Variant report

Variant	rs12705795
Chromosome Location	chr7:111368491-111368492
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:111366409..111367948-chr7:111368490..111371269,2	K562	blood:
2	chr7:111366447..111368624-chr7:111371924..111374736,3	K562	blood:
3	chr7:111366774..111368624-chr7:111371924..111373603,2	K562	blood:

Variant related genes	Relation type
ENSG00000128512	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2001224	1.00[MEX][hapmap]
rs2529490	1.00[MEX][hapmap]

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	esv2764041	chr7:110918713-111395390	Genic enhancers Weak transcription Active TSS ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv608196	chr7:111073710-111794368	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv932103	chr7:111092431-111412049	Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv869375	chr7:111105151-111470811	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv608215	chr7:111183610-111533520	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv1021527	chr7:111194596-111851619	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv539086	chr7:111194596-111851619	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv1028740	chr7:111227747-111679401	Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv1015267	chr7:111303294-111714771	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv539087	chr7:111303294-111714771	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	nsv539088	chr7:111333899-111722341	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
12	nsv531435	chr7:111333900-111926292	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
13	nsv491934	chr7:111333900-111975504	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
14	nsv1034375	chr7:111337109-111459099	Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:111359800-111371800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:111362600-111370000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:111362600-111372400	Weak transcription	Brain Angular Gyrus	brain
4	chr7:111363000-111418000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr7:111363400-111372800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr7:111364000-111369800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr7:111364200-111372000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:111364200-111378800	Weak transcription	HepG2	liver
9	chr7:111364400-111368600	Weak transcription	Fetal Muscle Leg	muscle
10	chr7:111364400-111371400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr7:111364400-111376400	Weak transcription	Right Atrium	heart
12	chr7:111365800-111372000	Weak transcription	Brain Cingulate Gyrus	brain
13	chr7:111365800-111375600	Weak transcription	Osteobl	bone
14	chr7:111366400-111370400	Weak transcription	Stomach Smooth Muscle	stomach
15	chr7:111366400-111376400	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr7:111366600-111376400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr7:111366600-111383000	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr7:111366800-111371800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr7:111366800-111371800	Weak transcription	Psoas Muscle	Psoas
20	chr7:111366800-111384200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr7:111366800-111394200	Weak transcription	Gastric	stomach
22	chr7:111367000-111368600	Weak transcription	Brain Substantia Nigra	brain
23	chr7:111367000-111368600	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr7:111367000-111371000	Weak transcription	NHEK	skin
25	chr7:111367000-111372800	Weak transcription	Right Ventricle	heart
26	chr7:111367000-111375400	Weak transcription	Colon Smooth Muscle	Colon
27	chr7:111367200-111369800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr7:111367200-111371200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr7:111367400-111369400	Strong transcription	Brain Hippocampus Middle	brain
30	chr7:111367400-111375200	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr7:111367400-111376000	Strong transcription	HUVEC	blood vessel
32	chr7:111367400-111401600	Weak transcription	Colonic Mucosa	Colon
33	chr7:111367600-111369600	Strong transcription	Liver	Liver
34	chr7:111367600-111369800	Strong transcription	Adipose Nuclei	Adipose
35	chr7:111367600-111375000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr7:111367600-111375200	Strong transcription	Brain Anterior Caudate	brain
37	chr7:111367800-111369200	Strong transcription	Brain Inferior Temporal Lobe	brain
38	chr7:111367800-111369400	Strong transcription	Cortex derived primary cultured neurospheres	brain
39	chr7:111367800-111369800	Strong transcription	Ovary	ovary
40	chr7:111368000-111378400	Weak transcription	Fetal Muscle Trunk	muscle
41	chr7:111368200-111368800	Strong transcription	H1 Cell Line	embryonic stem cell
42	chr7:111368200-111368800	Active TSS	HUES6 Cell Line	embryonic stem cell
43	chr7:111368200-111369000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr7:111368200-111369000	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
45	chr7:111368200-111369000	Transcr. at gene 5' and 3'	Fetal Brain Female	brain
46	chr7:111368200-111369200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr7:111368200-111369400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr7:111368200-111369400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr7:111368200-111374800	Strong transcription	Fetal Lung	lung
50	chr7:111368200-111375400	Strong transcription	Lung	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links