Variant report

Variant	rs11212556
Chromosome Location	chr11:108090062-108090063
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr11:108089675-108090122	K562	blood:	n/a	n/a
2	ELF1	chr11:108089769-108090221	K562	blood:	n/a	n/a
3	POLR2A	chr11:108089648-108090136	GM12892	blood:	n/a	n/a
4	NR2F2	chr11:108089274-108090273	K562	blood:	n/a	n/a
5	POLR2A	chr11:108089721-108090195	K562	blood:	n/a	n/a
6	UBTF	chr11:108089863-108090142	K562	blood:	n/a	n/a
7	YY1	chr11:108089783-108090064	K562	blood:	n/a	n/a
8	WRNIP1	chr11:108089651-108090228	GM12878	blood:	n/a	n/a
9	SIN3A	chr11:108089852-108090200	H1-hESC	embryonic stem cell:	n/a	n/a
10	RCOR1	chr11:108089787-108090121	K562	blood:	n/a	n/a
11	POLR2A	chr11:108089692-108090195	K562	blood:	n/a	n/a
12	MYC	chr11:108089847-108090186	K562	blood:	n/a	n/a
13	POLR2A	chr11:108089689-108090176	GM12892	blood:	n/a	n/a
14	MAX	chr11:108089665-108090133	K562	blood:	n/a	n/a
15	POLR2A	chr11:108089652-108090153	GM12892	blood:	n/a	n/a
16	CEBPB	chr11:108090062-108090089	K562	blood:	n/a	n/a
17	POLR2A	chr11:108089866-108090119	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:108090058..108092133-chr11:108101877..108104641,2	K562	blood:
2	chr11:108089780..108091711-chr11:108095775..108097725,2	MCF-7	breast:
3	chr11:108062624..108065338-chr11:108088308..108091016,2	K562	blood:
4	chr11:108090010..108092398-chr11:108154692..108157090,2	K562	blood:
5	chr11:108089572..108092261-chr11:108170855..108173467,2	K562	blood:
6	chr11:107991146..107993770-chr11:108087993..108092186,3	K562	blood:
7	chr11:108069760..108073247-chr11:108087565..108091000,4	K562	blood:

No data

Variant related genes	Relation type
ATM	TF binding region
ENSG00000255467	Chromatin interaction
ENSG00000075239	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10160256	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10160616	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11212521	1.00[AMR][1000 genomes]
rs11212550	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11821820	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11827088	1.00[AMR][1000 genomes]
rs11827378	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11827907	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12270077	1.00[AMR][1000 genomes]
rs12271846	1.00[AMR][1000 genomes]
rs12272177	1.00[AMR][1000 genomes]
rs12280709	1.00[AMR][1000 genomes]
rs12282185	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12293027	1.00[AFR][1000 genomes]
rs3092853	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35095430	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57663127	1.00[AMR][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	nsv533794	chr11:107349817-108093259	Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv898383	chr11:108068954-108251211	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:108062600-108090800	Weak transcription	Colon Smooth Muscle	Colon
2	chr11:108071000-108091600	Weak transcription	Right Atrium	heart
3	chr11:108071400-108092400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr11:108074400-108090800	Weak transcription	Small Intestine	intestine
5	chr11:108078000-108090400	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr11:108078000-108090600	Weak transcription	Fetal Heart	heart
7	chr11:108078400-108091800	Weak transcription	HSMMtube	muscle
8	chr11:108078600-108090600	Weak transcription	Aorta	Aorta
9	chr11:108078600-108090800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr11:108078600-108090800	Weak transcription	Brain Substantia Nigra	brain
11	chr11:108078600-108091600	Weak transcription	Right Ventricle	heart
12	chr11:108078600-108091800	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr11:108078600-108091800	Weak transcription	Lung	lung
14	chr11:108078600-108092200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr11:108078600-108092200	Weak transcription	Esophagus	oesophagus
16	chr11:108078800-108091400	Weak transcription	Adipose Nuclei	Adipose
17	chr11:108078800-108092200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr11:108079000-108090800	Weak transcription	Brain Anterior Caudate	brain
19	chr11:108079000-108091000	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr11:108079200-108090400	Weak transcription	Rectal Smooth Muscle	rectum
21	chr11:108079200-108090600	Weak transcription	NHLF	lung
22	chr11:108079200-108091400	Weak transcription	NH-A	brain
23	chr11:108079200-108091800	Weak transcription	Brain Angular Gyrus	brain
24	chr11:108079200-108091800	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr11:108079600-108091800	Weak transcription	Colonic Mucosa	Colon
26	chr11:108081400-108091800	Weak transcription	HSMM	muscle
27	chr11:108081600-108091400	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr11:108081600-108091600	Weak transcription	Stomach Smooth Muscle	stomach
29	chr11:108081800-108090600	Weak transcription	Brain Cingulate Gyrus	brain
30	chr11:108081800-108091000	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr11:108081800-108091600	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr11:108081800-108091600	Weak transcription	A549	lung
33	chr11:108081800-108092200	Weak transcription	Fetal Muscle Trunk	muscle
34	chr11:108082000-108091600	Weak transcription	Placenta	Placenta
35	chr11:108082200-108091800	Weak transcription	Ovary	ovary
36	chr11:108082800-108091600	Weak transcription	Fetal Kidney	kidney
37	chr11:108083000-108090600	Weak transcription	Fetal Brain Female	brain
38	chr11:108083600-108090200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr11:108083600-108090800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr11:108083800-108091000	Weak transcription	Duodenum Mucosa	Duodenum
41	chr11:108084000-108090600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr11:108084000-108090800	Weak transcription	Thymus	Thymus
43	chr11:108084000-108091800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr11:108084000-108092600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr11:108084600-108091600	Weak transcription	Fetal Intestine Large	intestine
46	chr11:108084800-108090800	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr11:108084800-108091400	Enhancers	Primary T killer memory cells from peripheral blood	blood
48	chr11:108085000-108090600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr11:108085000-108090800	Weak transcription	Fetal Intestine Small	intestine
50	chr11:108085000-108091400	Weak transcription	Fetal Muscle Leg	muscle

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