Variant report

Variant	rs1876795
Chromosome Location	chr11:119596147-119596148
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:119595937-119596524	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:119596104-119596154	AG04449	skin:	fetal
2	chr11:119596104-119596154	AG10803	skin:	n/a
3	chr11:119596104-119596154	H1-hESC	embryonic stem cell:	embryo
4	chr11:119596104-119596154	AG09319	gingival:	n/a
5	chr11:119596104-119596154	Hela-S3	cervix:	n/a
6	chr11:119596104-119596154	ECC-1	luminal epithelium:	n/a
7	chr11:119596104-119596154	MCF10A-Er-Src	breast:	n/a
8	chr11:119596104-119596154	CMK	blood:	n/a
9	chr11:119596104-119596154	U87	brain:	n/a
10	chr11:119596104-119596154	Jurkat	blood:	n/a
11	chr11:119596104-119596154	HRPEpiC	eye:	n/a
12	chr11:119596104-119596154	NT2-D1	testis:	n/a
13	chr11:119596104-119596154	HRCEpiC	kidney:	n/a
14	chr11:119596104-119596154	HCPEpiC	choroid plexus:	n/a
15	chr11:119596104-119596154	GM06990	blood:	n/a
16	chr11:119596104-119596154	HepG2	liver:	n/a
17	chr11:119596104-119596154	SK-N-MC	brain:	n/a
18	chr11:119596104-119596154	HPAEpiC	pulmonary alveolar:	n/a
19	chr11:119596104-119596154	AoSMC	blood vessel:	n/a
20	chr11:119596104-119596154	PFSK-1	brain:	n/a
21	chr11:119596104-119596154	SK-N-SH_RA	brain:	n/a
22	chr11:119596104-119596154	SKMC	muscle:	n/a
23	chr11:119596104-119596154	HL-60	blood:	n/a
24	chr11:119596104-119596154	GM12878	blood:	n/a
25	chr11:119596104-119596154	HUVEC	blood vessel:	n/a
26	chr11:119596104-119596154	K562	blood:	n/a
27	chr11:119596104-119596154	HAEpiC	amniotic membrane:	n/a
28	chr11:119596104-119596154	HIPEpiC	eye:	n/a
29	chr11:119596104-119596154	HCF	heart:	n/a
30	chr11:119596104-119596154	LNCaP	prostate:	n/a
31	chr11:119596104-119596154	Caco-2	colon:	n/a
32	chr11:119596104-119596154	RPTEC	kidney:	n/a
33	chr11:119596104-119596154	NHBE	bronchial:	n/a
34	chr11:119596104-119596154	T-47D	breast:	n/a
35	chr11:119596104-119596154	HCT-116	colon:	n/a
36	chr11:119596104-119596154	Hepatocyte	liver:	n/a
37	chr11:119596104-119596154	BJ	skin:	n/a
38	chr11:119596104-119596154	BE2_C	brain:	n/a
39	chr11:119596104-119596154	SAEC	small airway:	n/a
40	chr11:119596104-119596154	HRE	kidney:	n/a
41	chr11:119596104-119596154	NB4	blood:	n/a
42	chr11:119596104-119596154	PrEC	prostate:	n/a
43	chr11:119596104-119596154	AG04450	lung:	fetal
44	chr11:119596104-119596154	HMEC	breast:	n/a
45	chr11:119596104-119596154	GM12892	blood:	n/a
46	chr11:119596104-119596154	HEEpiC	esophagus:	n/a
47	chr11:119596104-119596154	AG09309	skin:	n/a
48	chr11:119596104-119596154	ProgFib	skin:	n/a
49	chr11:119596104-119596154	NH-A	brain:	n/a
50	chr11:119596104-119596154	GM12891	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:119565895..119567556-chr11:119593844..119596406,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000254854	TF binding region
ENSG00000254854	CpG island

