Variant report

Variant	rs9967748
Chromosome Location	chr2:231080560-231080561
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:231072082..231074333-chr2:231080031..231082815,2	MCF-7	breast:
2	chr2:231064805..231066676-chr2:231078094..231080853,2	MCF-7	breast:
3	chr2:231078945..231080759-chr2:231083081..231084932,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135899	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs6710297	0.82[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001562	chr2:230862717-231187043	Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv536156	chr2:230862717-231187043	Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv498047	chr2:230951712-231250489	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv869834	chr2:231045013-231139827	Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv998291	chr2:231045388-231136278	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv584666	chr2:231050715-231106621	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	esv18000	chr2:231072978-231467847	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:231059000-231082800	Weak transcription	Stomach Mucosa	stomach
2	chr2:231062200-231081600	Strong transcription	Liver	Liver
3	chr2:231062400-231081600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr2:231062600-231080600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr2:231062600-231081400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr2:231062600-231081400	Strong transcription	Adipose Nuclei	Adipose
7	chr2:231062600-231081400	Strong transcription	Duodenum Smooth Muscle	Duodenum
8	chr2:231062600-231081400	Strong transcription	Fetal Thymus	thymus
9	chr2:231062600-231081600	Strong transcription	Fetal Lung	lung
10	chr2:231062600-231081600	Strong transcription	Placenta	Placenta
11	chr2:231062600-231081600	Strong transcription	Rectal Mucosa Donor 29	rectum
12	chr2:231062600-231081600	Strong transcription	Skeletal Muscle Female	skeletal muscle
13	chr2:231062600-231081800	Strong transcription	Fetal Muscle Trunk	muscle
14	chr2:231062600-231082200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr2:231062600-231082400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr2:231062600-231084200	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr2:231062800-231080600	Strong transcription	Rectal Mucosa Donor 31	rectum
18	chr2:231062800-231081000	Strong transcription	Sigmoid Colon	Sigmoid Colon
19	chr2:231063000-231084000	Weak transcription	Hela-S3	cervix
20	chr2:231063200-231081200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr2:231063200-231084000	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr2:231063400-231082200	Strong transcription	Fetal Muscle Leg	muscle
23	chr2:231064800-231084000	Weak transcription	Fetal Heart	heart
24	chr2:231065000-231081000	Strong transcription	Fetal Intestine Large	intestine
25	chr2:231065000-231081400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr2:231066200-231083200	Weak transcription	HUVEC	blood vessel
27	chr2:231066200-231084400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr2:231066400-231081600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr2:231067000-231081400	Strong transcription	Duodenum Mucosa	Duodenum
30	chr2:231067200-231081600	Strong transcription	Left Ventricle	heart
31	chr2:231067600-231084200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr2:231068200-231082200	Strong transcription	Ovary	ovary
33	chr2:231068200-231084400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr2:231068400-231081800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr2:231068400-231084000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr2:231069400-231081600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr2:231070200-231081600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr2:231070800-231081600	Strong transcription	Lung	lung
39	chr2:231071800-231084200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr2:231072400-231081600	Strong transcription	Fetal Stomach	stomach
41	chr2:231073000-231080800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr2:231073200-231081600	Strong transcription	Right Ventricle	heart
43	chr2:231073600-231084000	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr2:231074200-231084000	Weak transcription	Fetal Kidney	kidney
45	chr2:231074400-231080600	Strong transcription	Muscle Satellite Cultured Cells	--
46	chr2:231074800-231081800	Strong transcription	Spleen	Spleen
47	chr2:231075200-231080600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr2:231075200-231080800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
49	chr2:231075200-231081000	Weak transcription	HMEC	breast
50	chr2:231075200-231081200	Strong transcription	Primary hematopoietic stem cells	blood

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