Variant report

Variant	rs924746
Chromosome Location	chr11:121443037-121443038
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	chr11:121443024-121443729	GM12892	blood:	n/a	n/a
2	POLR2A	chr11:121443026-121443042	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr11:121443018-121443774	HL-60	blood:	n/a	n/a
4	POLR2A	chr11:121442802-121443867	GM12878	blood:	n/a	n/a
5	REST	chr11:121442986-121444125	H1-neurons	neurons:	n/a	chr11:121443050-121443063 chr11:121443699-121443712
6	POLR2A	chr11:121442350-121443251	HepG2	liver:	n/a	n/a
7	POLR2A	chr11:121442502-121443076	GM12878	blood:	n/a	n/a
8	POLR2A	chr11:121442988-121443689	HL-60	blood:	n/a	n/a

Variant related genes	Relation type
SORL1	TF binding region

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1629493	0.84[CHB][hapmap]
rs1699098	0.84[CHB][hapmap]
rs1699103	0.96[CEU][hapmap];0.87[MEX][hapmap];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1699106	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1699108	0.96[CEU][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1784923	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1790213	0.96[CEU][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1792125	0.96[CEU][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4420280	0.81[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs556349	0.86[CHB][hapmap];0.86[CHD][hapmap];0.95[JPT][hapmap]
rs639648	0.96[CEU][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs640479	0.96[CEU][hapmap];0.87[MEX][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs67140863	0.98[ASN][1000 genomes]
rs7104977	0.94[ASN][1000 genomes]
rs7112853	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7116734	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7116751	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7121447	0.80[CEU][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	nsv975233	chr11:121359656-121574786	Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:121396400-121445000	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr11:121399000-121443200	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr11:121407200-121459000	Weak transcription	Colon Smooth Muscle	Colon
4	chr11:121414000-121452400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr11:121416400-121451800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr11:121416600-121471800	Strong transcription	Primary T cells from cord blood	blood
7	chr11:121417000-121452400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr11:121417600-121452400	Strong transcription	Primary T helper cells fromperipheralblood	blood
9	chr11:121418000-121451800	Strong transcription	Primary T helper cells PMA-I stimulated	--
10	chr11:121425000-121456800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr11:121425400-121448000	Weak transcription	Stomach Mucosa	stomach
12	chr11:121428200-121451400	Strong transcription	Primary T cells fromperipheralblood	blood
13	chr11:121430800-121446200	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr11:121431000-121466400	Weak transcription	Ovary	ovary
15	chr11:121432800-121450000	Weak transcription	Aorta	Aorta
16	chr11:121434400-121451200	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr11:121434600-121453200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr11:121434800-121451800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
19	chr11:121435200-121446200	Weak transcription	Fetal Kidney	kidney
20	chr11:121435200-121464800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr11:121436200-121450400	Strong transcription	Duodenum Mucosa	Duodenum
22	chr11:121437600-121449600	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr11:121437800-121443200	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr11:121437800-121443400	Weak transcription	Fetal Stomach	stomach
25	chr11:121437800-121445000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr11:121437800-121446600	Weak transcription	Right Atrium	heart
27	chr11:121437800-121447800	Weak transcription	Gastric	stomach
28	chr11:121437800-121449600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr11:121437800-121450000	Strong transcription	H1 Cell Line	embryonic stem cell
30	chr11:121437800-121453600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr11:121438000-121448200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr11:121438000-121449000	Strong transcription	Primary neutrophils fromperipheralblood	blood
33	chr11:121438200-121451200	Strong transcription	HepG2	liver
34	chr11:121438400-121443200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr11:121438400-121446600	Weak transcription	HMEC	breast
36	chr11:121438400-121453600	Weak transcription	Colonic Mucosa	Colon
37	chr11:121439000-121449200	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr11:121440600-121443800	Strong transcription	Fetal Intestine Large	intestine
39	chr11:121440600-121443800	Strong transcription	Fetal Intestine Small	intestine
40	chr11:121440600-121447400	Strong transcription	Rectal Mucosa Donor 31	rectum
41	chr11:121440600-121449800	Strong transcription	Dnd41	blood
42	chr11:121440600-121450400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
43	chr11:121440600-121450800	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr11:121440600-121485000	Strong transcription	HUES48 Cell Line	embryonic stem cell
45	chr11:121440800-121447600	Strong transcription	Fetal Thymus	thymus
46	chr11:121440800-121450200	Strong transcription	H9 Cell Line	embryonic stem cell
47	chr11:121440800-121450200	Strong transcription	Rectal Mucosa Donor 29	rectum
48	chr11:121440800-121452000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr11:121441400-121443600	Strong transcription	Thymus	Thymus
50	chr11:121441400-121447200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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