Variant report

Variant	rs533699003
Chromosome Location	chr6:34202435-34202436
allele	A/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	BACH1	chr6:34202422-34204707	H1-hESC	embryonic stem cell:	n/a	chr6:34203549-34203563
2	POLR2A	chr6:34200608-34205166	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr6:34201638-34203334	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr6:34202424-34203239	H1-hESC	embryonic stem cell:	n/a	n/a
5	CHD1	chr6:34202293-34202909	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr6:34202274-34202968	GM12878	blood:	n/a	n/a
7	POLR2A	chr6:34202435-34203351	H1-hESC	embryonic stem cell:	n/a	n/a
8	HEY1	chr6:34201616-34215053	K562	blood:	n/a	chr6:34205512-34205527 chr6:34205439-34205454 chr6:34204283-34204298 chr6:34203773-34203788 chr6:34205883-34205898 chr6:34205653-34205668 chr6:34203678-34203693 chr6:34205885-34205900 chr6:34203234-34203249 chr6:34205368-34205383
9	POLR2A	chr6:34201606-34205138	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr6:34202379-34207004	K562	blood:	n/a	n/a
11	ATF2	chr6:34201901-34202934	H1-hESC	embryonic stem cell:	n/a	n/a
12	POU2F2	chr6:34202431-34202835	GM12878	blood:	n/a	chr6:34202663-34202675 chr6:34202797-34202809 chr6:34202580-34202592
13	TAF7	chr6:34202169-34205158	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr6:34202426-34206860	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:34202426..34206348-chr6:34246132..34251181,8	K562	blood:
2	chr6:34199862..34202607-chr6:34522713..34524428,2	K562	blood:
3	chr6:34129957..34135547-chr6:34199905..34204260,7	K562	blood:
4	chr6:34202422..34206409-chr6:34359682..34362061,4	MCF-7	breast:
5	chr6:34202333..34204420-chr6:34346794..34349148,2	K562	blood:
6	chr6:34202035..34203669-chr6:34568608..34571560,2	K562	blood:
7	chr6:34201303..34203546-chr6:34292849..34294793,2	K562	blood:
8	chr6:34201904..34204640-chr6:34398634..34402211,3	K562	blood:
9	chr6:34128401..34131565-chr6:34200837..34203571,3	K562	blood:
10	chr6:33383299..33386120-chr6:34202398..34204899,2	K562	blood:
11	chr6:34199984..34203528-chr6:34381840..34383462,3	K562	blood:
12	chr6:34201904..34204640-chr6:34398022..34401494,3	K562	blood:
13	chr6:34202383..34217863-chr6:34357259..34364960,37	K562	blood:
14	chr6:34200572..34203532-chr6:34391693..34395651,4	K562	blood:
15	chr6:34200640..34204018-chr6:34638884..34642541,3	K562	blood:
16	chr6:34201689..34203314-chr6:34391693..34393929,2	K562	blood:
17	chr6:34202035..34205684-chr6:35227191..35229008,3	K562	blood:

Variant related genes	Relation type
HMGA1	TF binding region
ENSG00000196821	Chromatin interaction
ENSG00000270800	Chromatin interaction
ENSG00000124614	Chromatin interaction
ENSG00000124664	Chromatin interaction
ENSG00000272325	Chromatin interaction
ENSG00000065029	Chromatin interaction
ENSG00000225339	Chromatin interaction
ENSG00000112514	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432881	chr6:34026522-34213822	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv885781	chr6:34110257-34247661	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv462903	chr6:34110257-34263743	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv602863	chr6:34110257-34263743	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	esv1816380	chr6:34110880-34206718	Transcr. at gene 5' and 3' Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
6	nsv885782	chr6:34187206-34209516	Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Weak 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 miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
7	nsv885783	chr6:34187206-34209844	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
8	nsv885784	chr6:34187206-34246714	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
9	nsv823666	chr6:34201401-34207549	Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
10	esv3444763	chr6:34201999-34204747	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
11	esv3486811	chr6:34202024-34204622	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
12	esv3486812	chr6:34202024-34204622	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
13	esv10483	chr6:34202138-34206094	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34192400-34202600	Weak transcription	Right Atrium	heart
2	chr6:34192400-34203400	Weak transcription	Pancreas	Pancrea
3	chr6:34192400-34203600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr6:34192600-34203600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr6:34192600-34204400	Weak transcription	HSMMtube	muscle
6	chr6:34192800-34203800	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr6:34194400-34203400	Weak transcription	Stomach Mucosa	stomach
8	chr6:34194800-34203600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr6:34195800-34203400	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr6:34195800-34203400	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr6:34195800-34203400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr6:34195800-34203400	Weak transcription	A549	lung
13	chr6:34195800-34203600	Weak transcription	Spleen	Spleen
14	chr6:34196000-34202600	Weak transcription	Thymus	Thymus
15	chr6:34196400-34202600	Weak transcription	Primary B cells from cord blood	blood
16	chr6:34197000-34202800	Weak transcription	Primary B cells from peripheral blood	blood
17	chr6:34197200-34203400	Weak transcription	Fetal Muscle Leg	muscle
18	chr6:34197400-34202600	Weak transcription	Fetal Thymus	thymus
19	chr6:34197400-34203400	Weak transcription	K562	blood
20	chr6:34197400-34203600	Weak transcription	NHLF	lung
21	chr6:34198000-34203400	Weak transcription	GM12878-XiMat	blood
22	chr6:34198200-34203400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr6:34198400-34203200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr6:34198800-34203400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr6:34198800-34203400	Weak transcription	Hela-S3	cervix
26	chr6:34199000-34202600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr6:34199000-34203000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr6:34199000-34203400	Weak transcription	Esophagus	oesophagus
29	chr6:34199000-34203400	Weak transcription	HMEC	breast
30	chr6:34199000-34203400	Weak transcription	NH-A	brain
31	chr6:34199000-34203800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr6:34199200-34203000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr6:34199200-34203400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr6:34199200-34203400	Weak transcription	NHEK	skin
35	chr6:34199400-34203200	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr6:34199600-34203400	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr6:34199600-34203600	Weak transcription	Brain Anterior Caudate	brain
38	chr6:34200200-34202600	Weak transcription	Right Ventricle	heart
39	chr6:34200800-34202600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr6:34200800-34202800	Weak transcription	Placenta	Placenta
41	chr6:34201000-34202600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr6:34201000-34203400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr6:34201200-34203800	Weak transcription	NHDF-Ad	bronchial
44	chr6:34201200-34203800	Weak transcription	Osteobl	bone
45	chr6:34201200-34204200	Weak transcription	HSMM	muscle
46	chr6:34201400-34202600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr6:34201600-34203400	Weak transcription	Primary T cells from cord blood	blood
48	chr6:34201800-34202600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
49	chr6:34201800-34202600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
50	chr6:34201800-34203800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links