Variant report

Variant	rs12702700
Chromosome Location	chr7:8186842-8186843
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:8007937..8010292-chr7:8185663..8188126,2	MCF-7	breast:
2	chr7:8186750..8189345-chr7:8189714..8191287,2	MCF-7	breast:
3	chr7:8180060..8182913-chr7:8184730..8187077,2	K562	blood:

Variant related genes	Relation type
ENSG00000233108	Chromatin interaction
ENSG00000106415	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10224158	0.82[EUR][1000 genomes]
rs10274469	0.85[EUR][1000 genomes]
rs13311898	1.00[EUR][1000 genomes]
rs2058515	0.82[EUR][1000 genomes]
rs4141593	0.89[EUR][1000 genomes]
rs4720764	0.85[EUR][1000 genomes]
rs4720766	0.94[EUR][1000 genomes]
rs4725073	0.82[EUR][1000 genomes]
rs6463776	0.82[EUR][1000 genomes]
rs6971033	0.82[EUR][1000 genomes]
rs6975478	0.82[EUR][1000 genomes]
rs7788500	0.82[EUR][1000 genomes]
rs9640059	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917172	chr7:7854632-8807385	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv1020686	chr7:8095118-8311985	Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv538723	chr7:8095118-8311985	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv949024	chr7:8176301-8522495	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	nsv1031226	chr7:8176311-8569811	Bivalent Enhancer Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv538724	chr7:8176311-8569811	Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
7	nsv887492	chr7:8177689-8513927	Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
8	nsv1026247	chr7:8178837-8527868	Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
9	nsv464305	chr7:8179655-8524707	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
10	nsv606050	chr7:8179655-8524707	Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
11	nsv1020942	chr7:8179655-8524774	Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
12	nsv464307	chr7:8179846-8453313	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
13	nsv606051	chr7:8179846-8453313	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
14	nsv1034583	chr7:8180210-8527868	Bivalent Enhancer Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
15	nsv1030373	chr7:8184961-8527868	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:8150600-8200000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr7:8162400-8192800	Weak transcription	Colonic Mucosa	Colon
3	chr7:8167800-8192200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr7:8170000-8192000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr7:8172400-8187400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr7:8172400-8215800	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr7:8173000-8188400	Weak transcription	Primary B cells from cord blood	blood
8	chr7:8176200-8197000	Weak transcription	Stomach Mucosa	stomach
9	chr7:8176400-8200600	Weak transcription	K562	blood
10	chr7:8180200-8192200	Weak transcription	Psoas Muscle	Psoas
11	chr7:8181000-8190400	Weak transcription	Spleen	Spleen
12	chr7:8181000-8192200	Weak transcription	Lung	lung
13	chr7:8181200-8201200	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr7:8181400-8200000	Weak transcription	Fetal Intestine Small	intestine
15	chr7:8183400-8188600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr7:8183400-8188600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr7:8183400-8188600	Weak transcription	Fetal Kidney	kidney
18	chr7:8183400-8195000	Weak transcription	Duodenum Mucosa	Duodenum
19	chr7:8183600-8187400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr7:8183600-8188200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr7:8183600-8188400	Weak transcription	Primary B cells from peripheral blood	blood
22	chr7:8183600-8188400	Weak transcription	Primary hematopoietic stem cells	blood
23	chr7:8183600-8188400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr7:8183600-8192200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr7:8183600-8192200	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr7:8183600-8195000	Weak transcription	Gastric	stomach
27	chr7:8183600-8195400	Weak transcription	Fetal Intestine Large	intestine
28	chr7:8183800-8188400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr7:8183800-8188400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr7:8183800-8188600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr7:8183800-8188600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr7:8183800-8190400	Weak transcription	Stomach Smooth Muscle	stomach
33	chr7:8184000-8190600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
34	chr7:8184600-8188200	Enhancers	Brain Germinal Matrix	brain
35	chr7:8184600-8188400	Weak transcription	GM12878-XiMat	blood
36	chr7:8184600-8190800	Weak transcription	Ovary	ovary
37	chr7:8184800-8188200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr7:8185200-8188800	Weak transcription	HUVEC	blood vessel
39	chr7:8185200-8189000	Weak transcription	Liver	Liver
40	chr7:8185600-8187400	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr7:8185600-8187600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr7:8185600-8187800	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr7:8185600-8188000	Enhancers	Fetal Heart	heart
44	chr7:8185800-8187000	Enhancers	Brain Anterior Caudate	brain
45	chr7:8185800-8187600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr7:8185800-8187600	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr7:8185800-8188400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr7:8186000-8187200	Enhancers	Fetal Muscle Leg	muscle
49	chr7:8186000-8187800	Enhancers	H1 Cell Line	embryonic stem cell
50	chr7:8186000-8188000	Enhancers	Adipose Nuclei	Adipose

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