Variant report

Variant	rs7129197
Chromosome Location	chr11:121107345-121107346
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:46)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:46 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	KAP1	chr11:121106742-121107740	HEK293	kidney:	n/a	n/a
2	KAP1	chr11:121106769-121107711	U2OS	brain:	n/a	n/a
3	USF1	chr11:121107245-121107508	H1-hESC	embryonic stem cell:	n/a	chr11:121107420-121107431
4	USF1	chr11:121107337-121107605	H1-hESC	embryonic stem cell:	n/a	chr11:121107420-121107431
5	SP1	chr11:121106748-121107576	GM12878	blood:	n/a	n/a
6	TCF7L2	chr11:121107185-121107764	HEK293	kidney:	n/a	n/a
7	USF1	chr11:121107322-121107470	HepG2	liver:	n/a	chr11:121107420-121107431
8	EP300	chr11:121106969-121107650	ECC-1	luminal epithelium:	n/a	n/a
9	MTA3	chr11:121106646-121108654	GM12878	blood:	n/a	n/a
10	EP300	chr11:121107187-121107443	Hela-S3	cervix:	n/a	n/a
11	TCF12	chr11:121107211-121107636	H1-hESC	embryonic stem cell:	n/a	n/a
12	TCF3	chr11:121107245-121107565	GM12878	blood:	n/a	n/a
13	POLR2A	chr11:121106866-121109256	GM12878	blood:	n/a	n/a
14	EP300	chr11:121106804-121107514	GM12878	blood:	n/a	n/a
15	STAT5A	chr11:121106692-121107824	GM12878	blood:	n/a	n/a
16	POLR2A	chr11:121107327-121109098	GM12892	blood:	n/a	n/a
17	EP300	chr11:121107027-121107599	ECC-1	luminal epithelium:	n/a	n/a
18	TEAD4	chr11:121107155-121107581	H1-hESC	embryonic stem cell:	n/a	n/a
19	SP1	chr11:121106728-121107589	GM12878	blood:	n/a	n/a
20	IRF4	chr11:121106749-121107498	GM12878	blood:	n/a	n/a
21	TCF12	chr11:121107337-121107556	H1-hESC	embryonic stem cell:	n/a	n/a
22	BATF	chr11:121107315-121107624	GM12878	blood:	n/a	n/a
23	SETDB1	chr11:121107016-121107551	U2OS	brain:	n/a	n/a
24	RUNX3	chr11:121106572-121107348	GM12878	blood:	n/a	n/a
25	RUNX3	chr11:121106620-121107772	GM12878	blood:	n/a	n/a
26	POLR2A	chr11:121106909-121109148	GM12878	blood:	n/a	n/a
27	NFIC	chr11:121106546-121109225	GM12878	blood:	n/a	n/a
28	ATF2	chr11:121106613-121108463	GM12878	blood:	n/a	n/a
29	JUND	chr11:121107177-121107553	H1-hESC	embryonic stem cell:	n/a	n/a
30	TEAD4	chr11:121107063-121107386	ECC-1	luminal epithelium:	n/a	n/a
31	NFIC	chr11:121107344-121108396	GM12878	blood:	n/a	n/a
32	MAZ	chr11:121107167-121107356	GM12878	blood:	n/a	n/a
33	MEF2A	chr11:121106661-121107651	GM12878	blood:	n/a	chr11:121106806-121106817
34	NR3C1	chr11:121107135-121107398	ECC-1	luminal epithelium:	n/a	n/a
35	MAX	chr11:121107307-121107426	H1-hESC	embryonic stem cell:	n/a	n/a
36	NR3C1	chr11:121107111-121107454	ECC-1	luminal epithelium:	n/a	n/a
37	SIN3A	chr11:121107337-121107540	H1-hESC	embryonic stem cell:	n/a	n/a
38	EP300	chr11:121107330-121107551	K562	blood:	n/a	n/a
39	BHLHE40	chr11:121106768-121107583	GM12878	blood:	n/a	n/a
40	TEAD4	chr11:121107082-121107662	H1-hESC	embryonic stem cell:	n/a	n/a
41	TBL1XR1	chr11:121106757-121107413	GM12878	blood:	n/a	n/a
42	POLR2A	chr11:121106978-121109014	GM12878	blood:	n/a	n/a
43	TCF12	chr11:121107245-121107619	GM12878	blood:	n/a	n/a
44	TCF12	chr11:121107138-121107581	ECC-1	luminal epithelium:	n/a	n/a
45	TCF12	chr11:121107327-121107646	GM12878	blood:	n/a	n/a
46	PRDM1	chr11:121107160-121107394	Hela-S3	cervix:	n/a	chr11:121107214-121107229

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:121096484..121098779-chr11:121104853..121107666,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000254515	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11218222	0.80[ASN][1000 genomes]
rs1941297	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1941298	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs948381	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[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	nsv1042295	chr11:121072853-121177079	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
2	nsv975986	chr11:121106081-121115293	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:121100600-121107600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:121102800-121107400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr11:121102800-121107400	Weak transcription	Right Atrium	heart
4	chr11:121103000-121107400	Weak transcription	Gastric	stomach
5	chr11:121103000-121107600	Weak transcription	Pancreas	Pancrea
6	chr11:121104400-121108600	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr11:121104400-121109000	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr11:121104400-121110600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:121104600-121108800	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr11:121104600-121109400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr11:121104600-121110000	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr11:121104600-121110200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr11:121104600-121113200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr11:121104800-121108000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr11:121104800-121109200	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr11:121104800-121113200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr11:121105400-121108400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr11:121105600-121107800	Enhancers	Fetal Heart	heart
19	chr11:121105600-121112800	Enhancers	Fetal Muscle Leg	muscle
20	chr11:121105800-121107600	Enhancers	HSMM	muscle
21	chr11:121105800-121109000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr11:121105800-121113800	Enhancers	Muscle Satellite Cultured Cells	--
23	chr11:121106000-121107800	Enhancers	Liver	Liver
24	chr11:121106000-121110200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr11:121106200-121107800	Flanking Active TSS	GM12878-XiMat	blood
26	chr11:121106600-121110400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr11:121106600-121112800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr11:121106800-121108000	Enhancers	H1 Cell Line	embryonic stem cell
29	chr11:121106800-121108200	Enhancers	Primary B cells from peripheral blood	blood
30	chr11:121106800-121108400	Enhancers	Aorta	Aorta
31	chr11:121106800-121108800	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr11:121106800-121109000	Enhancers	NH-A	brain
33	chr11:121106800-121109600	Enhancers	NHEK	skin
34	chr11:121107000-121107600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr11:121107000-121107600	Enhancers	HSMMtube	muscle
36	chr11:121107000-121107800	Enhancers	Fetal Intestine Small	intestine
37	chr11:121107000-121107800	Enhancers	Placenta Amnion	Placenta Amnion
38	chr11:121107000-121107800	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr11:121107000-121107800	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr11:121107000-121108000	Enhancers	H9 Cell Line	embryonic stem cell
41	chr11:121107000-121108000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr11:121107000-121108600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr11:121107000-121108600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr11:121107000-121109400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr11:121107000-121109600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr11:121107200-121107400	Flanking Active TSS	Duodenum Mucosa	Duodenum
47	chr11:121107200-121107600	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr11:121107200-121107600	Enhancers	iPS-20b Cell Line	embryonic stem cell

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