Variant report

Variant	rs17097635
Chromosome Location	chr11:102184564-102184565
allele	A/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	IRF1	chr11:102182989-102184676	K562	blood:	n/a	chr11:102184334-102184347 chr11:102183652-102183666 chr11:102183650-102183660 chr11:102183646-102183660 chr11:102184335-102184345 chr11:102183642-102183662 chr11:102183648-102183668 chr11:102184329-102184346 chr11:102183649-102183660 chr11:102183649-102183662 chr11:102183654-102183665 chr11:102184334-102184345 chr11:102183649-102183662 chr11:102183644-102183658 chr11:102183644-102183665 chr11:102183648-102183659 chr11:102184331-102184348 chr11:102183649-102183663 chr11:102184334-102184347 chr11:102184334-102184347 chr11:102184335-102184349 chr11:102183644-102183661 chr11:102184334-102184346 chr11:102184331-102184345 chr11:102183656-102183666 chr11:102183644-102183654 chr11:102183648-102183662 chr11:102183649-102183662 chr11:102183650-102183664 chr11:102183638-102183655
2	MYC	chr11:102184475-102184675	MCF10A-Er-Src	breast:	n/a	n/a
3	BCLAF1	chr11:102183925-102184645	GM12878	blood:	n/a	chr11:102184336-102184345
4	STAT3	chr11:102184446-102184823	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:102183249..102185212-chr11:102186159..102188587,3	K562	blood:

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

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11225205	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs12272189	0.96[AFR][1000 genomes]
rs12273914	0.96[AFR][1000 genomes]
rs12277114	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs12278448	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs12278890	0.96[AFR][1000 genomes]
rs12278932	0.96[AFR][1000 genomes]
rs12278978	0.96[AFR][1000 genomes]
rs12279465	1.00[YRI][hapmap]
rs12280399	0.96[AFR][1000 genomes]
rs12280494	0.96[AFR][1000 genomes]
rs12280669	0.96[AFR][1000 genomes]
rs12284756	0.96[AFR][1000 genomes]
rs12286239	0.88[YRI][hapmap]
rs28393872	0.96[AFR][1000 genomes]
rs7121665	0.89[AFR][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:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:102176800-102187800	Weak transcription	Pancreas	Pancrea
2	chr11:102177000-102187800	Weak transcription	Spleen	Spleen
3	chr11:102177200-102187000	Weak transcription	Colonic Mucosa	Colon
4	chr11:102178200-102188000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr11:102178400-102187200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr11:102178400-102187800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr11:102181800-102187200	Enhancers	Primary B cells from peripheral blood	blood
8	chr11:102181800-102187200	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr11:102182000-102185600	Enhancers	Small Intestine	intestine
10	chr11:102182000-102187200	Enhancers	Primary B cells from cord blood	blood
11	chr11:102183000-102184600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr11:102183000-102185000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
13	chr11:102183200-102184800	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr11:102183200-102185400	Enhancers	Fetal Thymus	thymus
15	chr11:102183400-102184600	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr11:102183400-102184600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
17	chr11:102183400-102184600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr11:102183400-102184600	Active TSS	Right Atrium	heart
19	chr11:102183400-102184600	Active TSS	Skeletal Muscle Male	skeletal muscle
20	chr11:102183400-102184600	Active TSS	A549	lung
21	chr11:102183400-102184600	Flanking Active TSS	GM12878-XiMat	blood
22	chr11:102183400-102184800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
23	chr11:102183600-102185000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
24	chr11:102183600-102187000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr11:102183800-102184600	Enhancers	Primary hematopoietic stem cells	blood
26	chr11:102183800-102184600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
27	chr11:102183800-102184600	Active TSS	Aorta	Aorta
28	chr11:102183800-102184600	Flanking Active TSS	Liver	Liver
29	chr11:102183800-102184600	Flanking Active TSS	Duodenum Mucosa	Duodenum
30	chr11:102183800-102184800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
31	chr11:102183800-102185000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr11:102183800-102186200	Enhancers	Stomach Mucosa	stomach
33	chr11:102184000-102184600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr11:102184000-102184600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr11:102184000-102184600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
36	chr11:102184000-102184600	Flanking Active TSS	Adipose Nuclei	Adipose
37	chr11:102184000-102184600	Flanking Active TSS	Colon Smooth Muscle	Colon
38	chr11:102184000-102184600	Enhancers	Thymus	Thymus
39	chr11:102184000-102184600	Flanking Active TSS	HSMM	muscle
40	chr11:102184000-102184600	Flanking Active TSS	NHEK	skin
41	chr11:102184000-102184600	Flanking Active TSS	Osteobl	bone
42	chr11:102184000-102185000	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr11:102184000-102185600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr11:102184200-102184600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr11:102184200-102184600	Enhancers	Fetal Kidney	kidney
46	chr11:102184200-102184600	Active TSS	Rectal Smooth Muscle	rectum
47	chr11:102184200-102184600	Enhancers	HMEC	breast
48	chr11:102184200-102184800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr11:102184200-102184800	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr11:102184200-102185800	Enhancers	Breast Myoepithelial Primary Cells	Breast

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