Variant report

Variant	rs17030959
Chromosome Location	chr4:102153231-102153232
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:102152625..102154984-chr4:102158702..102160771,2	MCF-7	breast:
2	chr4:102151616..102153523-chr4:102648348..102650655,2	MCF-7	breast:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10004830	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10015480	1.00[EUR][1000 genomes]
rs10019627	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10027301	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17030807	1.00[MEX][hapmap]
rs17030915	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17030989	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28379119	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28421266	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28464050	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28491829	1.00[EUR][1000 genomes]
rs28534411	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28542998	1.00[EUR][1000 genomes]
rs28553282	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28614035	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28638143	1.00[EUR][1000 genomes]
rs28640942	1.00[EUR][1000 genomes]
rs28675750	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28723066	1.00[EUR][1000 genomes]
rs58084948	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58598913	1.00[EUR][1000 genomes]
rs58898502	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6811228	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs72919782	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72919785	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9998913	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931418	chr4:101500167-102443207	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv999741	chr4:102009017-102454115	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
3	nsv537199	chr4:102009017-102454115	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1004766	chr4:102009017-102713765	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
5	nsv537200	chr4:102009017-102713765	Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
6	nsv1011351	chr4:102056024-102450302	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:102146200-102154200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:102146200-102158800	Weak transcription	Gastric	stomach
3	chr4:102146400-102155000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr4:102146400-102162000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr4:102147600-102156400	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr4:102149200-102157200	Weak transcription	Primary B cells from cord blood	blood
7	chr4:102149400-102157200	Weak transcription	Primary B cells from peripheral blood	blood
8	chr4:102150000-102154600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr4:102150200-102153800	Enhancers	NHDF-Ad	bronchial
10	chr4:102150200-102154600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr4:102150400-102154600	Enhancers	Osteobl	bone
12	chr4:102151600-102153800	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr4:102151600-102154200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr4:102151800-102153800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr4:102151800-102154000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr4:102151800-102154000	Enhancers	Muscle Satellite Cultured Cells	--
17	chr4:102152000-102153800	Enhancers	NHLF	lung
18	chr4:102152000-102154000	Enhancers	HSMM	muscle
19	chr4:102152000-102157200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr4:102152200-102154400	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr4:102152200-102154600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr4:102152200-102159800	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr4:102152400-102158800	Weak transcription	Psoas Muscle	Psoas
24	chr4:102152400-102160200	Weak transcription	Aorta	Aorta
25	chr4:102152600-102153600	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr4:102152600-102154200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr4:102152600-102154400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr4:102152800-102153800	Enhancers	HSMMtube	muscle
29	chr4:102152800-102154600	Enhancers	HMEC	breast
30	chr4:102152800-102165600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr4:102153000-102153800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr4:102153000-102153800	Enhancers	Adipose Nuclei	Adipose
33	chr4:102153000-102153800	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr4:102153000-102153800	Enhancers	NH-A	brain
35	chr4:102153000-102154400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr4:102153000-102154600	Enhancers	NHEK	skin
37	chr4:102153000-102165600	Weak transcription	Brain Anterior Caudate	brain
38	chr4:102153000-102165600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr4:102153200-102153400	Active TSS	Ovary	ovary
40	chr4:102153200-102153600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr4:102153200-102153800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr4:102153200-102153800	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr4:102153200-102154200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr4:102153200-102154400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr4:102153200-102154800	Enhancers	A549	lung

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