Variant report

Variant	rs1941410
Chromosome Location	chr11:120171165-120171166
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	RAD21	chr11:120170458-120171212	MCF-7	breast:	n/a	n/a
2	CTCF	chr11:120171100-120171250	GM12875	blood:	n/a	n/a
3	CTCF	chr11:120170577-120171215	HCT-116	colon:	n/a	chr11:120170860-120170878 chr11:120170855-120170876
4	REST	chr11:120170434-120171173	H1-neurons	neurons:	n/a	n/a
5	CTCF	chr11:120170373-120171272	HCT-116	colon:	n/a	chr11:120170860-120170878 chr11:120170855-120170876
6	CTCF	chr11:120170536-120171273	A549	lung:	n/a	chr11:120170860-120170878 chr11:120170855-120170876
7	CTCF	chr11:120170438-120171267	SK-N-SH	brain:	n/a	chr11:120170860-120170878 chr11:120170855-120170876
8	RAD21	chr11:120169903-120171287	SK-N-SH	brain:	n/a	n/a
9	SMC3	chr11:120169886-120171278	SK-N-SH	brain:	n/a	n/a
10	RAD21	chr11:120170473-120171198	HCT-116	colon:	n/a	n/a
11	CTCF	chr11:120171132-120171206	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:119992154..119994463-chr11:120170248..120173038,2	MCF-7	breast:
2	chr11:120101055..120116563-chr11:120160593..120179156,52	K562	blood:
3	chr11:120104352..120110604-chr11:120164438..120175098,43	MCF-7	breast:
4	chr11:120149912..120152911-chr11:120168871..120171487,3	K562	blood:
5	chr11:120104850..120106373-chr11:120170312..120171433,18	MCF-7	breast:
6	chr11:120099751..120100618-chr11:120170383..120171309,2	K562	blood:
7	chr11:120104420..120112680-chr11:120168705..120181524,41	K562	blood:
8	chr11:120104320..120113596-chr11:120167938..120177639,38	MCF-7	breast:
9	chr11:120111108..120111706-chr11:120170386..120171294,4	K562	blood:
10	chr11:120105076..120106736-chr11:120169805..120171450,18	K562	blood:
11	chr11:120042758..120043591-chr11:120170404..120171318,5	K562	blood:

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

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11217806	0.83[CHB][hapmap];0.85[CHD][hapmap]
rs11217807	0.83[CHB][hapmap];0.83[CHD][hapmap]
rs2096884	0.95[JPT][hapmap]
rs2298579	0.89[CHB][hapmap];0.85[CHD][hapmap];0.81[JPT][hapmap]
rs4142654	0.83[CHB][hapmap];0.82[CHD][hapmap]

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	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

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120169600-120178200	Enhancers	Placenta	Placenta
2	chr11:120169800-120171200	Enhancers	NHEK	skin
3	chr11:120170000-120171200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr11:120170200-120171200	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr11:120170200-120171200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
6	chr11:120170200-120171400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr11:120170200-120171600	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr11:120170400-120171200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr11:120170600-120171200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr11:120170600-120171200	Enhancers	Liver	Liver
11	chr11:120170600-120171400	Enhancers	Aorta	Aorta
12	chr11:120170800-120172000	Weak transcription	Stomach Mucosa	stomach
13	chr11:120170800-120172200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr11:120170800-120172200	Weak transcription	Esophagus	oesophagus
15	chr11:120170800-120172200	Weak transcription	Gastric	stomach
16	chr11:120170800-120172200	Weak transcription	Lung	lung
17	chr11:120170800-120172200	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr11:120170800-120172200	Weak transcription	GM12878-XiMat	blood
19	chr11:120170800-120172400	Weak transcription	Fetal Intestine Large	intestine
20	chr11:120170800-120172400	Weak transcription	Fetal Intestine Small	intestine
21	chr11:120170800-120172600	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr11:120170800-120172600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr11:120170800-120172600	Weak transcription	Pancreas	Pancrea
24	chr11:120170800-120173200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr11:120170800-120173600	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr11:120170800-120174600	Weak transcription	HMEC	breast
27	chr11:120170800-120174800	Weak transcription	Hela-S3	cervix
28	chr11:120170800-120175200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr11:120170800-120175200	Weak transcription	Small Intestine	intestine
30	chr11:120170800-120175800	Weak transcription	A549	lung
31	chr11:120170800-120176200	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr11:120170800-120176200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr11:120171000-120172200	Weak transcription	Colonic Mucosa	Colon
34	chr11:120171000-120174000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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