Variant report

Variant	rs3794105
Chromosome Location	chr11:35200916-35200917
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:35197745-35203204	PANC-1	pancreas:	n/a	n/a
2	POLR2A	chr11:35197908-35203212	PANC-1	pancreas:	n/a	n/a
3	POLR2A	chr11:35200904-35201429	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr11:35197880-35203195	U87	brain:	n/a	n/a
5	POLR2A	chr11:35197784-35203201	U87	brain:	n/a	n/a
6	POLR2A	chr11:35198969-35201534	GM12892	blood:	n/a	n/a
7	POLR2A	chr11:35199437-35201574	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr11:35198885-35203035	GM12892	blood:	n/a	n/a
9	POLR2A	chr11:35198835-35203167	GM12891	blood:	n/a	n/a
10	POLR2A	chr11:35200332-35201517	A549	lung:	n/a	n/a
11	POLR2A	chr11:35200324-35201558	GM12892	blood:	n/a	n/a
12	POLR2A	chr11:35199668-35202263	GM12892	blood:	n/a	n/a
13	POLR2A	chr11:35198801-35203213	U87	brain:	n/a	n/a
14	POLR2A	chr11:35200867-35201499	GM12891	blood:	n/a	n/a
15	POLR2A	chr11:35200545-35201430	GM12891	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:35193443..35196303-chr11:35198924..35201669,2	MCF-7	breast:
2	chr11:35186608..35189447-chr11:35199235..35201624,2	MCF-7	breast:
3	chr11:35199491..35202638-chr11:35207456..35210593,3	MCF-7	breast:

No data

Variant related genes	Relation type
CD44	TF binding region
ENSG00000026508	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs2180974	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs353612	1.00[CHB][hapmap]
rs353629	0.82[CHB][hapmap]
rs353630	0.82[CHB][hapmap];1.00[CHD][hapmap]
rs353637	0.92[CEU][hapmap];0.82[CHB][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs353640	0.92[CEU][hapmap];0.82[CHB][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs353643	0.82[CHB][hapmap]
rs353646	0.92[CEU][hapmap];1.00[CHB][hapmap];0.90[MEX][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs353648	0.92[CEU][hapmap];1.00[CHB][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045837	chr11:34893992-35395190	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	esv2758263	chr11:35029933-35226784	Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	esv2759818	chr11:35029933-35238578	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv541001	chr11:35053717-35224624	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	esv2757437	chr11:35067482-35238578	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	esv2752912	chr11:35074167-35238578	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
7	nsv508623	chr11:35094933-35203363	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv541002	chr11:35101282-35224624	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
9	nsv541003	chr11:35122694-35261451	Genic enhancers Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
10	nsv541004	chr11:35122694-35297414	Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
11	esv3693078	chr11:35179651-35217745	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:35189400-35213800	Weak transcription	Right Ventricle	heart
2	chr11:35189400-35218800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr11:35189600-35204800	Weak transcription	Brain Hippocampus Middle	brain
4	chr11:35190200-35204400	Weak transcription	Brain Substantia Nigra	brain
5	chr11:35192200-35202000	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr11:35195000-35201200	Weak transcription	Right Atrium	heart
7	chr11:35195000-35211200	Weak transcription	Gastric	stomach
8	chr11:35195800-35201800	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr11:35195800-35213600	Weak transcription	Liver	Liver
10	chr11:35196000-35212200	Weak transcription	Fetal Intestine Small	intestine
11	chr11:35196400-35201600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr11:35196800-35201400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr11:35197000-35201800	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr11:35197000-35211600	Weak transcription	HUVEC	blood vessel
15	chr11:35197600-35202600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr11:35197800-35201400	Genic enhancers	Fetal Thymus	thymus
17	chr11:35198000-35201400	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
18	chr11:35198000-35202600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr11:35198000-35202600	Strong transcription	Fetal Stomach	stomach
20	chr11:35198000-35202800	Genic enhancers	Primary T cells fromperipheralblood	blood
21	chr11:35198000-35202800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr11:35198000-35203200	Genic enhancers	Osteobl	bone
23	chr11:35198000-35204400	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr11:35198000-35204400	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr11:35198000-35208400	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr11:35198000-35208600	Strong transcription	Fetal Muscle Trunk	muscle
27	chr11:35198000-35223600	Strong transcription	Dnd41	blood
28	chr11:35198000-35232800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr11:35198200-35201200	Genic enhancers	Primary neutrophils fromperipheralblood	blood
30	chr11:35198200-35201200	Strong transcription	Left Ventricle	heart
31	chr11:35198200-35202000	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
32	chr11:35198200-35202000	Strong transcription	Spleen	Spleen
33	chr11:35198200-35202600	Genic enhancers	HMEC	breast
34	chr11:35198200-35203000	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr11:35198200-35203000	Genic enhancers	NH-A	brain
36	chr11:35198200-35204600	Genic enhancers	NHLF	lung
37	chr11:35198200-35210000	Genic enhancers	NHDF-Ad	bronchial
38	chr11:35198200-35219800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
39	chr11:35198400-35202600	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr11:35198400-35202800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr11:35198400-35213000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr11:35198600-35201800	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr11:35198800-35201000	Genic enhancers	Primary monocytes fromperipheralblood	blood
44	chr11:35198800-35202400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr11:35198800-35202600	Genic enhancers	Fetal Muscle Leg	muscle
46	chr11:35198800-35203000	Genic enhancers	Muscle Satellite Cultured Cells	--
47	chr11:35198800-35204400	Genic enhancers	NHEK	skin
48	chr11:35199000-35201000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr11:35199000-35201000	Genic enhancers	Monocytes-CD14+_RO01746	blood
50	chr11:35199000-35201400	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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