Variant report

Variant	rs73996106
Chromosome Location	chr2:234449161-234449162
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:234436512..234439246-chr2:234448487..234450913,2	MCF-7	breast:
2	chr2:234448748..234450538-chr2:234553700..234555671,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs28948380	1.00[AMR][1000 genomes]
rs28966994	1.00[AMR][1000 genomes]
rs28968501	1.00[AMR][1000 genomes]
rs28968511	1.00[AMR][1000 genomes]
rs28968512	1.00[AMR][1000 genomes]
rs28968514	1.00[AMR][1000 genomes]
rs59123908	1.00[AMR][1000 genomes]
rs61158161	1.00[AMR][1000 genomes]
rs6431482	1.00[AMR][1000 genomes]
rs73996128	1.00[AMR][1000 genomes]
rs73996129	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73997634	1.00[AMR][1000 genomes]
rs73997635	1.00[AMR][1000 genomes]
rs73997639	1.00[AMR][1000 genomes]
rs73997640	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529419	chr2:234229606-234670426	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv876013	chr2:234338227-234579915	Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv428072	chr2:234393609-234624769	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234387400-234466000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr2:234398000-234452800	Weak transcription	HUVEC	blood vessel
3	chr2:234402200-234472400	Weak transcription	Psoas Muscle	Psoas
4	chr2:234402600-234454000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr2:234404400-234455000	Weak transcription	Fetal Thymus	thymus
6	chr2:234411600-234465600	Weak transcription	Thymus	Thymus
7	chr2:234413000-234474200	Weak transcription	Fetal Heart	heart
8	chr2:234414000-234461800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr2:234423200-234473400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr2:234426200-234474000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr2:234426400-234453600	Weak transcription	NH-A	brain
12	chr2:234427000-234466200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr2:234427400-234463800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr2:234428800-234474400	Weak transcription	Brain Germinal Matrix	brain
15	chr2:234430200-234473800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr2:234430400-234453800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr2:234430800-234472800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr2:234431600-234452200	Weak transcription	Primary B cells from peripheral blood	blood
19	chr2:234432000-234467600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr2:234432200-234452000	Weak transcription	Small Intestine	intestine
21	chr2:234432200-234453000	Weak transcription	Fetal Lung	lung
22	chr2:234432200-234454000	Weak transcription	Primary hematopoietic stem cells	blood
23	chr2:234432200-234474800	Weak transcription	Spleen	Spleen
24	chr2:234432600-234474400	Weak transcription	Colonic Mucosa	Colon
25	chr2:234432800-234453600	Weak transcription	Brain Cingulate Gyrus	brain
26	chr2:234433000-234462600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr2:234434600-234454000	Weak transcription	Brain Substantia Nigra	brain
28	chr2:234434600-234466200	Weak transcription	Right Ventricle	heart
29	chr2:234437200-234474400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr2:234437800-234453800	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr2:234438000-234459800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr2:234440200-234458200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr2:234440400-234450400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr2:234440800-234465600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr2:234441200-234453800	Weak transcription	Brain Angular Gyrus	brain
36	chr2:234441200-234454400	Weak transcription	Brain Anterior Caudate	brain
37	chr2:234441200-234460400	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr2:234441400-234451000	Weak transcription	NHLF	lung
39	chr2:234441400-234453400	Weak transcription	Left Ventricle	heart
40	chr2:234441400-234453400	Weak transcription	HSMMtube	muscle
41	chr2:234441400-234454000	Weak transcription	Brain Hippocampus Middle	brain
42	chr2:234441600-234449800	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr2:234441600-234452400	Weak transcription	Rectal Smooth Muscle	rectum
44	chr2:234441600-234452600	Weak transcription	Colon Smooth Muscle	Colon
45	chr2:234441600-234454400	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr2:234441600-234465800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr2:234441600-234466200	Weak transcription	Esophagus	oesophagus
48	chr2:234441600-234474800	Weak transcription	Gastric	stomach
49	chr2:234441800-234449200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr2:234441800-234449200	Weak transcription	Dnd41	blood

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