Variant report

Variant	rs12694928
Chromosome Location	chr2:233992693-233992694
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10176163	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10179137	0.89[EUR][1000 genomes]
rs10193128	0.94[CEU][hapmap]
rs10202748	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10754947	0.84[AMR][1000 genomes]
rs12694926	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12694927	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12694929	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12987520	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13011232	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13013293	0.94[CEU][hapmap];0.87[EUR][1000 genomes]
rs13021947	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13022011	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13388142	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28429042	0.83[AMR][1000 genomes]
rs28459768	0.82[AMR][1000 genomes]
rs28478933	0.80[AMR][1000 genomes]
rs28534487	0.81[AMR][1000 genomes]
rs28539971	0.81[AMR][1000 genomes]
rs28576692	0.81[AMR][1000 genomes]
rs28605534	0.81[AMR][1000 genomes]
rs28609111	0.81[AMR][1000 genomes]
rs28631646	0.81[AMR][1000 genomes]
rs28655385	0.82[AMR][1000 genomes]
rs28669088	0.80[AMR][1000 genomes]
rs35349669	0.82[AMR][1000 genomes]
rs35877172	0.81[AMR][1000 genomes]
rs62192871	0.89[EUR][1000 genomes]
rs62192872	0.88[EUR][1000 genomes]
rs62192874	0.85[AMR][1000 genomes]
rs6431237	0.84[AMR][1000 genomes]
rs6431239	0.84[AMR][1000 genomes]
rs6715767	0.85[CEU][hapmap];0.84[AMR][1000 genomes]
rs67498812	0.82[AMR][1000 genomes]
rs7419666	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7558417	0.84[AMR][1000 genomes]
rs7559212	0.81[AMR][1000 genomes]
rs7568027	0.81[AMR][1000 genomes]
rs7568389	0.83[AMR][1000 genomes]
rs7570320	0.85[CEU][hapmap];0.84[AMR][1000 genomes]
rs7577360	0.82[AMR][1000 genomes]
rs7581787	0.82[AMR][1000 genomes]
rs7589369	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7597516	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7597763	0.83[AMR][1000 genomes]
rs7605743	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][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	nsv876009	chr2:233799400-233996429	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv876012	chr2:233899377-233996429	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:233969800-233996800	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr2:233982200-233997000	Weak transcription	Right Atrium	heart
3	chr2:233982400-233995000	Weak transcription	Colonic Mucosa	Colon
4	chr2:233982600-233995000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr2:233983400-233993400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr2:233984000-234003600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr2:233984800-233996400	Weak transcription	Brain Anterior Caudate	brain
8	chr2:233986400-233993600	Strong transcription	Primary T cells from cord blood	blood
9	chr2:233986400-233993600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr2:233986600-233993000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr2:233986600-233993600	Strong transcription	Primary T cells fromperipheralblood	blood
12	chr2:233986600-233993600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr2:233986600-233993600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr2:233986600-233993600	Strong transcription	Thymus	Thymus
15	chr2:233986600-233994200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr2:233986600-234001200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr2:233986600-234001600	Strong transcription	Primary hematopoietic stem cells	blood
18	chr2:233986600-234001800	Strong transcription	Primary neutrophils fromperipheralblood	blood
19	chr2:233986800-233992800	Strong transcription	Primary T helper cells PMA-I stimulated	--
20	chr2:233986800-233993400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
21	chr2:233986800-233994200	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr2:233987000-233994000	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr2:233987400-233996400	Weak transcription	Fetal Brain Female	brain
24	chr2:233988600-233994200	Weak transcription	Fetal Intestine Small	intestine
25	chr2:233988600-234003400	Weak transcription	HUVEC	blood vessel
26	chr2:233989400-233993400	Weak transcription	Fetal Stomach	stomach
27	chr2:233989400-234000400	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr2:233989600-233993600	Strong transcription	Fetal Thymus	thymus
29	chr2:233989800-233994000	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr2:233989800-234003400	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr2:233990200-233993600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr2:233990400-233993600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr2:233990400-233993600	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr2:233990400-233994000	Strong transcription	GM12878-XiMat	blood
35	chr2:233990400-233994200	Strong transcription	Spleen	Spleen
36	chr2:233990400-234002000	Strong transcription	Primary B cells from cord blood	blood
37	chr2:233990800-233994000	Strong transcription	Primary B cells from peripheral blood	blood
38	chr2:233990800-233995200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr2:233990800-234001600	Weak transcription	Gastric	stomach
40	chr2:233991000-233994200	Weak transcription	Lung	lung
41	chr2:233991000-234002200	Weak transcription	Rectal Smooth Muscle	rectum
42	chr2:233991200-234002800	Weak transcription	Left Ventricle	heart
43	chr2:233991400-233993600	Weak transcription	Placenta	Placenta
44	chr2:233992000-233994000	Weak transcription	Dnd41	blood
45	chr2:233992000-234000000	Weak transcription	Liver	Liver
46	chr2:233992000-234002600	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr2:233992200-233993600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr2:233992200-233995000	Weak transcription	Adipose Nuclei	Adipose
49	chr2:233992400-233993600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr2:233992400-233995000	Weak transcription	HepG2	liver

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