Variant report

Variant	rs2307348
Chromosome Location	chr7:99696962-99696963
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:24)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:24 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:99694417-99699772	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr7:99694703-99697612	GM12892	blood:	n/a	n/a
3	POLR2A	chr7:99694653-99697678	H1-hESC	embryonic stem cell:	n/a	n/a
4	MXI1	chr7:99696123-99700530	SK-N-SH	brain:	n/a	chr7:99696168-99696177 chr7:99699039-99699048
5	POLR2A	chr7:99696453-99697702	HL-60	blood:	n/a	n/a
6	HEY1	chr7:99694628-99697652	K562	blood:	n/a	chr7:99695196-99695205
7	POLR2A	chr7:99696030-99697157	SK-N-SH	brain:	n/a	n/a
8	POLR2A	chr7:99687998-99697728	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr7:99696518-99697641	K562	blood:	n/a	n/a
10	POLR2A	chr7:99687562-99696983	HepG2	liver:	n/a	n/a
11	POLR2A	chr7:99694702-99697727	K562	blood:	n/a	n/a
12	POLR2A	chr7:99694646-99700079	PANC-1	pancreas:	n/a	n/a
13	POLR2A	chr7:99694505-99700789	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr7:99694559-99697007	GM12892	blood:	n/a	n/a
15	POLR2A	chr7:99696843-99697007	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr7:99694635-99697617	K562	blood:	n/a	n/a
17	POLR2A	chr7:99694689-99697009	GM12892	blood:	n/a	n/a
18	POLR2A	chr7:99694594-99699682	GM12878	blood:	n/a	n/a
19	POLR2A	chr7:99696495-99697017	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr7:99696694-99697351	HUVEC	blood vessel:	n/a	n/a
21	ATF2	chr7:99696441-99697189	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr7:99696598-99697015	ECC-1	luminal epithelium:	n/a	n/a
23	POLR2A	chr7:99694577-99700301	SK-N-MC	brain:	n/a	n/a
24	POLR2A	chr7:99696355-99697688	GM12878	blood:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:99696160..99700887-chr7:99753963..99757907,5	K562	blood:
2	chr7:99695452..99699124-chr7:100025277..100027831,3	MCF-7	breast:
3	chr7:99696160..99699295-chr7:99753963..99757907,4	K562	blood:
4	chr7:99645952..99651427-chr7:99695296..99699701,5	K562	blood:
5	chr7:99696789..99700792-chr7:100024893..100031468,10	K562	blood:
6	chr7:99645798..99648883-chr7:99696634..99699359,3	MCF-7	breast:
7	chr7:99516652..99519879-chr7:99696878..99699951,3	MCF-7	breast:
8	chr7:99646207..99647783-chr7:99696961..99699503,2	MCF-7	breast:
9	chr7:99696898..99700086-chr7:99750657..99754674,4	MCF-7	breast:
10	chr7:99061682..99064704-chr7:99696557..99699487,3	K562	blood:
11	chr7:99696142..99700081-chr7:99754300..99760427,7	MCF-7	breast:
12	chr17:56734803..56736757-chr7:99696174..99697894,2	MCF-7	breast:

