Variant report

Variant	rs530815115
Chromosome Location	chr2:11322210-11322211
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:11320061..11322680-chr2:11374614..11376239,2	K562	blood:
2	chr2:11318764..11322835-chr2:11322965..11327075,5	MCF-7	breast:
3	chr2:11314637..11317626-chr2:11321207..11322858,2	K562	blood:
4	chr2:11319819..11321726-chr2:11321735..11323354,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000134318	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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	nsv1012083	chr2:11316299-11350604	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
2	esv3395022	chr2:11316915-11426380	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv1013570	chr2:11321519-11405246	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11296200-11329400	Weak transcription	Gastric	stomach
2	chr2:11296200-11412600	Weak transcription	Aorta	Aorta
3	chr2:11296800-11379800	Weak transcription	Small Intestine	intestine
4	chr2:11297600-11394400	Weak transcription	Right Ventricle	heart
5	chr2:11299200-11357000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:11301400-11330400	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr2:11301800-11324600	Weak transcription	Primary B cells from cord blood	blood
8	chr2:11302400-11326200	Weak transcription	Fetal Muscle Trunk	muscle
9	chr2:11302400-11335600	Weak transcription	Lung	lung
10	chr2:11304400-11325200	Weak transcription	Stomach Smooth Muscle	stomach
11	chr2:11304400-11326400	Weak transcription	Colon Smooth Muscle	Colon
12	chr2:11304400-11329200	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr2:11309800-11327200	Weak transcription	K562	blood
14	chr2:11309800-11335600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr2:11310000-11337200	Weak transcription	Ovary	ovary
16	chr2:11310600-11433000	Weak transcription	Pancreas	Pancrea
17	chr2:11314600-11329600	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr2:11314600-11332200	Weak transcription	Colonic Mucosa	Colon
19	chr2:11314600-11364200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr2:11315800-11322800	Weak transcription	Fetal Thymus	thymus
21	chr2:11315800-11326400	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr2:11315800-11327400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr2:11315800-11329200	Weak transcription	Primary B cells from peripheral blood	blood
24	chr2:11315800-11335200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr2:11315800-11336200	Weak transcription	Brain Anterior Caudate	brain
26	chr2:11315800-11336400	Weak transcription	GM12878-XiMat	blood
27	chr2:11315800-11336600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr2:11315800-11339000	Weak transcription	Spleen	Spleen
29	chr2:11315800-11340400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr2:11315800-11367400	Weak transcription	Brain Cingulate Gyrus	brain
31	chr2:11316000-11326400	Weak transcription	HSMMtube	muscle
32	chr2:11316000-11331200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr2:11316000-11332200	Weak transcription	Psoas Muscle	Psoas
34	chr2:11316000-11338000	Weak transcription	Brain Substantia Nigra	brain
35	chr2:11316200-11325200	Weak transcription	HUVEC	blood vessel
36	chr2:11316200-11329000	Weak transcription	NHEK	skin
37	chr2:11316200-11331200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr2:11316200-11332600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr2:11316200-11333000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr2:11316200-11336200	Weak transcription	Thymus	Thymus
41	chr2:11316200-11344400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr2:11316200-11354200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr2:11316400-11327400	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr2:11316400-11351800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr2:11316600-11325200	Weak transcription	Primary hematopoietic stem cells	blood
46	chr2:11316600-11327200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr2:11316600-11329000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr2:11316600-11339000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr2:11317600-11323800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr2:11317800-11322400	Strong transcription	Fetal Muscle Leg	muscle

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