Variant report

Variant	rs17878708
Chromosome Location	chr11:102191337-102191338
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
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	POLR2A	chr11:102190809-102191798	GM12892	blood:	n/a	n/a
2	POLR2A	chr11:102191256-102192095	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr11:102189922-102192006	GM12878	blood:	n/a	n/a
4	MXI1	chr11:102191190-102191706	GM12878	blood:	n/a	n/a
5	POLR2A	chr11:102190862-102191844	GM12892	blood:	n/a	n/a
6	POLR2A	chr11:102189945-102191839	GM12878	blood:	n/a	n/a
7	WRNIP1	chr11:102190159-102191770	GM12878	blood:	n/a	n/a
8	POLR2A	chr11:102186998-102191851	GM19099	blood:	n/a	n/a
9	POLR2A	chr11:102191002-102191988	PANC-1	pancreas:	n/a	n/a
10	POLR2A	chr11:102187041-102191957	GM18505	blood:	n/a	n/a
11	POLR2A	chr11:102186808-102192224	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr11:102186909-102191988	GM12891	blood:	n/a	n/a
13	NR3C1	chr11:102191270-102191724	A549	lung:	n/a	n/a
14	POLR2A	chr11:102189943-102191912	GM12892	blood:	n/a	n/a
15	POLR2A	chr11:102187714-102191889	GM19193	blood:	n/a	n/a
16	POLR2A	chr11:102189906-102191906	PANC-1	pancreas:	n/a	n/a
17	POLR2A	chr11:102186664-102199529	GM12878	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:102191336-102191386	NHBE	bronchial:	n/a
2	chr11:102191336-102191386	HMEC	breast:	n/a
3	chr11:102191336-102191386	HCT-116	colon:	n/a
4	chr11:102191336-102191386	HEK293	kidney:	embryo
5	chr11:102191336-102191386	IMR90	lung:	fetal
6	chr11:102191336-102191386	Jurkat	blood:	n/a
7	chr11:102191336-102191386	ovcar-3	ovarian:	n/a
8	chr11:102191336-102191386	PFSK-1	brain:	n/a
9	chr11:102191336-102191386	AG10803	skin:	n/a
10	chr11:102191336-102191386	HPAEpiC	pulmonary alveolar:	n/a
11	chr11:102191336-102191386	GM12892	blood:	n/a
12	chr11:102191336-102191386	Hepatocyte	liver:	n/a
13	chr11:102191336-102191386	PANC-1	pancreas:	n/a
14	chr11:102191336-102191386	SK-N-SH_RA	brain:	n/a
15	chr11:102191336-102191386	H1-hESC	embryonic stem cell:	embryo
16	chr11:102191336-102191386	AG09309	skin:	n/a
17	chr11:102191336-102191386	GM12878	blood:	n/a
18	chr11:102191336-102191386	AG04449	skin:	fetal
19	chr11:102191336-102191386	HNPCEpiC	eye:	n/a
20	chr11:102191336-102191386	BJ	skin:	n/a
21	chr11:102191336-102191386	T-47D	breast:	n/a
22	chr11:102191336-102191386	LNCaP	prostate:	n/a
23	chr11:102191336-102191386	BE2_C	brain:	n/a
24	chr11:102191336-102191386	HIPEpiC	eye:	n/a
25	chr11:102191336-102191386	K562	blood:	n/a
26	chr11:102191336-102191386	SKMC	muscle:	n/a
27	chr11:102191336-102191386	Hela-S3	cervix:	n/a
28	chr11:102191336-102191386	U87	brain:	n/a
29	chr11:102191336-102191386	A549	lung:	n/a
30	chr11:102191336-102191386	HRCEpiC	kidney:	n/a
31	chr11:102191336-102191386	HCPEpiC	choroid plexus:	n/a
32	chr11:102191336-102191386	AoSMC	blood vessel:	n/a
33	chr11:102191336-102191386	NB4	blood:	n/a
34	chr11:102191336-102191386	NT2-D1	testis:	n/a
35	chr11:102191336-102191386	SK-N-MC	brain:	n/a
36	chr11:102191336-102191386	AG04450	lung:	fetal
37	chr11:102191336-102191386	Caco-2	colon:	n/a
38	chr11:102191336-102191386	HAEpiC	amniotic membrane:	n/a
39	chr11:102191336-102191386	GM19239	blood:	n/a
40	chr11:102191336-102191386	HRE	kidney:	n/a
41	chr11:102191336-102191386	PrEC	prostate:	n/a
42	chr11:102191336-102191386	HepG2	liver:	n/a
43	chr11:102191336-102191386	CMK	blood:	n/a
44	chr11:102191336-102191386	HCM	heart:	n/a
45	chr11:102191336-102191386	ECC-1	luminal epithelium:	n/a
46	chr11:102191336-102191386	HRPEpiC	eye:	n/a
47	chr11:102191336-102191386	HEEpiC	esophagus:	n/a
48	chr11:102191336-102191386	HL-60	blood:	n/a
49	chr11:102191336-102191386	MCF10A-Er-Src	breast:	n/a
50	chr11:102191336-102191386	RPTEC	kidney:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:102190377..102192046-chr11:102220523..102222803,2	MCF-7	breast:
2	chr11:102189545..102191637-chr11:102216334..102218108,2	K562	blood:
3	chr11:102191111..102193530-chr11:102215837..102217502,2	MCF-7	breast:
4	chr11:102188890..102192492-chr11:102192509..102196398,3	MCF-7	breast:
5	chr11:102186513..102189172-chr11:102190893..102193034,2	K562	blood:

