Variant report

Variant	rs1570483
Chromosome Location	chr11:35195157-35195158
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	CEBPB	chr11:35194658-35195245	A549	lung:	n/a	chr11:35194988-35194999
2	POLR2A	chr11:35183594-35196893	GM12891	blood:	n/a	n/a
3	POLR2A	chr11:35195142-35196129	GM12892	blood:	n/a	n/a
4	POLR2A	chr11:35158320-35197578	PANC-1	pancreas:	n/a	n/a
5	NR2F2	chr11:35194654-35195184	HepG2	liver:	n/a	n/a
6	POLR2A	chr11:35193307-35197391	U87	brain:	n/a	n/a
7	CEBPB	chr11:35194716-35195178	Hela-S3	cervix:	n/a	chr11:35194988-35194999
8	POLR2A	chr11:35195063-35197391	U87	brain:	n/a	n/a
9	SP1	chr11:35194673-35195159	HepG2	liver:	n/a	n/a
10	POLR2A	chr11:35179026-35197500	U87	brain:	n/a	n/a
11	FOXA1	chr11:35194645-35195157	HepG2	liver:	n/a	chr11:35194938-35194950
12	POLR2A	chr11:35179020-35197506	U87	brain:	n/a	n/a
13	EP300	chr11:35194607-35195160	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr11:35194363-35195166	GM12892	blood:	n/a	n/a
15	MYC	chr11:35194838-35195525	MCF10A-Er-Src	breast:	n/a	n/a
16	CEBPB	chr11:35194754-35195181	HepG2	liver:	n/a	chr11:35194988-35194999

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:35193443..35196303-chr11:35198924..35201669,2	MCF-7	breast:

Variant related genes	Relation type
CD44	TF binding region

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1071695	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11033013	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs16926995	0.80[CHB][hapmap]
rs17445923	0.80[CHB][hapmap];0.87[MKK][hapmap]
rs17445972	0.80[CHB][hapmap];0.87[MKK][hapmap]
rs34443928	1.00[ASN][1000 genomes]
rs35605320	1.00[ASN][1000 genomes]
rs35861024	1.00[ASN][1000 genomes]
rs61881656	1.00[ASN][1000 genomes]
rs61881658	0.95[ASN][1000 genomes]
rs71480068	1.00[ASN][1000 genomes]
rs7952493	0.80[CHB][hapmap]

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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1570483	CD44	cis	lymphoblastoid	seeQTL

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:35161200-35197400	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
2	chr11:35172200-35196000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr11:35187800-35200800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr11:35188200-35196600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr11:35188400-35197000	Enhancers	Fetal Thymus	thymus
6	chr11:35188600-35195200	Weak transcription	Colonic Mucosa	Colon
7	chr11:35188600-35197000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr11:35188800-35196800	Genic enhancers	NHEK	skin
9	chr11:35189000-35196200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr11:35189000-35197200	Genic enhancers	NHDF-Ad	bronchial
11	chr11:35189400-35196000	Genic enhancers	Osteobl	bone
12	chr11:35189400-35197200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr11:35189400-35213800	Weak transcription	Right Ventricle	heart
14	chr11:35189400-35218800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr11:35189600-35195600	Weak transcription	Pancreas	Pancrea
16	chr11:35189600-35198200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr11:35189600-35204800	Weak transcription	Brain Hippocampus Middle	brain
18	chr11:35190200-35196400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr11:35190200-35200000	Weak transcription	Brain Anterior Caudate	brain
20	chr11:35190200-35204400	Weak transcription	Brain Substantia Nigra	brain
21	chr11:35190400-35195800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr11:35190400-35196400	Weak transcription	HSMMtube	muscle
23	chr11:35190400-35198200	Weak transcription	Left Ventricle	heart
24	chr11:35190600-35200400	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr11:35191000-35196800	Enhancers	Sigmoid Colon	Sigmoid Colon
26	chr11:35191000-35196800	Enhancers	Small Intestine	intestine
27	chr11:35191400-35197000	Enhancers	Dnd41	blood
28	chr11:35192200-35195600	Weak transcription	Psoas Muscle	Psoas
29	chr11:35192200-35202000	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr11:35192400-35195600	Weak transcription	Esophagus	oesophagus
31	chr11:35192400-35198000	Weak transcription	Fetal Stomach	stomach
32	chr11:35192600-35195400	Weak transcription	Stomach Smooth Muscle	stomach
33	chr11:35192600-35197000	Genic enhancers	HMEC	breast
34	chr11:35192800-35195400	Weak transcription	Rectal Smooth Muscle	rectum
35	chr11:35192800-35197400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr11:35193000-35195800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr11:35193000-35196200	Weak transcription	Aorta	Aorta
38	chr11:35193000-35197000	Enhancers	Hela-S3	cervix
39	chr11:35193200-35196800	Enhancers	Primary B cells from peripheral blood	blood
40	chr11:35193400-35197000	Flanking Active TSS	Primary T cells from cord blood	blood
41	chr11:35193600-35196800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr11:35193600-35196800	Enhancers	Placenta	Placenta
43	chr11:35193600-35197400	Enhancers	Primary monocytes fromperipheralblood	blood
44	chr11:35193800-35196400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
45	chr11:35193800-35196600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
46	chr11:35194000-35195200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr11:35194000-35195600	Enhancers	Primary hematopoietic stem cells	blood
48	chr11:35194000-35195600	Weak transcription	Spleen	Spleen
49	chr11:35194000-35195600	Enhancers	NHLF	lung
50	chr11:35194000-35196600	Enhancers	ES-I3 Cell Line	embryonic stem cell

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