Variant report

Variant	rs1893730
Chromosome Location	chr11:102338593-102338594
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:102320576..102325526-chr11:102337005..102343107,13	MCF-7	breast:
2	chr11:102321122..102328963-chr11:102333676..102341979,14	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255337	Chromatin interaction
ENSG00000152558	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs2019777	0.82[CEU][hapmap]
rs2096894	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs2155839	1.00[CEU][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3897655	0.95[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs4754846	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs562880	1.00[GIH][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6590961	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs721916	1.00[CEU][hapmap];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv1035567	chr11:102264516-102431607	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv898334	chr11:102272884-102353192	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS 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	7 gene(s)	inside rSNPs	diseases
5	nsv469990	chr11:102335609-102413943	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv556150	chr11:102335609-102415859	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv468854	chr11:102336617-102413943	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv556151	chr11:102336617-102413943	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:102324600-102344600	Weak transcription	Colonic Mucosa	Colon
2	chr11:102332400-102338600	Weak transcription	Brain Anterior Caudate	brain
3	chr11:102333200-102340800	Enhancers	Primary T cells from cord blood	blood
4	chr11:102334800-102339200	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr11:102334800-102345600	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr11:102335000-102338800	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr11:102335000-102339600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr11:102335000-102343200	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr11:102335000-102343200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr11:102335000-102343600	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr11:102335200-102338600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr11:102335200-102343400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr11:102335400-102342400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr11:102335600-102342000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr11:102336400-102338800	Enhancers	Rectal Mucosa Donor 29	rectum
16	chr11:102336400-102339800	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr11:102336600-102338600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr11:102336600-102341400	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr11:102336800-102339800	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr11:102337000-102338600	Enhancers	Duodenum Mucosa	Duodenum
21	chr11:102337000-102338600	Weak transcription	HUVEC	blood vessel
22	chr11:102337000-102339600	Enhancers	Fetal Thymus	thymus
23	chr11:102337000-102340000	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr11:102337000-102341400	Enhancers	Colon Smooth Muscle	Colon
25	chr11:102337000-102343000	Enhancers	Placenta	Placenta
26	chr11:102337200-102339600	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr11:102337200-102340000	Weak transcription	Primary B cells from cord blood	blood
28	chr11:102337200-102340200	Weak transcription	Primary B cells from peripheral blood	blood
29	chr11:102337200-102340600	Enhancers	Fetal Intestine Small	intestine
30	chr11:102337200-102340800	Enhancers	Placenta Amnion	Placenta Amnion
31	chr11:102337400-102339200	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr11:102337400-102339800	Weak transcription	Fetal Lung	lung
33	chr11:102337400-102339800	Enhancers	Stomach Mucosa	stomach
34	chr11:102337400-102340400	Enhancers	Fetal Intestine Large	intestine
35	chr11:102337400-102340800	Enhancers	Pancreas	Pancrea
36	chr11:102337400-102341000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr11:102337400-102341000	Enhancers	HepG2	liver
38	chr11:102337400-102342400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr11:102337400-102342600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr11:102337600-102339000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr11:102337600-102339600	Enhancers	NHEK	skin
42	chr11:102337600-102340600	Enhancers	Esophagus	oesophagus
43	chr11:102337600-102342800	Enhancers	HMEC	breast
44	chr11:102337800-102338800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr11:102337800-102340200	Enhancers	Rectal Smooth Muscle	rectum
46	chr11:102338000-102340000	Weak transcription	Thymus	Thymus
47	chr11:102338000-102340200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr11:102338000-102340200	Weak transcription	Gastric	stomach
49	chr11:102338000-102347000	Weak transcription	Small Intestine	intestine
50	chr11:102338200-102338600	Weak transcription	Primary hematopoietic stem cells	blood

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