Variant report

Variant	rs4938717
Chromosome Location	chr11:119576911-119576912
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	TEAD4	chr11:119576838-119577072	A549	lung:	n/a	n/a
2	REST	chr11:119576751-119577136	H1-hESC	embryonic stem cell:	n/a	chr11:119576947-119576967 chr11:119576947-119576967
3	GATA3	chr11:119576752-119577116	T-47D	breast:	n/a	chr11:119576979-119576990
4	REST	chr11:119576773-119577109	SK-N-SH	brain:	n/a	chr11:119576947-119576967 chr11:119576947-119576967
5	REST	chr11:119576746-119577181	PFSK-1	brain:	n/a	chr11:119576947-119576967 chr11:119576947-119576967
6	REST	chr11:119576729-119577117	H1-hESC	embryonic stem cell:	n/a	chr11:119576947-119576967 chr11:119576947-119576967
7	REST	chr11:119576793-119577154	PFSK-1	brain:	n/a	chr11:119576947-119576967 chr11:119576947-119576967
8	GATA3	chr11:119576628-119577234	MCF-7	breast:	n/a	chr11:119576979-119576990 chr11:119576746-119576757
9	REST	chr11:119576852-119577030	K562	blood:	n/a	chr11:119576947-119576967 chr11:119576947-119576967
10	PAX5	chr11:119576765-119577054	GM12878	blood:	n/a	n/a
11	REST	chr11:119576749-119577180	MCF-7	breast:	n/a	chr11:119576947-119576967 chr11:119576947-119576967
12	REST	chr11:119576806-119577107	Hela-S3	cervix:	n/a	chr11:119576947-119576967 chr11:119576947-119576967
13	REST	chr11:119576752-119577086	Hela-S3	cervix:	n/a	chr11:119576947-119576967 chr11:119576947-119576967
14	PAX5	chr11:119576771-119577104	GM12878	blood:	n/a	n/a
15	KAP1	chr11:119576806-119577221	U2OS	brain:	n/a	n/a
16	REST	chr11:119576757-119577209	HL-60	blood:	n/a	chr11:119576947-119576967 chr11:119576947-119576967
17	TCF7L2	chr11:119576715-119577255	HEK293	kidney:	n/a	chr11:119576977-119576991
18	REST	chr11:119576873-119577028	HepG2	liver:	n/a	chr11:119576947-119576967 chr11:119576947-119576967
19	REST	chr11:119576878-119577053	GM12878	blood:	n/a	chr11:119576947-119576967 chr11:119576947-119576967
20	REST	chr11:119576823-119577084	SK-N-SH	brain:	n/a	chr11:119576947-119576967 chr11:119576947-119576967
21	REST	chr11:119576712-119577320	ECC-1	luminal epithelium:	n/a	chr11:119576947-119576967 chr11:119576947-119576967
22	GATA3	chr11:119576783-119577087	T-47D	breast:	n/a	chr11:119576979-119576990
23	REST	chr11:119576857-119577024	GM12878	blood:	n/a	chr11:119576947-119576967 chr11:119576947-119576967
24	REST	chr11:119576738-119577185	MCF-7	breast:	n/a	chr11:119576947-119576967 chr11:119576947-119576967
25	TCF7L2	chr11:119576790-119577186	MCF-7	breast:	n/a	chr11:119576977-119576991
26	REST	chr11:119576725-119577129	PANC-1	pancreas:	n/a	chr11:119576947-119576967 chr11:119576947-119576967
27	REST	chr11:119576863-119577028	GM12878	blood:	n/a	chr11:119576947-119576967 chr11:119576947-119576967
28	REST	chr11:119576691-119577196	GM12878	blood:	n/a	chr11:119576947-119576967 chr11:119576947-119576967
29	REST	chr11:119576726-119577208	ECC-1	luminal epithelium:	n/a	chr11:119576947-119576967 chr11:119576947-119576967
30	REST	chr11:119576815-119577137	HepG2	liver:	n/a	chr11:119576947-119576967 chr11:119576947-119576967
31	REST	chr11:119576741-119577187	PANC-1	pancreas:	n/a	chr11:119576947-119576967 chr11:119576947-119576967
32	REST	chr11:119576569-119577438	HL-60	blood:	n/a	chr11:119576947-119576967 chr11:119576947-119576967
33	REST	chr11:119576823-119577120	K562	blood:	n/a	chr11:119576947-119576967 chr11:119576947-119576967
34	KAP1	chr11:119576891-119577270	HEK293	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:119576493..119579043-chr11:119584398..119586423,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255247	TF binding region

