Variant report

Variant	rs17012822
Chromosome Location	chr2:33536845-33536846
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:33535893..33538848-chr2:33568377..33569947,2	MCF-7	breast:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11903420	1.00[EUR][1000 genomes]
rs13398513	1.00[EUR][1000 genomes]
rs13413448	1.00[EUR][1000 genomes]
rs13417676	1.00[EUR][1000 genomes]
rs17012818	1.00[AMR][1000 genomes]
rs17038525	0.88[YRI][hapmap];1.00[AMR][1000 genomes]
rs41470344	0.88[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72855711	1.00[EUR][1000 genomes]
rs7584658	1.00[EUR][1000 genomes]
rs9751897	1.00[AMR][1000 genomes]

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	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
6	nsv1012967	chr2:33533340-33638312	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	nsv535627	chr2:33533340-33638312	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33492400-33547400	Weak transcription	Fetal Intestine Small	intestine
2	chr2:33502600-33537000	Weak transcription	Fetal Intestine Large	intestine
3	chr2:33517200-33537400	Weak transcription	Fetal Brain Male	brain
4	chr2:33517200-33545000	Weak transcription	Fetal Kidney	kidney
5	chr2:33517200-33545800	Weak transcription	Fetal Lung	lung
6	chr2:33517200-33546400	Weak transcription	Brain Angular Gyrus	brain
7	chr2:33517800-33543400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr2:33523400-33545200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr2:33523600-33546200	Weak transcription	K562	blood
10	chr2:33523800-33550600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr2:33524200-33546600	Weak transcription	Small Intestine	intestine
12	chr2:33524600-33537600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:33525000-33537600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:33527600-33537800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr2:33527800-33540000	Weak transcription	Placenta	Placenta
16	chr2:33529000-33538400	Weak transcription	Aorta	Aorta
17	chr2:33529000-33538400	Weak transcription	Ovary	ovary
18	chr2:33529000-33541400	Weak transcription	Fetal Muscle Trunk	muscle
19	chr2:33529600-33546400	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr2:33529800-33537000	Weak transcription	Rectal Smooth Muscle	rectum
21	chr2:33529800-33538200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:33529800-33539000	Weak transcription	Fetal Stomach	stomach
23	chr2:33529800-33540200	Weak transcription	Left Ventricle	heart
24	chr2:33529800-33546600	Weak transcription	Psoas Muscle	Psoas
25	chr2:33529800-33561000	Weak transcription	HUVEC	blood vessel
26	chr2:33529800-33609400	Weak transcription	Right Ventricle	heart
27	chr2:33530000-33539400	Weak transcription	Fetal Heart	heart
28	chr2:33530000-33543000	Weak transcription	Colon Smooth Muscle	Colon
29	chr2:33530800-33538400	Weak transcription	Fetal Muscle Leg	muscle
30	chr2:33531000-33537000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr2:33531600-33538400	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr2:33531800-33540400	Weak transcription	Liver	Liver
33	chr2:33532200-33540000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr2:33533400-33539400	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr2:33533400-33542800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr2:33535600-33537000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr2:33535600-33544600	Weak transcription	NHLF	lung
38	chr2:33535800-33537200	Weak transcription	Stomach Smooth Muscle	stomach
39	chr2:33535800-33538400	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr2:33535800-33538400	Weak transcription	Osteobl	bone
41	chr2:33536400-33538400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr2:33536800-33537000	Enhancers	NHDF-Ad	bronchial
43	chr2:33536800-33538800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr2:33536800-33539800	Weak transcription	NH-A	brain

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