No data

Variant related genes	Relation type
BIRC3	TF binding region
BIRC3	CpG island
ENSG00000023445	Chromatin interaction
ENSG00000110330	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10501998	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10501999	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11225201	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11225202	0.92[ASN][1000 genomes]
rs11225203	0.92[ASN][1000 genomes]
rs11600522	0.92[ASN][1000 genomes]
rs11602147	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11606268	0.92[ASN][1000 genomes]
rs12098902	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12280343	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12576911	0.88[ASN][1000 genomes]
rs12787745	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12789170	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12794196	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17763827	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17763887	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17769417	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1894113	0.92[ASN][1000 genomes]
rs1894114	0.93[ASN][1000 genomes]
rs1894115	0.93[ASN][1000 genomes]
rs2408344	0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2511293	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2511295	0.92[ASN][1000 genomes]
rs2604526	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2604527	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2604533	0.92[ASN][1000 genomes]
rs2846848	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2846849	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2846857	0.92[ASN][1000 genomes]
rs2846858	0.93[ASN][1000 genomes]
rs2852879	0.92[ASN][1000 genomes]
rs2852880	0.89[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs2852881	0.91[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2852882	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2852891	0.99[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3132831	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35612369	0.89[ASN][1000 genomes]
rs58277500	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61893629	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7480738	0.92[ASN][1000 genomes]
rs7924744	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7928663	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7931341	0.89[ASN][1000 genomes]
rs7938790	0.89[ASN][1000 genomes]
rs9665961	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052348	chr11:101987090-102255753	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv556141	chr11:101988061-102207851	Weak transcription Genic enhancers Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv1050961	chr11:101993880-102253717	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv1051735	chr11:101993880-102255753	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv530646	chr11:102000840-102238992	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
6	esv3514195	chr11:102118479-102348362	Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	esv3514197	chr11:102118479-102348362	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:102187400-102191400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr11:102187400-102191400	Active TSS	GM12878-XiMat	blood
3	chr11:102187600-102192400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
4	chr11:102188200-102193800	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
5	chr11:102188400-102191400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
6	chr11:102188400-102192800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
7	chr11:102188800-102191400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr11:102188800-102193200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr11:102188800-102193200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr11:102188800-102216600	Weak transcription	HSMMtube	muscle
11	chr11:102189000-102191400	Weak transcription	Brain Hippocampus Middle	brain
12	chr11:102189000-102191600	Active TSS	Rectal Mucosa Donor 29	rectum
13	chr11:102189000-102193200	Weak transcription	NH-A	brain
14	chr11:102189200-102193600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr11:102189200-102194200	Transcr. at gene 5' and 3'	Primary B cells from cord blood	blood
16	chr11:102189200-102197600	Weak transcription	Fetal Intestine Small	intestine
17	chr11:102189400-102192800	Transcr. at gene 5' and 3'	Primary B cells from peripheral blood	blood
18	chr11:102189400-102193400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr11:102189400-102193600	Weak transcription	HSMM	muscle
20	chr11:102189400-102194200	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr11:102189400-102197400	Weak transcription	Adipose Nuclei	Adipose
22	chr11:102189400-102205800	Weak transcription	Psoas Muscle	Psoas
23	chr11:102189400-102216600	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr11:102189400-102216800	Weak transcription	Right Ventricle	heart
25	chr11:102189600-102191600	Enhancers	Colon Smooth Muscle	Colon
26	chr11:102189600-102192800	Weak transcription	NHDF-Ad	bronchial
27	chr11:102189600-102192800	Weak transcription	NHLF	lung
28	chr11:102189600-102193000	Weak transcription	NHEK	skin
29	chr11:102189600-102193600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr11:102189600-102193600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr11:102189600-102194400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr11:102189600-102200600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr11:102189600-102200800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr11:102189600-102200800	Weak transcription	Left Ventricle	heart
35	chr11:102189800-102191600	Enhancers	Stomach Mucosa	stomach
36	chr11:102189800-102192800	Weak transcription	Osteobl	bone
37	chr11:102189800-102194000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr11:102189800-102194400	Weak transcription	HMEC	breast
39	chr11:102189800-102196200	Weak transcription	Liver	Liver
40	chr11:102190000-102191400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
41	chr11:102190000-102191400	Flanking Active TSS	Thymus	Thymus
42	chr11:102190000-102191800	Enhancers	Spleen	Spleen
43	chr11:102190000-102196400	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
44	chr11:102190200-102191600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
45	chr11:102190200-102191800	Flanking Active TSS	Primary T cells from cord blood	blood
46	chr11:102190200-102192000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr11:102190400-102191400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr11:102190400-102193000	Enhancers	Fetal Thymus	thymus
49	chr11:102190600-102191800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
50	chr11:102190600-102192400	Active TSS	Breast Myoepithelial Primary Cells	Breast

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