Variant report

Variant	rs587642053
Chromosome Location	chr2:172834007-172834008
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:172823483..172825325-chr2:172830958..172835156,3	K562	blood:
2	chr2:172829487..172831818-chr2:172832495..172834513,2	MCF-7	breast:
3	chr2:172816856..172818552-chr2:172833224..172835365,2	K562	blood:

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

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875410	chr2:172693780-172896587	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv875411	chr2:172693780-172942448	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	esv2830399	chr2:172781830-172952526	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv436276	chr2:172831435-172841517	Strong transcription Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	esv3458695	chr2:172832445-172841110	Strong transcription Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	esv3458694	chr2:172832493-172841085	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv3458693	chr2:172832508-172841056	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	esv3458697	chr2:172832579-172841009	Strong transcription Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	esv12560	chr2:172832837-172840816	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172780200-172840400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:172780400-172848800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr2:172780600-172847400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr2:172780600-172854200	Weak transcription	Small Intestine	intestine
5	chr2:172783600-172851000	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr2:172796000-172855200	Weak transcription	Gastric	stomach
7	chr2:172807400-172845400	Weak transcription	Spleen	Spleen
8	chr2:172808000-172847200	Weak transcription	Fetal Brain Female	brain
9	chr2:172808000-172849400	Weak transcription	Rectal Smooth Muscle	rectum
10	chr2:172809800-172837800	Weak transcription	Esophagus	oesophagus
11	chr2:172810000-172862600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr2:172811400-172846200	Weak transcription	Brain Substantia Nigra	brain
13	chr2:172811800-172852200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr2:172811800-172855600	Weak transcription	Fetal Heart	heart
15	chr2:172812400-172845200	Weak transcription	Colonic Mucosa	Colon
16	chr2:172813000-172859200	Weak transcription	Fetal Brain Male	brain
17	chr2:172814000-172844400	Weak transcription	Pancreas	Pancrea
18	chr2:172815200-172835800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr2:172815400-172850000	Weak transcription	HSMMtube	muscle
20	chr2:172816800-172844200	Weak transcription	NHLF	lung
21	chr2:172817800-172845200	Weak transcription	Psoas Muscle	Psoas
22	chr2:172821000-172838600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr2:172821000-172862800	Weak transcription	Brain Angular Gyrus	brain
24	chr2:172821400-172835000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr2:172822000-172835800	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr2:172822800-172835000	Strong transcription	Dnd41	blood
27	chr2:172823000-172835400	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr2:172823000-172850400	Weak transcription	Right Ventricle	heart
29	chr2:172823200-172835800	Weak transcription	Brain Germinal Matrix	brain
30	chr2:172823200-172843600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr2:172823800-172839800	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr2:172823800-172842600	Weak transcription	Brain Cingulate Gyrus	brain
33	chr2:172823800-172843800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr2:172823800-172844000	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr2:172823800-172851200	Weak transcription	Fetal Kidney	kidney
36	chr2:172824000-172836800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr2:172824000-172841000	Weak transcription	Duodenum Mucosa	Duodenum
38	chr2:172824000-172841200	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr2:172824000-172842600	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr2:172824000-172857800	Weak transcription	Brain Anterior Caudate	brain
41	chr2:172824000-172857800	Weak transcription	Brain Hippocampus Middle	brain
42	chr2:172824200-172838400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr2:172824200-172850000	Weak transcription	NHDF-Ad	bronchial
44	chr2:172824200-172850400	Weak transcription	HMEC	breast
45	chr2:172824400-172836800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr2:172824400-172843800	Weak transcription	NHEK	skin
47	chr2:172824400-172847200	Weak transcription	NH-A	brain
48	chr2:172824600-172837800	Weak transcription	HSMM	muscle
49	chr2:172825000-172835400	Weak transcription	Fetal Lung	lung
50	chr2:172825400-172837200	Weak transcription	Duodenum Smooth Muscle	Duodenum

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