Variant report

Variant	rs9496919
Chromosome Location	chr6:144604960-144604961
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	GATA2	chr6:144604903-144605157	HUVEC	blood vessel:	n/a	chr6:144604950-144604964
2	FOXA1	chr6:144604844-144605034	T-47D	breast:	n/a	n/a
3	ZNF263	chr6:144604924-144608542	HEK293-T-REx	kidney:	n/a	chr6:144607029-144607038 chr6:144607880-144607889 chr6:144606409-144606418 chr6:144606412-144606421 chr6:144606416-144606437 chr6:144606415-144606424 chr6:144607284-144607293
4	GATA3	chr6:144604708-144605188	T-47D	breast:	n/a	n/a
5	GATA3	chr6:144604757-144605156	T-47D	breast:	n/a	n/a
6	GATA3	chr6:144604754-144605133	MCF-7	breast:	n/a	n/a
7	RCOR1	chr6:144604958-144608817	IMR90	lung:	n/a	n/a
8	GATA3	chr6:144604858-144605145	MCF-7	breast:	n/a	n/a
9	FOXA1	chr6:144604824-144605138	T-47D	breast:	n/a	n/a
10	SIN3AK20	chr6:144604759-144605335	MCF-7	breast:	n/a	n/a
11	FOXA1	chr6:144604786-144605144	HepG2	liver:	n/a	n/a
12	ZNF217	chr6:144604849-144605514	MCF-7	breast:	n/a	n/a
13	GATA3	chr6:144604769-144605297	MCF-7	breast:	n/a	n/a
14	SIN3AK20	chr6:144604759-144605320	MCF-7	breast:	n/a	n/a
15	GATA3	chr6:144604630-144605405	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:144601184..144602939-chr6:144604140..144606671,2	K562	blood:

Variant related genes	Relation type
UTRN	TF binding region

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11961223	1.00[EUR][1000 genomes]
rs11970218	1.00[EUR][1000 genomes]
rs2146168	1.00[EUR][1000 genomes]
rs2146169	1.00[EUR][1000 genomes]
rs2146171	1.00[EUR][1000 genomes]
rs4613834	1.00[EUR][1000 genomes]
rs6913880	1.00[EUR][1000 genomes]
rs6939413	1.00[EUR][1000 genomes]
rs73587456	1.00[EUR][1000 genomes]
rs7757532	1.00[EUR][1000 genomes]
rs7758116	1.00[EUR][1000 genomes]
rs7759718	1.00[EUR][1000 genomes]
rs7767838	1.00[EUR][1000 genomes]
rs9484849	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830831	chr6:144501371-144649509	Bivalent/Poised TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv830832	chr6:144572378-144759023	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv2422260	chr6:144574591-144731630	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1031253	chr6:144599055-144883013	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv538461	chr6:144599055-144883013	Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144587800-144605000	Weak transcription	Right Atrium	heart
2	chr6:144587800-144605800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:144599200-144605000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr6:144600200-144605000	Weak transcription	A549	lung
5	chr6:144600200-144605200	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr6:144600200-144605400	Weak transcription	Pancreas	Pancrea
7	chr6:144600200-144605400	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr6:144600400-144605000	Weak transcription	Adipose Nuclei	Adipose
9	chr6:144600400-144605000	Weak transcription	Liver	Liver
10	chr6:144600400-144605000	Weak transcription	Hela-S3	cervix
11	chr6:144601000-144605000	Weak transcription	HMEC	breast
12	chr6:144601000-144605400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr6:144601200-144605000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr6:144601200-144605200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr6:144602600-144605200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr6:144602800-144605000	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr6:144604200-144605000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr6:144604200-144605200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr6:144604200-144605400	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr6:144604400-144605000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr6:144604400-144605400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr6:144604600-144605000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr6:144604600-144605400	Enhancers	Placenta	Placenta
24	chr6:144604800-144605000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr6:144604800-144605000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
26	chr6:144604800-144605000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
27	chr6:144604800-144605000	Enhancers	Primary hematopoietic stem cells	blood
28	chr6:144604800-144605000	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr6:144604800-144605000	Enhancers	Muscle Satellite Cultured Cells	--
30	chr6:144604800-144605000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr6:144604800-144605000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr6:144604800-144605000	Enhancers	Duodenum Smooth Muscle	Duodenum
33	chr6:144604800-144605000	Enhancers	Fetal Heart	heart
34	chr6:144604800-144605000	Enhancers	Fetal Stomach	stomach
35	chr6:144604800-144605000	Enhancers	HSMM	muscle
36	chr6:144604800-144605000	Enhancers	HUVEC	blood vessel
37	chr6:144604800-144605000	Enhancers	Monocytes-CD14+_RO01746	blood
38	chr6:144604800-144605000	Enhancers	NH-A	brain
39	chr6:144604800-144605000	Enhancers	NHEK	skin
40	chr6:144604800-144605000	Enhancers	Osteobl	bone
41	chr6:144604800-144605200	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr6:144604800-144605200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr6:144604800-144605200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr6:144604800-144605200	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr6:144604800-144605200	Flanking Active TSS	HepG2	liver
46	chr6:144604800-144605200	Flanking Active TSS	NHDF-Ad	bronchial
47	chr6:144604800-144605400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr6:144604800-144605400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr6:144604800-144605400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
50	chr6:144604800-144605600	Flanking Active TSS	Dnd41	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links