Variant report

Variant	rs7607946
Chromosome Location	chr2:55258377-55258378
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:55255815..55260220-chr2:55273453..55278520,8	MCF-7	breast:
2	chr2:55255186..55258524-chr2:55346221..55348339,3	K562	blood:
3	chr2:55252582..55260799-chr2:55274165..55279100,17	MCF-7	breast:
4	chr2:55257553..55263983-chr2:55266645..55270936,7	K562	blood:
5	chr2:55255745..55260236-chr2:55263069..55266549,5	K562	blood:
6	chr2:55258298..55260902-chr2:55265959..55268145,3	MCF-7	breast:
7	chr2:55257154..55258943-chr2:55260166..55262885,2	K562	blood:

Variant related genes	Relation type
ENSG00000115310	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs15029	1.00[EUR][1000 genomes]
rs17046509	1.00[EUR][1000 genomes]
rs17046510	1.00[EUR][1000 genomes]
rs1992615	0.89[YRI][hapmap];0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4254542	1.00[EUR][1000 genomes]
rs57207110	1.00[EUR][1000 genomes]
rs6718315	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6729675	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6747990	1.00[EUR][1000 genomes]
rs72910826	1.00[EUR][1000 genomes]
rs72910837	1.00[EUR][1000 genomes]
rs72910854	1.00[EUR][1000 genomes]
rs7559999	1.00[EUR][1000 genomes]
rs7571562	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7576504	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7584654	1.00[EUR][1000 genomes]
rs7585495	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874155	chr2:55205262-55307646	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55203800-55258400	Weak transcription	Esophagus	oesophagus
2	chr2:55237600-55258600	Weak transcription	Ovary	ovary
3	chr2:55237600-55272600	Weak transcription	Fetal Stomach	stomach
4	chr2:55241000-55272400	Weak transcription	Fetal Kidney	kidney
5	chr2:55243000-55262400	Weak transcription	Hela-S3	cervix
6	chr2:55243800-55259800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:55245600-55265600	Weak transcription	Stomach Mucosa	stomach
8	chr2:55246800-55259800	Weak transcription	NH-A	brain
9	chr2:55248200-55258400	Weak transcription	Lung	lung
10	chr2:55248200-55259200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr2:55250000-55260000	Weak transcription	Gastric	stomach
12	chr2:55250400-55271000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr2:55250400-55274000	Weak transcription	Pancreas	Pancrea
14	chr2:55250600-55258400	Weak transcription	Spleen	Spleen
15	chr2:55251400-55259400	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr2:55252400-55259000	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr2:55252600-55258400	Weak transcription	Fetal Muscle Leg	muscle
18	chr2:55252600-55261400	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr2:55253400-55273000	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr2:55253600-55258400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr2:55253800-55260400	Weak transcription	Duodenum Mucosa	Duodenum
22	chr2:55253800-55260600	Weak transcription	Right Atrium	heart
23	chr2:55253800-55261400	Weak transcription	Fetal Muscle Trunk	muscle
24	chr2:55254200-55269800	Weak transcription	Aorta	Aorta
25	chr2:55254200-55270400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr2:55254400-55262600	Enhancers	Brain Hippocampus Middle	brain
27	chr2:55254600-55258400	Weak transcription	Primary B cells from peripheral blood	blood
28	chr2:55254600-55258400	Weak transcription	Primary hematopoietic stem cells	blood
29	chr2:55254600-55258400	Weak transcription	Psoas Muscle	Psoas
30	chr2:55254600-55258800	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr2:55254600-55259800	Weak transcription	Primary B cells from cord blood	blood
32	chr2:55254600-55259800	Weak transcription	Thymus	Thymus
33	chr2:55254600-55260000	Weak transcription	Fetal Thymus	thymus
34	chr2:55254600-55260600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr2:55254800-55260000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr2:55254800-55260400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr2:55254800-55265000	Enhancers	Brain Substantia Nigra	brain
38	chr2:55255000-55259400	Enhancers	Muscle Satellite Cultured Cells	--
39	chr2:55255000-55260600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr2:55255200-55261200	Weak transcription	HUVEC	blood vessel
41	chr2:55255400-55258600	Weak transcription	Small Intestine	intestine
42	chr2:55255400-55259800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr2:55255400-55259800	Weak transcription	Dnd41	blood
44	chr2:55255400-55260000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr2:55255400-55260400	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr2:55255400-55272600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr2:55255400-55272600	Weak transcription	Fetal Intestine Small	intestine
48	chr2:55255600-55258400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr2:55256000-55260200	Weak transcription	Primary T cells from cord blood	blood
50	chr2:55256000-55260200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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