Variant report

Variant	rs2979243
Chromosome Location	chr8:8935247-8935248
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:8932505..8934408-chr8:8934754..8936644,3	MCF-7	breast:
2	chr8:8935123..8936678-chr8:8962823..8964352,2	MCF-7	breast:
3	chr8:8935014..8937829-chr8:9004036..9006793,2	MCF-7	breast:
4	chr8:8929863..8933165-chr8:8933617..8936213,3	MCF-7	breast:
5	chr8:8935137..8938110-chr8:8938203..8940506,3	MCF-7	breast:
6	chr8:8931416..8936474-chr8:8938271..8941320,7	K562	blood:
7	chr8:8934965..8937761-chr8:8946475..8949446,3	MCF-7	breast:
8	chr8:8932433..8935466-chr8:8936336..8937882,3	K562	blood:

Variant related genes	Relation type
ENSG00000239078	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10503389	0.86[LWK][hapmap];0.89[MKK][hapmap]
rs17646897	0.90[YRI][hapmap]
rs17703328	0.84[AFR][1000 genomes]
rs36022127	0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890331	chr8:8093240-8971100	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats 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 miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv917117	chr8:8621658-9313799	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv1022468	chr8:8857853-9209167	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv539460	chr8:8857853-9209167	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv817373	chr8:8857854-9361049	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8924000-8936200	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr8:8924000-8937800	Weak transcription	Lung	lung
3	chr8:8924000-8939600	Weak transcription	Right Ventricle	heart
4	chr8:8929600-8940000	Weak transcription	Aorta	Aorta
5	chr8:8930200-8940400	Enhancers	Fetal Intestine Large	intestine
6	chr8:8930800-8935800	Enhancers	HUVEC	blood vessel
7	chr8:8930800-8936400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr8:8931600-8938000	Enhancers	Placenta	Placenta
9	chr8:8931800-8940800	Enhancers	Fetal Intestine Small	intestine
10	chr8:8932000-8935400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr8:8932000-8937800	Enhancers	Fetal Heart	heart
12	chr8:8932600-8937200	Weak transcription	Gastric	stomach
13	chr8:8932600-8937400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr8:8932600-8939600	Weak transcription	Ovary	ovary
15	chr8:8932600-8951800	Weak transcription	Pancreas	Pancrea
16	chr8:8932800-8936200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr8:8932800-8939200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr8:8932800-8945600	Weak transcription	Thymus	Thymus
19	chr8:8933000-8935600	Enhancers	NHDF-Ad	bronchial
20	chr8:8933000-8936000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr8:8933000-8936200	Weak transcription	Duodenum Mucosa	Duodenum
22	chr8:8933000-8936400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr8:8933000-8937800	Weak transcription	Liver	Liver
24	chr8:8933000-8937800	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr8:8933000-8939400	Enhancers	K562	blood
26	chr8:8933200-8935400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr8:8933200-8935400	Enhancers	NH-A	brain
28	chr8:8933200-8935400	Enhancers	Osteobl	bone
29	chr8:8933200-8935600	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr8:8933200-8935800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr8:8933200-8935800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr8:8933200-8935800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr8:8933200-8935800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr8:8933200-8936200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr8:8933200-8936600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr8:8933200-8936800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr8:8933200-8937000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr8:8933200-8937000	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr8:8933200-8937000	Enhancers	Hela-S3	cervix
40	chr8:8933200-8937800	Enhancers	A549	lung
41	chr8:8933200-8938000	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr8:8933200-8938000	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr8:8933200-8938200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr8:8933200-8938200	Weak transcription	Colon Smooth Muscle	Colon
45	chr8:8933200-8938800	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr8:8933200-8939400	Weak transcription	Fetal Lung	lung
47	chr8:8933200-8939600	Weak transcription	Rectal Smooth Muscle	rectum
48	chr8:8933400-8935600	Enhancers	Psoas Muscle	Psoas
49	chr8:8933400-8936200	Weak transcription	HMEC	breast
50	chr8:8933400-8938000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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