Variant report

Variant	rs71484170
Chromosome Location	chr11:120341938-120341939
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	TCF12	chr11:120341736-120342311	SK-N-SH	brain:	n/a	n/a
2	TCF12	chr11:120341704-120342429	SK-N-SH	brain:	n/a	n/a
3	GATA3	chr11:120341741-120342297	SK-N-SH	brain:	n/a	chr11:120341824-120341836
4	MAFK	chr11:120341857-120342216	IMR90	lung:	n/a	n/a
5	POLR2A	chr11:120339665-120342296	K562	blood:	n/a	n/a
6	FOSL2	chr11:120341671-120342267	SK-N-SH	brain:	n/a	n/a
7	POLR2A	chr11:120341785-120342138	SK-N-SH	brain:	n/a	n/a
8	GATA3	chr11:120341709-120342370	SK-N-SH	brain:	n/a	chr11:120341824-120341836

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:120340205..120342933-chr11:120344319..120346429,2	K562	blood:

Variant related genes	Relation type
ARHGEF12	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11217874	0.82[AMR][1000 genomes]
rs11217875	0.82[AMR][1000 genomes]
rs11217878	0.88[AMR][1000 genomes]
rs2276035	0.86[AMR][1000 genomes]
rs35659242	0.81[AFR][1000 genomes]
rs4938807	0.82[AMR][1000 genomes]

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	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv529003	chr11:120209386-120355230	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120301400-120355200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:120303600-120355600	Weak transcription	Stomach Mucosa	stomach
3	chr11:120304800-120359400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr11:120308000-120352600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr11:120308000-120359000	Strong transcription	Placenta	Placenta
6	chr11:120308400-120357800	Strong transcription	Adipose Nuclei	Adipose
7	chr11:120310200-120350600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:120310400-120358000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr11:120311200-120357200	Strong transcription	Duodenum Smooth Muscle	Duodenum
10	chr11:120312400-120351800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr11:120312400-120354000	Strong transcription	Duodenum Mucosa	Duodenum
12	chr11:120312800-120357800	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr11:120314200-120362200	Strong transcription	Liver	Liver
14	chr11:120314800-120342000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr11:120315200-120353000	Strong transcription	Fetal Brain Female	brain
16	chr11:120315400-120342400	Strong transcription	HUES6 Cell Line	embryonic stem cell
17	chr11:120316400-120382000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr11:120317400-120343200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr11:120319800-120342400	Strong transcription	HUVEC	blood vessel
20	chr11:120320000-120350600	Weak transcription	Hela-S3	cervix
21	chr11:120320000-120358000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr11:120320200-120357600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr11:120321000-120358000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr11:120321200-120350800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr11:120323600-120348800	Weak transcription	Spleen	Spleen
26	chr11:120325600-120350600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr11:120327400-120342000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
28	chr11:120328400-120345600	Weak transcription	Pancreas	Pancrea
29	chr11:120328400-120347800	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr11:120329000-120358800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr11:120329600-120342000	Strong transcription	Fetal Muscle Trunk	muscle
32	chr11:120329600-120345600	Weak transcription	Primary B cells from cord blood	blood
33	chr11:120330600-120342600	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr11:120332200-120344800	Weak transcription	Primary hematopoietic stem cells	blood
35	chr11:120333200-120346600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr11:120333800-120343600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr11:120333800-120347800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr11:120334000-120348000	Weak transcription	Aorta	Aorta
39	chr11:120334000-120348800	Weak transcription	Small Intestine	intestine
40	chr11:120335200-120359600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr11:120335400-120342800	Strong transcription	Fetal Lung	lung
42	chr11:120335600-120342000	Strong transcription	GM12878-XiMat	blood
43	chr11:120335800-120344600	Strong transcription	HUES48 Cell Line	embryonic stem cell
44	chr11:120335800-120354000	Strong transcription	HUES64 Cell Line	embryonic stem cell
45	chr11:120336200-120343000	Strong transcription	Skeletal Muscle Female	skeletal muscle
46	chr11:120336200-120343200	Strong transcription	Rectal Mucosa Donor 31	rectum
47	chr11:120336200-120358600	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr11:120336400-120342600	Strong transcription	Fetal Brain Male	brain
49	chr11:120336600-120350800	Weak transcription	Right Atrium	heart
50	chr11:120337000-120343400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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