Variant report

Variant	rs11983638
Chromosome Location	chr7:100479008-100479009
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:100478951-100479134	GM12878	blood:	n/a	n/a
2	POLR2A	chr7:100478689-100479097	K562	blood:	n/a	n/a
3	POLR2A	chr7:100478921-100479067	K562	blood:	n/a	n/a
4	POLR2A	chr7:100478789-100479920	GM12878	blood:	n/a	n/a
5	POLR2A	chr7:100478744-100479918	GM12892	blood:	n/a	n/a
6	POLR2A	chr7:100478939-100479278	H1-hESC	embryonic stem cell:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:100478967-100479017	GM06990	blood:	n/a
2	chr7:100478967-100479017	HAEpiC	amniotic membrane:	n/a
3	chr7:100478967-100479017	SAEC	small airway:	n/a
4	chr7:100478967-100479017	BJ	skin:	n/a
5	chr7:100478967-100479017	HCT-116	colon:	n/a
6	chr7:100478967-100479017	HCPEpiC	choroid plexus:	n/a
7	chr7:100478967-100479017	HIPEpiC	eye:	n/a
8	chr7:100478967-100479017	PFSK-1	brain:	n/a
9	chr7:100478967-100479017	SK-N-MC	brain:	n/a
10	chr7:100478967-100479017	HCF	heart:	n/a
11	chr7:100478967-100479017	AoSMC	blood vessel:	n/a
12	chr7:100478967-100479017	Hepatocyte	liver:	n/a
13	chr7:100478967-100479017	NB4	blood:	n/a
14	chr7:100478967-100479017	T-47D	breast:	n/a
15	chr7:100478967-100479017	LNCaP	prostate:	n/a
16	chr7:100478967-100479017	AG04450	lung:	fetal
17	chr7:100478967-100479017	MCF10A-Er-Src	breast:	n/a
18	chr7:100478967-100479017	HL-60	blood:	n/a
19	chr7:100478967-100479017	HNPCEpiC	eye:	n/a
20	chr7:100478967-100479017	Caco-2	colon:	n/a
21	chr7:100478967-100479017	NT2-D1	testis:	n/a
22	chr7:100478967-100479017	HEEpiC	esophagus:	n/a
23	chr7:100478967-100479017	HRPEpiC	eye:	n/a
24	chr7:100478967-100479017	HUVEC	blood vessel:	n/a
25	chr7:100478967-100479017	H1-hESC	embryonic stem cell:	embryo
26	chr7:100478967-100479017	AG10803	skin:	n/a
27	chr7:100478967-100479017	GM12892	blood:	n/a
28	chr7:100478967-100479017	U87	brain:	n/a
29	chr7:100478967-100479017	AG04449	skin:	fetal
30	chr7:100478967-100479017	MCF-7	breast:	n/a
31	chr7:100478967-100479017	HEK293	kidney:	embryo
32	chr7:100478967-100479017	IMR90	lung:	fetal
33	chr7:100478967-100479017	HepG2	liver:	n/a
34	chr7:100478967-100479017	HMEC	breast:	n/a
35	chr7:100478967-100479017	SK-N-SH_RA	brain:	n/a
36	chr7:100478967-100479017	CMK	blood:	n/a
37	chr7:100478967-100479017	GM12878	blood:	n/a
38	chr7:100478967-100479017	GM12891	blood:	n/a
39	chr7:100478967-100479017	GM19239	blood:	n/a
40	chr7:100478967-100479017	HPAEpiC	pulmonary alveolar:	n/a
41	chr7:100478967-100479017	NH-A	brain:	n/a
42	chr7:100478967-100479017	SK-N-SH	brain:	n/a
43	chr7:100478967-100479017	AG09319	gingival:	n/a
44	chr7:100478967-100479017	ovcar-3	ovarian:	n/a
45	chr7:100478967-100479017	Hela-S3	cervix:	n/a
46	chr7:100478967-100479017	Jurkat	blood:	n/a
47	chr7:100478967-100479017	A549	lung:	n/a
48	chr7:100478967-100479017	PrEC	prostate:	n/a
49	chr7:100478967-100479017	BE2_C	brain:	n/a
50	chr7:100478967-100479017	K562	blood:	n/a

No data

Variant related genes	Relation type
SRRT	TF binding region
SRRT	CpG island

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11973842	1.00[EUR][1000 genomes]
rs11974682	1.00[EUR][1000 genomes]
rs17228581	1.00[EUR][1000 genomes]
rs17228609	1.00[EUR][1000 genomes]
rs17234989	1.00[EUR][1000 genomes]
rs17881553	1.00[EUR][1000 genomes]
rs17885823	1.00[EUR][1000 genomes]
rs35246066	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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	nsv888797	chr7:100386900-100482026	Bivalent/Poised TSS Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
10	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
11	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
12	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
13	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
14	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	chr7:100473800-100479200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:100473800-100485600	Weak transcription	Right Atrium	heart
4	chr7:100474400-100480000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr7:100474600-100480600	Weak transcription	Stomach Mucosa	stomach
6	chr7:100474600-100480800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr7:100474600-100482800	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr7:100474600-100484400	Strong transcription	Placenta	Placenta
9	chr7:100474600-100484400	Strong transcription	Fetal Thymus	thymus
10	chr7:100474600-100484600	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr7:100474600-100484800	Strong transcription	H1 Cell Line	embryonic stem cell
12	chr7:100474600-100485000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
13	chr7:100474600-100485800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
14	chr7:100474600-100486000	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr7:100474800-100479200	Weak transcription	HSMMtube	muscle
16	chr7:100474800-100482800	Strong transcription	Fetal Intestine Small	intestine
17	chr7:100474800-100484000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr7:100474800-100484400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr7:100474800-100484600	Strong transcription	Rectal Mucosa Donor 31	rectum
20	chr7:100474800-100484800	Strong transcription	A549	lung
21	chr7:100474800-100485000	Strong transcription	Fetal Stomach	stomach
22	chr7:100474800-100485000	Strong transcription	Sigmoid Colon	Sigmoid Colon
23	chr7:100474800-100485600	Strong transcription	HSMM	muscle
24	chr7:100474800-100485800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr7:100474800-100485800	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr7:100474800-100486000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr7:100475000-100483000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr7:100475000-100483000	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr7:100475000-100484800	Strong transcription	Adipose Nuclei	Adipose
30	chr7:100475000-100485800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr7:100475200-100485400	Strong transcription	Fetal Intestine Large	intestine
32	chr7:100475200-100486000	Strong transcription	Ovary	ovary
33	chr7:100475400-100484800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr7:100475400-100484800	Strong transcription	Liver	Liver
35	chr7:100475600-100484600	Strong transcription	Rectal Mucosa Donor 29	rectum
36	chr7:100475600-100484800	Strong transcription	Fetal Lung	lung
37	chr7:100475800-100486000	Strong transcription	NHLF	lung
38	chr7:100475800-100486200	Weak transcription	Fetal Brain Male	brain
39	chr7:100476000-100484200	Strong transcription	Fetal Muscle Leg	muscle
40	chr7:100476000-100484400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr7:100476000-100484800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr7:100476000-100484800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr7:100476000-100485200	Strong transcription	Muscle Satellite Cultured Cells	--
44	chr7:100476200-100479400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr7:100476200-100485000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr7:100476200-100485000	Strong transcription	Thymus	Thymus
47	chr7:100476200-100485200	Strong transcription	NHEK	skin
48	chr7:100476400-100481000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr7:100476400-100482600	Strong transcription	Primary neutrophils fromperipheralblood	blood
50	chr7:100476400-100483200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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