No data

Variant related genes	Relation type
AP4M1	TF binding region
MCM7	TF binding region
ENSG00000146833	Chromatin interaction
ENSG00000078487	Chromatin interaction
ENSG00000146834	Chromatin interaction
ENSG00000202077	Chromatin interaction
ENSG00000241468	Chromatin interaction
ENSG00000248919	Chromatin interaction
ENSG00000266154	Chromatin interaction
ENSG00000188186	Chromatin interaction
ENSG00000146826	Chromatin interaction
ENSG00000106246	Chromatin interaction
ENSG00000166529	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10260215	1.00[MEX][hapmap]
rs11540426	1.00[LWK][hapmap]
rs11764527	1.00[MEX][hapmap]
rs2293483	1.00[LWK][hapmap]
rs2307345	1.00[LWK][hapmap]
rs4134910	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1829865	chr7:99430678-99755141	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1131 gene(s)	inside rSNPs	diseases
2	esv1830649	chr7:99430678-99755141	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1131 gene(s)	inside rSNPs	diseases
3	nsv534298	chr7:99478011-99886076	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1132 gene(s)	inside rSNPs	diseases
4	nsv469687	chr7:99572543-99755141	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1115 gene(s)	inside rSNPs	diseases
5	nsv482601	chr7:99572543-99755141	Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1115 gene(s)	inside rSNPs	diseases
6	nsv607931	chr7:99664817-99796146	Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1097 gene(s)	inside rSNPs	diseases
7	esv1798486	chr7:99689883-99930879	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers 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	1085 gene(s)	inside rSNPs	diseases
8	esv1833059	chr7:99689883-99930879	Flanking Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1085 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99687400-99697200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:99688000-99697000	Strong transcription	HUES6 Cell Line	embryonic stem cell
3	chr7:99688000-99697000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr7:99688000-99697000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr7:99688000-99697000	Strong transcription	A549	lung
6	chr7:99688000-99697000	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr7:99688000-99697200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
8	chr7:99688000-99697200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr7:99688000-99697200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr7:99688000-99697200	Strong transcription	Brain Anterior Caudate	brain
11	chr7:99688000-99697200	Strong transcription	Brain Hippocampus Middle	brain
12	chr7:99688000-99697200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr7:99688000-99697200	Strong transcription	Left Ventricle	heart
14	chr7:99688000-99697200	Strong transcription	Ovary	ovary
15	chr7:99688000-99697200	Strong transcription	NHEK	skin
16	chr7:99688200-99697000	Strong transcription	Brain Cingulate Gyrus	brain
17	chr7:99688200-99697200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
18	chr7:99688200-99697200	Strong transcription	Brain Substantia Nigra	brain
19	chr7:99688200-99697400	Strong transcription	Sigmoid Colon	Sigmoid Colon
20	chr7:99688600-99697400	Strong transcription	Aorta	Aorta
21	chr7:99689000-99697200	Strong transcription	HMEC	breast
22	chr7:99689000-99697200	Strong transcription	Osteobl	bone
23	chr7:99689200-99697000	Strong transcription	NHDF-Ad	bronchial
24	chr7:99689200-99697200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr7:99689400-99697000	Strong transcription	Muscle Satellite Cultured Cells	--
26	chr7:99689400-99697200	Weak transcription	Right Atrium	heart
27	chr7:99691600-99697000	Strong transcription	Brain Inferior Temporal Lobe	brain
28	chr7:99691600-99697000	Strong transcription	Rectal Smooth Muscle	rectum
29	chr7:99691800-99697200	Strong transcription	NHLF	lung
30	chr7:99692000-99697000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr7:99692000-99697000	Strong transcription	Right Ventricle	heart
32	chr7:99692000-99697000	Strong transcription	Skeletal Muscle Male	skeletal muscle
33	chr7:99692200-99697000	Strong transcription	Adipose Nuclei	Adipose
34	chr7:99693400-99697600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr7:99694800-99697000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr7:99694800-99697800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr7:99695000-99697600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr7:99695200-99697200	Genic enhancers	Primary T helper cells PMA-I stimulated	--
39	chr7:99695200-99697800	Transcr. at gene 5' and 3'	Hela-S3	cervix
40	chr7:99695400-99697200	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr7:99695400-99697200	Genic enhancers	Pancreas	Pancrea
42	chr7:99695600-99697200	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr7:99695600-99697400	Transcr. at gene 5' and 3'	Brain Germinal Matrix	brain
44	chr7:99695600-99697600	Transcr. at gene 5' and 3'	Fetal Brain Female	brain
45	chr7:99695800-99697000	Genic enhancers	Primary T cells from cord blood	blood
46	chr7:99695800-99697000	Genic enhancers	GM12878-XiMat	blood
47	chr7:99695800-99697200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr7:99696000-99697200	Genic enhancers	Primary T helper cells fromperipheralblood	blood
49	chr7:99696000-99697200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr7:99696000-99697200	Genic enhancers	Spleen	Spleen

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