Variant report

Variant	rs12329273
Chromosome Location	chr2:11428726-11428727
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:11428422-11428800	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:11428310..11431014-chr2:11439661..11442646,2	MCF-7	breast:

Variant related genes	Relation type
ROCK2	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10205022	0.91[AFR][1000 genomes]
rs10495580	0.82[AFR][1000 genomes]
rs10495581	0.91[AFR][1000 genomes]
rs12329049	0.82[AFR][1000 genomes]
rs12329341	1.00[AFR][1000 genomes]
rs13387757	0.84[AFR][1000 genomes]
rs13416047	0.91[AFR][1000 genomes]
rs13420367	0.82[AFR][1000 genomes]
rs13431906	0.82[AFR][1000 genomes]
rs1375853	0.91[AFR][1000 genomes]
rs28441302	0.91[AFR][1000 genomes]
rs4267491	0.91[AFR][1000 genomes]
rs55931955	0.91[AFR][1000 genomes]
rs6705981	0.91[AFR][1000 genomes]
rs6748868	0.91[AFR][1000 genomes]
rs7583049	0.91[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526038	chr2:11369078-11489531	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	esv1827245	chr2:11385834-11442583	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	esv3334499	chr2:11428655-11428963	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv3502122	chr2:11428698-11428914	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11310600-11433000	Weak transcription	Pancreas	Pancrea
2	chr2:11394800-11432800	Weak transcription	Right Ventricle	heart
3	chr2:11410400-11433000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr2:11410800-11432800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr2:11411200-11432800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr2:11413000-11431400	Weak transcription	Lung	lung
7	chr2:11415400-11428800	Strong transcription	HepG2	liver
8	chr2:11418000-11431000	Weak transcription	Psoas Muscle	Psoas
9	chr2:11420800-11430400	Weak transcription	Small Intestine	intestine
10	chr2:11420800-11433000	Weak transcription	Spleen	Spleen
11	chr2:11424400-11429600	Weak transcription	Fetal Brain Male	brain
12	chr2:11424400-11430200	Weak transcription	Colon Smooth Muscle	Colon
13	chr2:11424600-11428800	Weak transcription	Brain Germinal Matrix	brain
14	chr2:11424600-11431400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:11424600-11432400	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr2:11424600-11432800	Weak transcription	Brain Hippocampus Middle	brain
17	chr2:11424600-11433000	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr2:11424600-11433000	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr2:11424600-11436600	Weak transcription	Fetal Kidney	kidney
20	chr2:11424800-11429800	Weak transcription	HMEC	breast
21	chr2:11424800-11432800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr2:11424800-11433000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr2:11424800-11455200	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr2:11425000-11432800	Weak transcription	Primary B cells from peripheral blood	blood
25	chr2:11425000-11433200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr2:11425200-11432400	Weak transcription	Hela-S3	cervix
27	chr2:11425200-11433000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr2:11425600-11428800	Enhancers	Fetal Heart	heart
29	chr2:11425800-11432800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr2:11426000-11435800	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr2:11426000-11438200	Weak transcription	Ovary	ovary
32	chr2:11426000-11442400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr2:11426000-11444800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr2:11426200-11432800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr2:11426200-11433000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr2:11426200-11433000	Weak transcription	Fetal Stomach	stomach
37	chr2:11426200-11443400	Weak transcription	HSMM	muscle
38	chr2:11426400-11441600	Weak transcription	Fetal Intestine Small	intestine
39	chr2:11426600-11431000	Weak transcription	GM12878-XiMat	blood
40	chr2:11426600-11431800	Weak transcription	Duodenum Mucosa	Duodenum
41	chr2:11426600-11432600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr2:11426600-11432800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr2:11426600-11432800	Weak transcription	Primary hematopoietic stem cells	blood
44	chr2:11426600-11432800	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr2:11426600-11432800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr2:11426600-11432800	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr2:11426600-11432800	Weak transcription	K562	blood
48	chr2:11426600-11433000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr2:11426600-11433000	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr2:11426600-11433000	Weak transcription	Fetal Muscle Leg	muscle

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