Variant report

Variant	rs639648
Chromosome Location	chr11:121432647-121432648
allele	G/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	FOXA1	chr11:121432264-121432913	HepG2	liver:	n/a	n/a
2	FOXA1	chr11:121432329-121432884	HepG2	liver:	n/a	n/a
3	POLR2A	chr11:121432461-121432835	HepG2	liver:	n/a	n/a
4	FOXA1	chr11:121432335-121432881	HepG2	liver:	n/a	n/a
5	EP300	chr11:121432275-121432798	HepG2	liver:	n/a	chr11:121432525-121432535 chr11:121432727-121432737
6	TEAD4	chr11:121432401-121432869	HepG2	liver:	n/a	n/a
7	MYBL2	chr11:121432399-121432850	HepG2	liver:	n/a	n/a
8	FOXA1	chr11:121432301-121432857	HepG2	liver:	n/a	n/a
9	FOXA2	chr11:121432396-121432890	HepG2	liver:	n/a	n/a
10	EP300	chr11:121432577-121432760	HepG2	liver:	n/a	chr11:121432727-121432737
11	HDAC2	chr11:121432379-121432860	HepG2	liver:	n/a	chr11:121432727-121432736 chr11:121432621-121432635
12	POLR2A	chr11:121431853-121432671	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
SORL1	TF binding region

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10892759	0.80[CEU][hapmap]
rs1503422	0.80[CEU][hapmap]
rs1503423	0.88[ASN][1000 genomes]
rs1614735	0.90[CHB][hapmap]
rs1620003	0.90[CHB][hapmap];0.82[JPT][hapmap]
rs1625828	0.80[CEU][hapmap]
rs1699096	0.88[CHB][hapmap];0.81[JPT][hapmap]
rs1699103	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1699105	1.00[YRI][hapmap]
rs1699106	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1699108	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1784923	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1784931	0.90[CHB][hapmap]
rs1790213	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1792113	0.80[CEU][hapmap]
rs1792122	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1792125	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs640479	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7112853	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7116734	0.96[CEU][hapmap];0.89[AMR][1000 genomes]
rs7116751	0.88[AMR][1000 genomes]
rs924746	0.96[CEU][hapmap];0.91[AMR][1000 genomes];0.91[EUR][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	nsv522474	chr11:121356968-121436270	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	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:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:121391400-121437200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:121395200-121434800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr11:121396400-121445000	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr11:121396600-121437600	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr11:121397000-121434800	Weak transcription	Fetal Kidney	kidney
6	chr11:121399000-121443200	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr11:121404600-121437200	Weak transcription	Lung	lung
8	chr11:121405600-121437400	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr11:121407200-121459000	Weak transcription	Colon Smooth Muscle	Colon
10	chr11:121411800-121433600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr11:121412800-121435200	Weak transcription	Small Intestine	intestine
12	chr11:121414000-121433600	Strong transcription	Rectal Mucosa Donor 29	rectum
13	chr11:121414000-121452400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr11:121416400-121433600	Strong transcription	Primary B cells from peripheral blood	blood
15	chr11:121416400-121451800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr11:121416600-121471800	Strong transcription	Primary T cells from cord blood	blood
17	chr11:121417000-121452400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr11:121417600-121433400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
19	chr11:121417600-121452400	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr11:121417800-121434000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr11:121417800-121439000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr11:121418000-121451800	Strong transcription	Primary T helper cells PMA-I stimulated	--
23	chr11:121420600-121433200	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr11:121420600-121433400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr11:121420600-121433600	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr11:121421000-121433000	Strong transcription	Primary B cells from cord blood	blood
27	chr11:121422400-121437600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr11:121422800-121437200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr11:121423200-121433200	Strong transcription	Fetal Thymus	thymus
30	chr11:121423400-121432800	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr11:121423400-121432800	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr11:121423400-121434000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
33	chr11:121424200-121433400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr11:121424600-121436400	Strong transcription	Rectal Mucosa Donor 31	rectum
35	chr11:121424800-121441800	Weak transcription	Fetal Brain Male	brain
36	chr11:121425000-121442600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr11:121425000-121456800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr11:121425400-121448000	Weak transcription	Stomach Mucosa	stomach
39	chr11:121425800-121437600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr11:121426000-121433400	Strong transcription	Thymus	Thymus
41	chr11:121426000-121433600	Strong transcription	NHEK	skin
42	chr11:121426400-121432800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr11:121426600-121439200	Strong transcription	Primary T killer memory cells from peripheral blood	blood
44	chr11:121427200-121442800	Weak transcription	Pancreas	Pancrea
45	chr11:121427400-121437200	Weak transcription	Gastric	stomach
46	chr11:121427800-121439200	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr11:121428200-121441800	Weak transcription	Esophagus	oesophagus
48	chr11:121428200-121451400	Strong transcription	Primary T cells fromperipheralblood	blood
49	chr11:121428600-121436400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr11:121429200-121434200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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