Variant report

Variant	rs11973842
Chromosome Location	chr7:100482820-100482821
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:26)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:26 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:100482512-100488569	K562	blood:	n/a	n/a
2	POLR2A	chr7:100482631-100483147	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr7:100480317-100488960	GM12878	blood:	n/a	n/a
4	POLR2A	chr7:100482790-100483126	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr7:100482700-100482863	ProgFib	skin:	n/a	n/a
6	POLR2A	chr7:100482812-100483212	A549	lung:	n/a	n/a
7	POLR2A	chr7:100480382-100488921	K562	blood:	n/a	n/a
8	POLR2A	chr7:100481058-100488237	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr7:100481688-100483394	GM12892	blood:	n/a	n/a
10	POLR2A	chr7:100480707-100488395	K562	blood:	n/a	n/a
11	POLR2A	chr7:100482275-100488325	SK-N-MC	brain:	n/a	n/a
12	POLR2A	chr7:100481303-100483301	GM12878	blood:	n/a	n/a
13	POLR2A	chr7:100482808-100482969	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr7:100482776-100487720	GM12892	blood:	n/a	n/a
15	POLR2A	chr7:100482796-100483674	GM12878	blood:	n/a	n/a
16	POLR2A	chr7:100482414-100488528	HepG2	liver:	n/a	n/a
17	POLR2A	chr7:100482819-100483288	GM12878	blood:	n/a	n/a
18	POLR2A	chr7:100482812-100488482	SK-N-SH	brain:	n/a	n/a
19	POLR2A	chr7:100482325-100482844	K562	blood:	n/a	n/a
20	POLR2A	chr7:100482229-100483027	GM12891	blood:	n/a	n/a
21	POLR2A	chr7:100482415-100488355	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr7:100481436-100483371	GM12892	blood:	n/a	n/a
23	POLR2A	chr7:100481005-100489061	K562	blood:	n/a	n/a
24	POLR2A	chr7:100482216-100483274	GM12891	blood:	n/a	n/a
25	POLR2A	chr7:100482697-100483097	MCF-7	breast:	n/a	n/a
26	POLR2A	chr7:100481367-100484271	HL-60	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr7:100274295..100276245-chr7:100482186..100484644,2	K562	blood:
2	chr7:100179244..100181643-chr7:100480633..100482895,2	MCF-7	breast:
3	chr7:100421802..100424702-chr7:100482689..100484467,2	MCF-7	breast:
4	chr7:100302365..100304789-chr7:100482401..100486103,3	K562	blood:

No data

Variant related genes	Relation type
SRRT	TF binding region
ENSG00000172336	Chromatin interaction
ENSG00000077454	Chromatin interaction
ENSG00000172354	Chromatin interaction
ENSG00000196411	Chromatin interaction
ENSG00000146828	Chromatin interaction
ENSG00000106336	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11974682	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11983638	1.00[EUR][1000 genomes]
rs17228581	1.00[EUR][1000 genomes]
rs17228609	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17234989	1.00[EUR][1000 genomes]
rs17881354	1.00[AMR][1000 genomes]
rs17881553	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17885823	1.00[EUR][1000 genomes]
rs35246066	1.00[EUR][1000 genomes]
rs61746950	1.00[AMR][1000 genomes]

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	esv1829095	chr7:99814675-100494084	Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	393 gene(s)	inside rSNPs	diseases
2	nsv1020837	chr7:100313122-100508635	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	esv1832517	chr7:100355490-100749246	Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
4	esv2758125	chr7:100355490-100749246	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
5	esv2759547	chr7:100355490-100749246	Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
6	nsv464647	chr7:100374087-100497131	Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
7	nsv607965	chr7:100374087-100497131	Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
8	nsv1032673	chr7:100382250-100606794	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
9	nsv888799	chr7:100406144-100497131	Enhancers Bivalent Enhancer Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
10	nsv888801	chr7:100416250-100497131	Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
11	nsv464648	chr7:100422156-100518458	Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
12	nsv607966	chr7:100422156-100518458	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
13	nsv831073	chr7:100425659-100544888	Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100473600-100486600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:100473800-100485600	Weak transcription	Right Atrium	heart
3	chr7:100474600-100484400	Strong transcription	Placenta	Placenta
4	chr7:100474600-100484400	Strong transcription	Fetal Thymus	thymus
5	chr7:100474600-100484600	Strong transcription	HUES6 Cell Line	embryonic stem cell
6	chr7:100474600-100484800	Strong transcription	H1 Cell Line	embryonic stem cell
7	chr7:100474600-100485000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
8	chr7:100474600-100485800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr7:100474600-100486000	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr7:100474800-100484000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr7:100474800-100484400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr7:100474800-100484600	Strong transcription	Rectal Mucosa Donor 31	rectum
13	chr7:100474800-100484800	Strong transcription	A549	lung
14	chr7:100474800-100485000	Strong transcription	Fetal Stomach	stomach
15	chr7:100474800-100485000	Strong transcription	Sigmoid Colon	Sigmoid Colon
16	chr7:100474800-100485600	Strong transcription	HSMM	muscle
17	chr7:100474800-100485800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr7:100474800-100485800	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr7:100474800-100486000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:100475000-100483000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr7:100475000-100483000	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr7:100475000-100484800	Strong transcription	Adipose Nuclei	Adipose
23	chr7:100475000-100485800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr7:100475200-100485400	Strong transcription	Fetal Intestine Large	intestine
25	chr7:100475200-100486000	Strong transcription	Ovary	ovary
26	chr7:100475400-100484800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr7:100475400-100484800	Strong transcription	Liver	Liver
28	chr7:100475600-100484600	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr7:100475600-100484800	Strong transcription	Fetal Lung	lung
30	chr7:100475800-100486000	Strong transcription	NHLF	lung
31	chr7:100475800-100486200	Weak transcription	Fetal Brain Male	brain
32	chr7:100476000-100484200	Strong transcription	Fetal Muscle Leg	muscle
33	chr7:100476000-100484400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr7:100476000-100484800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr7:100476000-100484800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr7:100476000-100485200	Strong transcription	Muscle Satellite Cultured Cells	--
37	chr7:100476200-100485000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr7:100476200-100485000	Strong transcription	Thymus	Thymus
39	chr7:100476200-100485200	Strong transcription	NHEK	skin
40	chr7:100476400-100483200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr7:100476400-100484600	Strong transcription	Hela-S3	cervix
42	chr7:100476400-100485400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr7:100476400-100485800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr7:100476400-100486000	Strong transcription	Osteobl	bone
45	chr7:100476600-100483600	Strong transcription	Primary B cells from peripheral blood	blood
46	chr7:100476600-100484000	Strong transcription	HUVEC	blood vessel
47	chr7:100476600-100484600	Strong transcription	Duodenum Mucosa	Duodenum
48	chr7:100476600-100485800	Strong transcription	NH-A	brain
49	chr7:100477200-100485800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr7:100477400-100483800	Strong transcription	Primary hematopoietic stem cells	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links