Variant report

Variant	rs12621519
Chromosome Location	chr2:11342256-11342257
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:11337630..11339492-chr2:11341637..11343755,2	MCF-7	breast:
2	chr2:11334066..11335931-chr2:11342091..11344268,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000134318	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs10201229	1.00[JPT][hapmap]
rs12990641	1.00[JPT][hapmap]

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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11296200-11412600	Weak transcription	Aorta	Aorta
2	chr2:11296800-11379800	Weak transcription	Small Intestine	intestine
3	chr2:11297600-11394400	Weak transcription	Right Ventricle	heart
4	chr2:11299200-11357000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:11310600-11433000	Weak transcription	Pancreas	Pancrea
6	chr2:11314600-11364200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr2:11315800-11367400	Weak transcription	Brain Cingulate Gyrus	brain
8	chr2:11316200-11344400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr2:11316200-11354200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr2:11316400-11351800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr2:11318600-11359200	Weak transcription	Fetal Heart	heart
12	chr2:11319000-11364200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr2:11320800-11377000	Strong transcription	HepG2	liver
14	chr2:11326000-11356600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:11327200-11343400	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr2:11327600-11344400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr2:11327800-11344200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr2:11328000-11342600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr2:11328800-11342600	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr2:11328800-11367600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr2:11329000-11342600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr2:11329000-11343200	Strong transcription	NHDF-Ad	bronchial
23	chr2:11329000-11343800	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr2:11329200-11342600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr2:11329200-11343600	Strong transcription	Dnd41	blood
26	chr2:11329200-11364400	Strong transcription	Liver	Liver
27	chr2:11329200-11369200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:11329400-11342400	Strong transcription	Osteobl	bone
29	chr2:11329400-11343400	Strong transcription	HSMM	muscle
30	chr2:11330200-11353400	Weak transcription	Gastric	stomach
31	chr2:11330400-11343200	Strong transcription	HUES48 Cell Line	embryonic stem cell
32	chr2:11331200-11342400	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr2:11332200-11342400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr2:11332400-11357600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr2:11332600-11343200	Strong transcription	Hela-S3	cervix
36	chr2:11333400-11347400	Weak transcription	Brain Hippocampus Middle	brain
37	chr2:11333400-11386200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr2:11333600-11352200	Weak transcription	Psoas Muscle	Psoas
39	chr2:11333800-11353400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr2:11334000-11343400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr2:11334400-11363600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr2:11334600-11344000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr2:11334800-11342600	Strong transcription	Rectal Mucosa Donor 31	rectum
44	chr2:11334800-11343200	Strong transcription	Placenta	Placenta
45	chr2:11334800-11344000	Strong transcription	Fetal Intestine Large	intestine
46	chr2:11335400-11342400	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr2:11335400-11343200	Strong transcription	Cortex derived primary cultured neurospheres	brain
48	chr2:11335400-11343400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr2:11335600-11342400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr2:11335600-11343200	Strong transcription	Duodenum Mucosa	Duodenum

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