Variant report

Variant	rs17012722
Chromosome Location	chr2:33497888-33497889
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:33491437..33494514-chr2:33496533..33499773,3	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11894366	1.00[EUR][1000 genomes]
rs17012711	0.83[YRI][hapmap]
rs17012717	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17012719	0.83[YRI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17012726	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17012731	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17012736	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17012740	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17012759	1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs17012783	1.00[EUR][1000 genomes]
rs3769531	0.82[YRI][hapmap]
rs3769535	0.83[YRI][hapmap]
rs41329047	1.00[EUR][1000 genomes]
rs6716750	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6716764	0.83[YRI][hapmap]
rs73925691	1.00[EUR][1000 genomes]
rs7560761	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7599038	1.00[EUR][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:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33466600-33500800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:33472000-33516600	Weak transcription	Psoas Muscle	Psoas
3	chr2:33487000-33509800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr2:33487800-33502400	Weak transcription	Brain Anterior Caudate	brain
5	chr2:33490000-33499400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr2:33490600-33515600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr2:33491800-33502000	Weak transcription	Brain Angular Gyrus	brain
8	chr2:33491800-33504400	Weak transcription	Colonic Mucosa	Colon
9	chr2:33492000-33515800	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr2:33492200-33501000	Weak transcription	Placenta	Placenta
11	chr2:33492200-33516600	Weak transcription	Brain Hippocampus Middle	brain
12	chr2:33492200-33516600	Weak transcription	Brain Substantia Nigra	brain
13	chr2:33492400-33499400	Weak transcription	Liver	Liver
14	chr2:33492400-33499600	Weak transcription	Left Ventricle	heart
15	chr2:33492400-33500000	Weak transcription	Fetal Stomach	stomach
16	chr2:33492400-33500800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:33492400-33500800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr2:33492400-33500800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr2:33492400-33500800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr2:33492400-33500800	Weak transcription	Esophagus	oesophagus
21	chr2:33492400-33500800	Weak transcription	Pancreas	Pancrea
22	chr2:33492400-33501000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr2:33492400-33501800	Weak transcription	Lung	lung
24	chr2:33492400-33502000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr2:33492400-33502000	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr2:33492400-33502000	Weak transcription	Spleen	Spleen
27	chr2:33492400-33547400	Weak transcription	Fetal Intestine Small	intestine
28	chr2:33492600-33499200	Weak transcription	NHLF	lung
29	chr2:33492600-33499800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr2:33492600-33499800	Weak transcription	Fetal Muscle Trunk	muscle
31	chr2:33492600-33500800	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr2:33492600-33502000	Weak transcription	Ovary	ovary
33	chr2:33492600-33508400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr2:33493400-33502000	Weak transcription	Fetal Brain Male	brain
35	chr2:33493600-33515200	Weak transcription	Fetal Lung	lung
36	chr2:33493800-33499600	Weak transcription	Stomach Smooth Muscle	stomach
37	chr2:33493800-33503400	Weak transcription	Fetal Brain Female	brain
38	chr2:33493800-33515400	Weak transcription	Colon Smooth Muscle	Colon
39	chr2:33494000-33500200	Weak transcription	HUVEC	blood vessel
40	chr2:33494000-33502000	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr2:33494200-33506200	Weak transcription	Fetal Heart	heart
42	chr2:33494200-33516000	Weak transcription	Rectal Smooth Muscle	rectum
43	chr2:33494200-33516200	Weak transcription	Fetal Kidney	kidney
44	chr2:33494600-33515200	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr2:33494800-33499600	Weak transcription	Fetal Muscle Leg	muscle
46	chr2:33495400-33499600	Weak transcription	Aorta	Aorta
47	chr2:33495400-33499800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr2:33495600-33499000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
49	chr2:33496200-33500200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr2:33496200-33501000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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