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10790339	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10892444	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10892445	0.81[CEU][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10892446	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11217426	0.85[CEU][hapmap];0.86[EUR][1000 genomes]
rs11217429	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11217430	0.88[EUR][1000 genomes]
rs11217434	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11217437	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11217438	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11217440	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11217441	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11217442	0.81[EUR][1000 genomes]
rs11217448	0.80[EUR][1000 genomes]
rs11607610	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12418662	0.85[CEU][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12421434	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12421466	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12786505	0.81[EUR][1000 genomes]
rs12793075	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12796806	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12797914	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12800445	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2136420	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2136421	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2368936	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35248712	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3829260	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4245206	0.96[CEU][hapmap];0.87[CHB][hapmap];0.86[JPT][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4489755	0.81[CEU][hapmap];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4505073	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4936496	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4938718	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4938719	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4938720	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58136657	0.81[EUR][1000 genomes]
rs6589770	0.81[EUR][1000 genomes]
rs73006720	0.81[EUR][1000 genomes]
rs7952366	0.85[CEU][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9666263	0.85[CEU][hapmap];0.82[AMR][1000 genomes];0.88[EUR][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	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	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
5	nsv1037739	chr11:119592989-119630641	Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:119574000-119597200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr11:119580800-119597000	Weak transcription	Lung	lung
3	chr11:119585200-119596600	Weak transcription	Primary B cells from cord blood	blood
4	chr11:119586400-119597600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr11:119588400-119596800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr11:119588600-119597400	Weak transcription	NH-A	brain
7	chr11:119589200-119596800	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr11:119589600-119597400	Weak transcription	Liver	Liver
9	chr11:119591200-119596400	Enhancers	H1 Cell Line	embryonic stem cell
10	chr11:119591200-119596600	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr11:119591400-119596800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr11:119591400-119597400	Weak transcription	Right Ventricle	heart
13	chr11:119591600-119597200	Genic enhancers	Fetal Intestine Small	intestine
14	chr11:119591800-119596800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:119591800-119597000	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr11:119592200-119597200	Weak transcription	Fetal Kidney	kidney
17	chr11:119592200-119597400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr11:119592600-119597000	Weak transcription	Spleen	Spleen
19	chr11:119592800-119597000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr11:119592800-119597000	Weak transcription	Adipose Nuclei	Adipose
21	chr11:119593000-119597000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr11:119593000-119597200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr11:119593400-119596400	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr11:119593400-119596800	Weak transcription	Colonic Mucosa	Colon
25	chr11:119593600-119597600	Weak transcription	Stomach Mucosa	stomach
26	chr11:119594000-119596400	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr11:119594000-119596800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr11:119594200-119596600	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr11:119594200-119596600	Enhancers	Fetal Brain Female	brain
30	chr11:119594200-119597000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr11:119594200-119597200	Enhancers	Primary neutrophils fromperipheralblood	blood
32	chr11:119594400-119596800	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr11:119594400-119597600	Enhancers	Fetal Intestine Large	intestine
34	chr11:119594600-119596800	Enhancers	H9 Cell Line	embryonic stem cell
35	chr11:119594600-119597000	Enhancers	Fetal Brain Male	brain
36	chr11:119594800-119596200	Enhancers	Brain Germinal Matrix	brain
37	chr11:119594800-119597200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr11:119595000-119596800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr11:119595000-119596800	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr11:119595000-119596800	Weak transcription	Fetal Heart	heart
41	chr11:119595000-119597400	Transcr. at gene 5' and 3'	NHEK	skin
42	chr11:119595200-119596400	Weak transcription	Gastric	stomach
43	chr11:119595200-119596800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr11:119595400-119596200	Flanking Active TSS	Brain Hippocampus Middle	brain
45	chr11:119595400-119596400	Enhancers	Duodenum Mucosa	Duodenum
46	chr11:119595400-119596400	Enhancers	HUVEC	blood vessel
47	chr11:119595400-119596600	Active TSS	GM12878-XiMat	blood
48	chr11:119595400-119596800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
49	chr11:119595400-119597800	Enhancers	HepG2	liver
50	chr11:119595600-119596200	Weak transcription	Rectal Mucosa Donor 29	rectum

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