Variant report

Variant	rs7124060
Chromosome Location	chr11:121435966-121435967
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:35)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:35 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr11:121435675-121436218	HepG2	liver:	n/a	n/a
2	CEBPB	chr11:121435784-121436087	HepG2	liver:	n/a	n/a
3	CEBPB	chr11:121435235-121436105	HepG2	liver:	n/a	n/a
4	TEAD4	chr11:121435482-121436348	HepG2	liver:	n/a	n/a
5	EP300	chr11:121435646-121436169	HepG2	liver:	n/a	n/a
6	FOXA1	chr11:121435512-121436103	HepG2	liver:	n/a	n/a
7	MAFK	chr11:121435619-121436049	HepG2	liver:	n/a	n/a
8	HNF4A	chr11:121435622-121436107	HepG2	liver:	n/a	n/a
9	HNF4A	chr11:121435584-121436158	HepG2	liver:	n/a	n/a
10	HNF4G	chr11:121435615-121436112	HepG2	liver:	n/a	n/a
11	MYBL2	chr11:121435599-121436105	HepG2	liver:	n/a	n/a
12	MYBL2	chr11:121435437-121436252	HepG2	liver:	n/a	n/a
13	RXRA	chr11:121435680-121436050	HepG2	liver:	n/a	n/a
14	JUN	chr11:121435740-121436171	HepG2	liver:	n/a	n/a
15	RCOR1	chr11:121435550-121436258	HepG2	liver:	n/a	n/a
16	MXI1	chr11:121435540-121436195	HepG2	liver:	n/a	n/a
17	FOXA1	chr11:121435492-121436251	HepG2	liver:	n/a	n/a
18	ARID3A	chr11:121434568-121436352	HepG2	liver:	n/a	n/a
19	FOXA1	chr11:121435494-121436268	HepG2	liver:	n/a	n/a
20	HDAC2	chr11:121435572-121436100	HepG2	liver:	n/a	n/a
21	CHD2	chr11:121435654-121436201	HepG2	liver:	n/a	n/a
22	TCF12	chr11:121435703-121436045	HepG2	liver:	n/a	n/a
23	EP300	chr11:121435554-121436210	HepG2	liver:	n/a	n/a
24	FOXA2	chr11:121435534-121436308	HepG2	liver:	n/a	n/a
25	MBD4	chr11:121435552-121436144	HepG2	liver:	n/a	n/a
26	HDAC2	chr11:121435628-121436077	HepG2	liver:	n/a	n/a
27	POLR2A	chr11:121434808-121436309	HepG2	liver:	n/a	n/a
28	NFIC	chr11:121435578-121436239	HepG2	liver:	n/a	n/a
29	CEBPB	chr11:121435663-121436119	HepG2	liver:	n/a	n/a
30	CEBPB	chr11:121435239-121436202	HepG2	liver:	n/a	n/a
31	EP300	chr11:121435615-121436125	HepG2	liver:	n/a	n/a
32	FOXA1	chr11:121435465-121436183	HepG2	liver:	n/a	n/a
33	FOXA2	chr11:121435610-121436121	HepG2	liver:	n/a	n/a
34	NFIC	chr11:121435561-121436074	HepG2	liver:	n/a	n/a
35	SP1	chr11:121435482-121436208	HepG2	liver:	n/a	n/a

No data

Variant related genes	Relation type
SORL1	TF binding region

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11218276	1.00[ASN][1000 genomes]
rs11218283	1.00[ASN][1000 genomes]
rs11605969	1.00[ASN][1000 genomes]
rs11820794	1.00[ASN][1000 genomes]
rs11822577	1.00[ASN][1000 genomes]
rs11827797	1.00[ASN][1000 genomes]
rs12362520	1.00[ASN][1000 genomes]
rs17337174	0.88[CEU][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17337321	1.00[ASN][1000 genomes]
rs2134607	1.00[ASN][1000 genomes]
rs3781836	1.00[CEU][hapmap];0.86[YRI][hapmap];0.88[AFR][1000 genomes]
rs58391387	1.00[ASN][1000 genomes]
rs58698151	0.89[AFR][1000 genomes]
rs60410760	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7101373	1.00[GIH][hapmap];1.00[ASN][1000 genomes]
rs7108384	1.00[ASN][1000 genomes]
rs7128608	1.00[GIH][hapmap];1.00[ASN][1000 genomes]
rs73595277	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs753780	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	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:94 , 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	chr11:121396400-121445000	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr11:121396600-121437600	Strong transcription	Primary neutrophils fromperipheralblood	blood
4	chr11:121399000-121443200	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr11:121404600-121437200	Weak transcription	Lung	lung
6	chr11:121405600-121437400	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr11:121407200-121459000	Weak transcription	Colon Smooth Muscle	Colon
8	chr11:121414000-121452400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr11:121416400-121451800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr11:121416600-121471800	Strong transcription	Primary T cells from cord blood	blood
11	chr11:121417000-121452400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr11:121417600-121452400	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr11:121417800-121439000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr11:121418000-121451800	Strong transcription	Primary T helper cells PMA-I stimulated	--
15	chr11:121422400-121437600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr11:121422800-121437200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr11:121424600-121436400	Strong transcription	Rectal Mucosa Donor 31	rectum
18	chr11:121424800-121441800	Weak transcription	Fetal Brain Male	brain
19	chr11:121425000-121442600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr11:121425000-121456800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr11:121425400-121448000	Weak transcription	Stomach Mucosa	stomach
22	chr11:121425800-121437600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr11:121426600-121439200	Strong transcription	Primary T killer memory cells from peripheral blood	blood
24	chr11:121427200-121442800	Weak transcription	Pancreas	Pancrea
25	chr11:121427400-121437200	Weak transcription	Gastric	stomach
26	chr11:121427800-121439200	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr11:121428200-121441800	Weak transcription	Esophagus	oesophagus
28	chr11:121428200-121451400	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr11:121428600-121436400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr11:121429400-121437200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr11:121429800-121436200	Weak transcription	Rectal Smooth Muscle	rectum
32	chr11:121430000-121437600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr11:121430000-121439800	Strong transcription	Dnd41	blood
34	chr11:121430600-121437400	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr11:121430800-121436600	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr11:121430800-121437400	Weak transcription	Brain Anterior Caudate	brain
37	chr11:121430800-121437400	Weak transcription	Colonic Mucosa	Colon
38	chr11:121430800-121437400	Weak transcription	Stomach Smooth Muscle	stomach
39	chr11:121430800-121443000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr11:121430800-121446200	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr11:121431000-121436200	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr11:121431000-121436600	Weak transcription	HMEC	breast
43	chr11:121431000-121442400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr11:121431000-121466400	Weak transcription	Ovary	ovary
45	chr11:121431200-121437400	Weak transcription	Brain Germinal Matrix	brain
46	chr11:121431600-121437400	Weak transcription	Fetal Brain Female	brain
47	chr11:121432200-121437200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr11:121432200-121437200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr11:121432200-121437400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr11:121432400-121436600	Weak transcription	Spleen	Spleen

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