Variant report

Variant	rs574127672
Chromosome Location	chr11:121108981-121108982
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	CTCF	chr11:121108840-121108990	AG10803	skin:	n/a	n/a
2	POLR2A	chr11:121107951-121109018	GM12892	blood:	n/a	n/a
3	IKZF1	chr11:121107666-121109222	GM12878	blood:	n/a	n/a
4	TBL1XR1	chr11:121108921-121109237	GM12878	blood:	n/a	n/a
5	MTA3	chr11:121108757-121109403	GM12878	blood:	n/a	n/a
6	BATF	chr11:121108727-121109060	GM12878	blood:	n/a	n/a
7	CTCF	chr11:121108880-121109030	HEEpiC	esophagus:	n/a	n/a
8	BCL11A	chr11:121108685-121109034	GM12878	blood:	n/a	n/a
9	POLR2A	chr11:121106866-121109256	GM12878	blood:	n/a	n/a
10	POLR2A	chr11:121107327-121109098	GM12892	blood:	n/a	n/a
11	CTCF	chr11:121108940-121109090	AG10803	skin:	n/a	n/a
12	MEF2A	chr11:121108940-121109419	GM12878	blood:	n/a	chr11:121109110-121109121 chr11:121109109-121109123
13	KAP1	chr11:121108345-121109702	HEK293	kidney:	n/a	n/a
14	CTCF	chr11:121108940-121109090	SAEC	small airway:	n/a	n/a
15	PAX5	chr11:121108681-121109326	GM12878	blood:	n/a	n/a
16	CHD2	chr11:121108769-121108983	GM12878	blood:	n/a	n/a
17	POLR2A	chr11:121106909-121109148	GM12878	blood:	n/a	n/a
18	NFIC	chr11:121106546-121109225	GM12878	blood:	n/a	n/a
19	TBP	chr11:121108765-121109088	GM12878	blood:	n/a	n/a
20	CTCF	chr11:121108900-121109050	GM12865	blood:	n/a	n/a
21	BCL11A	chr11:121108704-121109088	GM12878	blood:	n/a	n/a
22	BATF	chr11:121108683-121109269	GM12878	blood:	n/a	n/a
23	RUNX3	chr11:121108804-121109391	GM12878	blood:	n/a	chr11:121109155-121109164 chr11:121109155-121109164 chr11:121109006-121109023
24	SP1	chr11:121108761-121109265	GM12878	blood:	n/a	n/a
25	CTCF	chr11:121108071-121108985	GM12878	blood:	n/a	chr11:121108813-121108821
26	EP300	chr11:121108830-121109147	GM12878	blood:	n/a	n/a
27	POU2F2	chr11:121107837-121109140	GM12878	blood:	n/a	n/a
28	RUNX3	chr11:121107811-121109390	GM12878	blood:	n/a	chr11:121109155-121109164 chr11:121109155-121109164 chr11:121109006-121109023
29	POLR2A	chr11:121106978-121109014	GM12878	blood:	n/a	n/a
30	KAP1	chr11:121108506-121109645	U2OS	brain:	n/a	n/a
31	STAT3	chr11:121108743-121109218	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000254515	TF binding region

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	nsv898424	chr11:121108865-121206354	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:121104400-121109000	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr11:121104400-121110600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:121104600-121109400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr11:121104600-121110000	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr11:121104600-121110200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr11:121104600-121113200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr11:121104800-121109200	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr11:121104800-121113200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr11:121105600-121112800	Enhancers	Fetal Muscle Leg	muscle
10	chr11:121105800-121109000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr11:121105800-121113800	Enhancers	Muscle Satellite Cultured Cells	--
12	chr11:121106000-121110200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr11:121106600-121110400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr11:121106600-121112800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr11:121106800-121109000	Enhancers	NH-A	brain
16	chr11:121106800-121109600	Enhancers	NHEK	skin
17	chr11:121107000-121109400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr11:121107000-121109600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr11:121107400-121109400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr11:121107800-121111000	Weak transcription	Right Atrium	heart
21	chr11:121107800-121112000	Weak transcription	Liver	Liver
22	chr11:121107800-121112400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr11:121107800-121116800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr11:121108000-121109000	Enhancers	Osteobl	bone
25	chr11:121108000-121109400	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr11:121108000-121110400	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr11:121108000-121111200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr11:121108000-121111600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr11:121108200-121109400	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr11:121108200-121109400	Flanking Active TSS	GM12878-XiMat	blood
31	chr11:121108200-121109400	Enhancers	HUVEC	blood vessel
32	chr11:121108200-121110600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr11:121108400-121109000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr11:121108400-121109200	Enhancers	Fetal Stomach	stomach
35	chr11:121108600-121109000	Enhancers	Primary B cells from peripheral blood	blood
36	chr11:121108600-121111000	Weak transcription	Esophagus	oesophagus
37	chr11:121108600-121111000	Weak transcription	Fetal Muscle Trunk	muscle
38	chr11:121108600-121111600	Enhancers	HSMM	muscle
39	chr11:121108600-121112000	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr11:121108600-121112000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr11:121108600-121112400	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr11:121108600-121116400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr11:121108800-121109000	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr11:121108800-121109200	Enhancers	HSMMtube	muscle

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