410200	Enhancers	Rectal Smooth Muscle	rectum
34	chr6:36408800-36410200	Enhancers	NH-A	brain
35	chr6:36408800-36410200	Enhancers	NHLF	lung
36	chr6:36409000-36409800	Flanking Active TSS	GM12878-XiMat	blood
37	chr6:36409000-36410000	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr6:36409000-36410000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr6:36409000-36410000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
40	chr6:36409000-36410000	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr6:36409000-36410000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr6:36409000-36410000	Enhancers	Brain Cingulate Gyrus	brain
43	chr6:36409000-36410000	Enhancers	Brain Hippocampus Middle	brain
44	chr6:36409000-36410000	Enhancers	Fetal Thymus	thymus
45	chr6:36409000-36410000	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr6:36409000-36410000	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr6:36409000-36410000	Enhancers	Stomach Mucosa	stomach
48	chr6:36409000-36410000	Active TSS	Stomach Smooth Muscle	stomach
49	chr6:36409000-36410200	Enhancers	H1 Cell Line	embryonic stem cell
50	chr6:36409000-36410200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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