Variant report

Variant	rs56952246
Chromosome Location	chr7:50506673-50506674
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	chr7:50506044..50507753-chr7:50511426..50513777,3	K562	blood:
2	chr7:50505120..50506790-chr7:50508425..50510796,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1902537	1.00[AMR][1000 genomes]
rs58001711	1.00[AMR][1000 genomes]
rs60571984	1.00[AMR][1000 genomes]
rs60650106	1.00[AMR][1000 genomes]
rs61133198	1.00[AMR][1000 genomes]
rs61732861	1.00[AMR][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	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 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	chr7:50486200-50513200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr7:50495200-50513000	Weak transcription	Duodenum Mucosa	Duodenum
3	chr7:50495200-50517200	Weak transcription	Stomach Mucosa	stomach
4	chr7:50495600-50513800	Weak transcription	HepG2	liver
5	chr7:50496000-50513000	Weak transcription	Gastric	stomach
6	chr7:50496200-50517600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr7:50498000-50506800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr7:50499400-50513000	Weak transcription	Psoas Muscle	Psoas
9	chr7:50500000-50513400	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr7:50500600-50513000	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr7:50501000-50517400	Weak transcription	Esophagus	oesophagus
12	chr7:50502200-50513600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:50502400-50517200	Weak transcription	Small Intestine	intestine
14	chr7:50503000-50513000	Weak transcription	Spleen	Spleen
15	chr7:50503400-50507400	Weak transcription	Stomach Smooth Muscle	stomach
16	chr7:50503600-50512800	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr7:50503800-50511600	Weak transcription	K562	blood
18	chr7:50503800-50512400	Weak transcription	Placenta	Placenta
19	chr7:50504200-50508400	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr7:50504200-50511400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr7:50504200-50513200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr7:50504200-50513800	Weak transcription	NH-A	brain
23	chr7:50504400-50509600	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr7:50504400-50511000	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr7:50504400-50513000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr7:50504400-50513000	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr7:50504600-50510000	Strong transcription	Primary T cells from cord blood	blood
28	chr7:50504600-50511800	Strong transcription	Fetal Thymus	thymus
29	chr7:50504600-50513000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr7:50504600-50513000	Weak transcription	Brain Substantia Nigra	brain
31	chr7:50504600-50513000	Strong transcription	Dnd41	blood
32	chr7:50504600-50513200	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr7:50504600-50513400	Weak transcription	Brain Angular Gyrus	brain
34	chr7:50504600-50513800	Weak transcription	Rectal Smooth Muscle	rectum
35	chr7:50504600-50515000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr7:50504600-50517200	Weak transcription	Pancreas	Pancrea
37	chr7:50504800-50509400	Strong transcription	Fetal Intestine Small	intestine
38	chr7:50504800-50513000	Weak transcription	Hela-S3	cervix
39	chr7:50504800-50513000	Weak transcription	NHLF	lung
40	chr7:50504800-50513000	Weak transcription	Osteobl	bone
41	chr7:50504800-50513200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr7:50504800-50513200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr7:50504800-50513400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr7:50504800-50516000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr7:50504800-50516800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr7:50504800-50517400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr7:50505000-50507000	Strong transcription	A549	lung
48	chr7:50505000-50511000	Weak transcription	NHDF-Ad	bronchial
49	chr7:50505000-50513000	Weak transcription	Left Ventricle	heart
50	chr7:50505000-50513400	Weak transcription	Muscle Satellite Cultured Cells	--

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