Variant report

Variant	rs2229954
Chromosome Location	chr12:49221495-49221496
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:49217312..49223334-chr12:49223804..49229177,10	MCF-7	breast:
2	chr12:49219851..49223699-chr12:49232971..49235406,3	MCF-7	breast:
3	chr12:49216157..49218011-chr12:49220341..49222044,2	MCF-7	breast:
4	chr12:49213927..49217997-chr12:49220866..49225081,6	K562	blood:
5	chr12:49208067..49210206-chr12:49219385..49222267,2	K562	blood:
6	chr12:49211803..49215658-chr12:49220111..49222231,3	MCF-7	breast:
7	chr12:49219923..49221746-chr12:49222016..49224026,2	K562	blood:
8	chr12:49220757..49224194-chr12:49244606..49248559,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000174243	Chromatin interaction
ENSG00000167535	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11834413	1.00[LWK][hapmap];1.00[MEX][hapmap]
rs12809774	1.00[LWK][hapmap]
rs2024	1.00[LWK][hapmap]

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	nsv826363	chr12:49177227-49250989	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49212600-49223400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr12:49212800-49224000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr12:49213000-49221600	Weak transcription	Left Ventricle	heart
4	chr12:49213000-49222400	Weak transcription	Primary B cells from cord blood	blood
5	chr12:49213000-49222800	Weak transcription	Primary hematopoietic stem cells	blood
6	chr12:49213000-49223400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr12:49213000-49226000	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr12:49213000-49231200	Weak transcription	Right Atrium	heart
9	chr12:49213200-49221800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr12:49213200-49222400	Weak transcription	Primary B cells from peripheral blood	blood
11	chr12:49213200-49222800	Weak transcription	Hela-S3	cervix
12	chr12:49213200-49223200	Weak transcription	HSMMtube	muscle
13	chr12:49213200-49223800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr12:49213200-49223800	Weak transcription	HSMM	muscle
15	chr12:49213400-49221800	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr12:49213400-49222200	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr12:49213400-49222600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr12:49213400-49224800	Weak transcription	Fetal Kidney	kidney
19	chr12:49213400-49226000	Weak transcription	Psoas Muscle	Psoas
20	chr12:49213600-49221800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr12:49214600-49234800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr12:49215200-49243800	Strong transcription	Fetal Stomach	stomach
23	chr12:49215400-49235400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr12:49215600-49240000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr12:49215800-49235000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:49216200-49235400	Strong transcription	Fetal Muscle Leg	muscle
27	chr12:49216200-49240200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr12:49216400-49224200	Weak transcription	Small Intestine	intestine
29	chr12:49216600-49221600	Strong transcription	Fetal Brain Female	brain
30	chr12:49216600-49222400	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr12:49216800-49222000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr12:49216800-49228600	Strong transcription	Cortex derived primary cultured neurospheres	brain
33	chr12:49216800-49234200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr12:49216800-49235400	Strong transcription	Fetal Intestine Large	intestine
35	chr12:49216800-49238600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr12:49216800-49240000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr12:49216800-49240000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr12:49216800-49244600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr12:49217000-49223000	Weak transcription	Brain Substantia Nigra	brain
40	chr12:49217000-49234200	Strong transcription	Ovary	ovary
41	chr12:49217000-49234400	Strong transcription	Sigmoid Colon	Sigmoid Colon
42	chr12:49217000-49234400	Strong transcription	Stomach Smooth Muscle	stomach
43	chr12:49217000-49234800	Strong transcription	Placenta Amnion	Placenta Amnion
44	chr12:49217000-49235200	Strong transcription	Fetal Muscle Trunk	muscle
45	chr12:49217000-49243800	Strong transcription	Fetal Intestine Small	intestine
46	chr12:49217200-49222200	Weak transcription	Liver	Liver
47	chr12:49217200-49222200	Strong transcription	Esophagus	oesophagus
48	chr12:49217200-49228400	Strong transcription	Colonic Mucosa	Colon
49	chr12:49217200-49228400	Strong transcription	NHLF	lung
50	chr12:49217200-49234400	Strong transcription	Rectal Mucosa Donor 29	rectum

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