Variant report

Variant	rs11229844
Chromosome Location	chr11:58915197-58915198
allele	A/G
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	MEF2A	chr11:58914785-58915381	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:58345634..58347329-chr11:58913905..58915748,2	MCF-7	breast:

Variant related genes	Relation type
FAM111A	TF binding region
ENSG00000245571	TF binding region
ENSG00000186660	Chromatin interaction
ENSG00000110031	Chromatin interaction
ENSG00000255073	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1048374	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11229810	1.00[EUR][1000 genomes]
rs11229821	1.00[EUR][1000 genomes]
rs11229825	1.00[EUR][1000 genomes]
rs11229829	1.00[EUR][1000 genomes]
rs11229831	1.00[EUR][1000 genomes]
rs11229832	1.00[EUR][1000 genomes]
rs11229835	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11229836	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11229838	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11229841	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11229842	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11229843	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11229845	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11229847	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11229853	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11229858	0.91[ASN][1000 genomes]
rs11229862	0.81[ASN][1000 genomes]
rs12221768	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12222675	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12223085	1.00[ASN][1000 genomes]
rs12223473	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12225532	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12225972	1.00[ASN][1000 genomes]
rs17153381	1.00[EUR][1000 genomes]
rs2154626	1.00[EUR][1000 genomes]
rs2154627	1.00[EUR][1000 genomes]
rs2154964	1.00[EUR][1000 genomes]
rs2154965	1.00[EUR][1000 genomes]
rs35732637	1.00[EUR][1000 genomes]
rs55742277	1.00[EUR][1000 genomes]
rs56349021	1.00[EUR][1000 genomes]
rs57969871	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58277547	1.00[ASN][1000 genomes]
rs60519524	1.00[EUR][1000 genomes]
rs60795438	1.00[EUR][1000 genomes]
rs60883299	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050013	chr11:58394598-59221090	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv948365	chr11:58515163-59156405	Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	esv2758272	chr11:58700092-59008673	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv2759830	chr11:58700092-59008673	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
5	nsv430388	chr11:58769524-58925824	Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:58912800-58915200	Enhancers	Primary B cells from peripheral blood	blood
2	chr11:58912800-58916400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:58912800-58919400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr11:58912800-58919400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr11:58912800-58921400	Weak transcription	Esophagus	oesophagus
6	chr11:58912800-58924000	Weak transcription	Gastric	stomach
7	chr11:58912800-58924200	Weak transcription	Aorta	Aorta
8	chr11:58912800-58925800	Weak transcription	Ovary	ovary
9	chr11:58913000-58915600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr11:58913000-58915600	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr11:58913000-58915800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr11:58913000-58915800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr11:58913000-58915800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr11:58913000-58916200	Weak transcription	Placenta	Placenta
15	chr11:58913000-58916200	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr11:58913000-58919200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr11:58913000-58919400	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr11:58913000-58919400	Weak transcription	Colonic Mucosa	Colon
19	chr11:58913000-58922000	Weak transcription	Psoas Muscle	Psoas
20	chr11:58913000-58922600	Weak transcription	Small Intestine	intestine
21	chr11:58913000-58924600	Weak transcription	Stomach Smooth Muscle	stomach
22	chr11:58913000-58925800	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr11:58913200-58915800	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr11:58913200-58916200	Weak transcription	Liver	Liver
25	chr11:58913200-58916600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr11:58913200-58916600	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr11:58913200-58917600	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr11:58913200-58918200	Weak transcription	Rectal Smooth Muscle	rectum
29	chr11:58913200-58918800	Weak transcription	Fetal Muscle Trunk	muscle
30	chr11:58913200-58919200	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr11:58913200-58919200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr11:58913200-58921200	Weak transcription	Colon Smooth Muscle	Colon
33	chr11:58913200-58922200	Weak transcription	Fetal Stomach	stomach
34	chr11:58913200-58924400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr11:58913200-58925600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr11:58913200-58925600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr11:58913200-58925800	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr11:58913200-58925800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr11:58913200-58925800	Weak transcription	Brain Anterior Caudate	brain
40	chr11:58913400-58915800	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr11:58913400-58916000	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr11:58913400-58916000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr11:58913400-58916000	Weak transcription	Primary T cells from cord blood	blood
44	chr11:58913400-58916000	Weak transcription	Fetal Intestine Large	intestine
45	chr11:58913400-58916400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr11:58913400-58916400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr11:58913400-58916600	Weak transcription	Fetal Kidney	kidney
48	chr11:58913400-58916800	Weak transcription	A549	lung
49	chr11:58913400-58919200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr11:58913400-58919400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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