Variant report

Variant	rs11172167
Chromosome Location	chr12:57728705-57728706
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10083191	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11172151	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11172213	1.00[AMR][1000 genomes]
rs12296737	1.00[AMR][1000 genomes]
rs12299952	0.92[AFR][1000 genomes]
rs12310527	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs12310686	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs12312567	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12312780	1.00[AMR][1000 genomes]
rs12314262	1.00[AMR][1000 genomes]
rs12315459	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12316507	1.00[AMR][1000 genomes]
rs12317318	1.00[AMR][1000 genomes]
rs12317897	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12318999	1.00[AMR][1000 genomes]
rs12319006	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12320772	1.00[AMR][1000 genomes]
rs12322158	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs12322514	1.00[AMR][1000 genomes]
rs12322636	1.00[AMR][1000 genomes]
rs13377950	1.00[AMR][1000 genomes]
rs17119482	1.00[AMR][1000 genomes]
rs3024944	1.00[AMR][1000 genomes]
rs34000745	1.00[AMR][1000 genomes]
rs34660894	1.00[AMR][1000 genomes]
rs35958371	1.00[AMR][1000 genomes]
rs9971718	1.00[YRI][hapmap];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046013	chr12:57714676-57895167	Active TSS Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
2	nsv541502	chr12:57714676-57895167	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57691000-57736200	Weak transcription	Right Atrium	heart
2	chr12:57693600-57743800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr12:57694000-57780000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr12:57694200-57734000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr12:57694400-57732400	Weak transcription	Ovary	ovary
6	chr12:57694400-57735000	Weak transcription	Psoas Muscle	Psoas
7	chr12:57695200-57794600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr12:57697000-57735400	Weak transcription	Right Ventricle	heart
9	chr12:57697200-57734000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:57697200-57745000	Weak transcription	Lung	lung
11	chr12:57699800-57762400	Weak transcription	Left Ventricle	heart
12	chr12:57700000-57733800	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr12:57700000-57736000	Weak transcription	Fetal Brain Male	brain
14	chr12:57703400-57733800	Weak transcription	Primary hematopoietic stem cells	blood
15	chr12:57703400-57734600	Weak transcription	Stomach Smooth Muscle	stomach
16	chr12:57703400-57742000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr12:57704200-57728800	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr12:57704200-57733600	Weak transcription	HSMM	muscle
19	chr12:57704200-57743200	Weak transcription	Duodenum Mucosa	Duodenum
20	chr12:57704400-57733800	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr12:57704400-57789200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr12:57706400-57732200	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr12:57709800-57746800	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr12:57712800-57735400	Weak transcription	NHLF	lung
25	chr12:57713600-57733000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr12:57713600-57733800	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr12:57713800-57745800	Weak transcription	Stomach Mucosa	stomach
28	chr12:57714400-57733600	Weak transcription	Adipose Nuclei	Adipose
29	chr12:57714400-57736200	Weak transcription	Fetal Lung	lung
30	chr12:57714600-57734000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr12:57717600-57733800	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr12:57717800-57733600	Weak transcription	Brain Angular Gyrus	brain
33	chr12:57720200-57730200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr12:57720400-57733800	Weak transcription	Fetal Kidney	kidney
35	chr12:57721000-57734000	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr12:57721200-57735600	Weak transcription	Brain Germinal Matrix	brain
37	chr12:57722000-57741000	Weak transcription	Dnd41	blood
38	chr12:57722000-57765200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr12:57722200-57743600	Weak transcription	Aorta	Aorta
40	chr12:57722600-57731600	Weak transcription	Fetal Intestine Small	intestine
41	chr12:57722600-57732600	Weak transcription	Primary B cells from peripheral blood	blood
42	chr12:57722600-57744200	Weak transcription	Fetal Intestine Large	intestine
43	chr12:57722800-57741000	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr12:57722800-57771200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr12:57722800-57786200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr12:57723200-57735400	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr12:57723200-57736200	Weak transcription	Fetal Brain Female	brain
48	chr12:57723400-57730000	Weak transcription	Primary B cells from cord blood	blood
49	chr12:57723800-57735400	Weak transcription	HSMMtube	muscle
50	chr12:57724400-57734000	Weak transcription	GM12878-XiMat	blood

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