Variant report

Variant	rs17012711
Chromosome Location	chr2:33493898-33493899
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:33171933..33174048-chr2:33491328..33494220,2	MCF-7	breast:
2	chr2:33489408..33492344-chr2:33493804..33495896,3	MCF-7	breast:
3	chr2:33491437..33494514-chr2:33496533..33499773,3	K562	blood:

Variant related genes	Relation type
ENSG00000049323	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs17012722	0.83[YRI][hapmap]
rs17012731	0.83[YRI][hapmap]
rs17012736	0.83[YRI][hapmap]
rs17012740	0.83[YRI][hapmap]
rs17012759	1.00[YRI][hapmap]
rs17012889	1.00[CEU][hapmap]
rs6716764	1.00[AFR][1000 genomes]
rs7583097	0.88[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	nsv998167	chr2:33074313-33541100	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv535623	chr2:33074313-33541100	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1005435	chr2:33136117-33747159	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
4	nsv535624	chr2:33136117-33747159	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
5	nsv873791	chr2:33489975-33586776	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 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	chr2:33466400-33497400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:33466600-33500800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:33472000-33516600	Weak transcription	Psoas Muscle	Psoas
4	chr2:33487000-33509800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr2:33487800-33502400	Weak transcription	Brain Anterior Caudate	brain
6	chr2:33490000-33499400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr2:33490600-33515600	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr2:33491200-33495800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:33491800-33502000	Weak transcription	Brain Angular Gyrus	brain
10	chr2:33491800-33504400	Weak transcription	Colonic Mucosa	Colon
11	chr2:33492000-33494000	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr2:33492000-33495800	Weak transcription	A549	lung
13	chr2:33492000-33515800	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr2:33492200-33501000	Weak transcription	Placenta	Placenta
15	chr2:33492200-33516600	Weak transcription	Brain Hippocampus Middle	brain
16	chr2:33492200-33516600	Weak transcription	Brain Substantia Nigra	brain
17	chr2:33492400-33494200	Enhancers	Fetal Heart	heart
18	chr2:33492400-33497200	Weak transcription	Right Ventricle	heart
19	chr2:33492400-33499400	Weak transcription	Liver	Liver
20	chr2:33492400-33499600	Weak transcription	Left Ventricle	heart
21	chr2:33492400-33500000	Weak transcription	Fetal Stomach	stomach
22	chr2:33492400-33500800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:33492400-33500800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr2:33492400-33500800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr2:33492400-33500800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr2:33492400-33500800	Weak transcription	Esophagus	oesophagus
27	chr2:33492400-33500800	Weak transcription	Pancreas	Pancrea
28	chr2:33492400-33501000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr2:33492400-33501800	Weak transcription	Lung	lung
30	chr2:33492400-33502000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr2:33492400-33502000	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr2:33492400-33502000	Weak transcription	Spleen	Spleen
33	chr2:33492400-33547400	Weak transcription	Fetal Intestine Small	intestine
34	chr2:33492600-33494000	Genic enhancers	Muscle Satellite Cultured Cells	--
35	chr2:33492600-33494000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr2:33492600-33494000	Enhancers	HUVEC	blood vessel
37	chr2:33492600-33494200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr2:33492600-33494600	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr2:33492600-33495400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr2:33492600-33499200	Weak transcription	NHLF	lung
41	chr2:33492600-33499800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr2:33492600-33499800	Weak transcription	Fetal Muscle Trunk	muscle
43	chr2:33492600-33500800	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr2:33492600-33502000	Weak transcription	Ovary	ovary
45	chr2:33492600-33508400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr2:33493000-33494400	Weak transcription	Aorta	Aorta
47	chr2:33493200-33494200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr2:33493400-33494400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr2:33493400-33494800	Enhancers	NHDF-Ad	bronchial
50	chr2:33493400-33496000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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