Variant report

Variant	rs568722037
Chromosome Location	chr11:120174849-120174850
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:120174820-120174970	BE2_C	brain:	n/a	n/a
2	CTCF	chr11:120174820-120174970	GM12864	blood:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:120172949..120175534-chr2:55468115..55470994,2	MCF-7	breast:
2	chr11:119986921..119988576-chr11:120173602..120175252,2	MCF-7	breast:
3	chr11:120101055..120116563-chr11:120160593..120179156,52	K562	blood:
4	chr11:120171583..120174537-chr11:120174642..120177317,2	MCF-7	breast:
5	chr11:120099434..120101938-chr11:120172403..120174898,2	K562	blood:
6	chr11:120104352..120110604-chr11:120164438..120175098,43	MCF-7	breast:
7	chr11:120173473..120178843-chr11:120183667..120189130,9	MCF-7	breast:
8	chr11:120172447..120175021-chr11:120193864..120196695,3	MCF-7	breast:
9	chr11:120174600..120176592-chr11:120196059..120198854,2	K562	blood:
10	chr11:120104420..120112680-chr11:120168705..120181524,41	K562	blood:
11	chr11:120104320..120113596-chr11:120167938..120177639,38	MCF-7	breast:
12	chr11:120173019..120175401-chr11:120178309..120180098,2	MCF-7	breast:

No data

Variant related genes	Relation type
POU2F3	TF binding region
ENSG00000137699	Chromatin interaction
ENSG00000181264	Chromatin interaction
ENSG00000137709	Chromatin interaction

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	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	nsv522706	chr11:120173845-120178632	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120169600-120178200	Enhancers	Placenta	Placenta
2	chr11:120170800-120175200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr11:120170800-120175200	Weak transcription	Small Intestine	intestine
4	chr11:120170800-120175800	Weak transcription	A549	lung
5	chr11:120170800-120176200	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr11:120170800-120176200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr11:120171200-120175400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr11:120172000-120177600	Enhancers	Stomach Mucosa	stomach
9	chr11:120172200-120177600	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr11:120172400-120178200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr11:120173000-120175400	Enhancers	NHEK	skin
12	chr11:120173200-120176800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr11:120173200-120181200	Weak transcription	Fetal Intestine Large	intestine
14	chr11:120173400-120175200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr11:120173400-120176200	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr11:120173400-120177000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr11:120173800-120175000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr11:120173800-120175800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr11:120173800-120175800	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr11:120173800-120175800	Weak transcription	Gastric	stomach
21	chr11:120173800-120175800	Weak transcription	Pancreas	Pancrea
22	chr11:120173800-120177800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr11:120173800-120177800	Weak transcription	Lung	lung
24	chr11:120173800-120181200	Weak transcription	Fetal Intestine Small	intestine
25	chr11:120174000-120175800	Weak transcription	Colonic Mucosa	Colon
26	chr11:120174000-120175800	Weak transcription	Duodenum Mucosa	Duodenum
27	chr11:120174000-120175800	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr11:120174200-120177200	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr11:120174400-120176400	Enhancers	GM12878-XiMat	blood
30	chr11:120174600-120178000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr11:120174600-120178000	Enhancers	HMEC	breast
32	chr11:120174800-120175400	Weak transcription	NHLF	lung
33	chr11:120174800-120175800	Weak transcription	Esophagus	oesophagus
34	chr11:120174800-120178000	Enhancers	Hela-S3	cervix
35	chr11:120174800-120178200	Enhancers	ES-I3 Cell Line	embryonic stem cell

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