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

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs35301288	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898421	chr11:119499014-119631325	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv898422	chr11:119518006-119601779	Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv898423	chr11:119541332-119659753	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv468880	chr11:119564496-119588062	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv556471	chr11:119564496-119588062	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1051769	chr11:119572865-119630769	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:119561000-119580600	Weak transcription	Fetal Kidney	kidney
2	chr11:119561800-119577600	Enhancers	Brain Hippocampus Middle	brain
3	chr11:119562000-119578400	Enhancers	Duodenum Mucosa	Duodenum
4	chr11:119563200-119578400	Genic enhancers	Fetal Intestine Small	intestine
5	chr11:119564200-119578400	Enhancers	Fetal Intestine Large	intestine
6	chr11:119565200-119582600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr11:119567400-119579000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr11:119568000-119580600	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr11:119568400-119580600	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr11:119568400-119587000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr11:119568600-119580600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr11:119568600-119580600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr11:119568600-119590400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr11:119570000-119579200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr11:119571800-119579600	Weak transcription	NH-A	brain
16	chr11:119571800-119580000	Weak transcription	Colonic Mucosa	Colon
17	chr11:119572200-119577800	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr11:119572600-119592000	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr11:119572800-119577600	Weak transcription	Right Ventricle	heart
20	chr11:119572800-119580000	Weak transcription	Lung	lung
21	chr11:119573000-119577600	Weak transcription	HepG2	liver
22	chr11:119573000-119578000	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr11:119573000-119591800	Weak transcription	Left Ventricle	heart
24	chr11:119573200-119580600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr11:119573600-119578200	Weak transcription	Adipose Nuclei	Adipose
26	chr11:119573800-119579600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr11:119574000-119580000	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr11:119574000-119583200	Weak transcription	Placenta	Placenta
29	chr11:119574000-119597200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr11:119574200-119577000	Weak transcription	Brain Angular Gyrus	brain
31	chr11:119574200-119579600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr11:119574200-119580000	Weak transcription	HSMM	muscle
33	chr11:119574200-119580200	Weak transcription	Spleen	Spleen
34	chr11:119574400-119579800	Weak transcription	Fetal Muscle Leg	muscle
35	chr11:119574600-119577600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr11:119574800-119577600	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr11:119574800-119580000	Weak transcription	Brain Anterior Caudate	brain
38	chr11:119575000-119577000	Weak transcription	Brain Substantia Nigra	brain
39	chr11:119575000-119577000	Weak transcription	Pancreas	Pancrea
40	chr11:119575200-119577600	Enhancers	Brain Germinal Matrix	brain
41	chr11:119575200-119591600	Weak transcription	Stomach Smooth Muscle	stomach
42	chr11:119575400-119577800	Enhancers	Stomach Mucosa	stomach
43	chr11:119575600-119577000	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr11:119575800-119577800	Enhancers	Fetal Thymus	thymus
45	chr11:119575800-119578000	Enhancers	Small Intestine	intestine
46	chr11:119576000-119578000	Enhancers	Esophagus	oesophagus
47	chr11:119576000-119580600	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr11:119576200-119577000	Enhancers	Primary monocytes fromperipheralblood	blood
49	chr11:119576400-119577200	Enhancers	Fetal Brain Male	brain
50	chr11:119576400-119577600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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