Variant report

Variant	rs17032916
Chromosome Location	chr2:99139741-99139742
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:99061003..99063481-chr2:99139125..99141607,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000040933	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10184555	1.00[AMR][1000 genomes]
rs13007839	0.94[AFR][1000 genomes]
rs13395005	1.00[AMR][1000 genomes]
rs13429817	1.00[AMR][1000 genomes]
rs17021866	1.00[AMR][1000 genomes]
rs17031804	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17031889	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17031912	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17031975	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17032010	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17032806	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17032843	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17032847	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28569147	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9631039	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv518056	chr2:98586842-99156296	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1006328	chr2:98977192-99210376	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1013941	chr2:99116255-99317933	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv535834	chr2:99116255-99317933	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS 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	18 gene(s)	inside rSNPs	diseases
5	nsv2840	chr2:99116934-99162190	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99114400-99154000	Weak transcription	HepG2	liver
2	chr2:99121600-99155400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:99123200-99154400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr2:99125200-99144000	Weak transcription	Primary B cells from peripheral blood	blood
5	chr2:99125400-99143600	Weak transcription	Brain Germinal Matrix	brain
6	chr2:99125600-99140600	Weak transcription	Fetal Heart	heart
7	chr2:99126200-99162000	Weak transcription	Small Intestine	intestine
8	chr2:99127000-99176800	Weak transcription	Right Atrium	heart
9	chr2:99131400-99154800	Weak transcription	Fetal Kidney	kidney
10	chr2:99131600-99150000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr2:99131800-99141600	Weak transcription	Primary hematopoietic stem cells	blood
12	chr2:99131800-99143400	Weak transcription	HSMMtube	muscle
13	chr2:99131800-99149800	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr2:99131800-99152200	Weak transcription	HSMM	muscle
15	chr2:99131800-99154600	Weak transcription	NH-A	brain
16	chr2:99131800-99154600	Weak transcription	Osteobl	bone
17	chr2:99132200-99143400	Weak transcription	A549	lung
18	chr2:99132400-99152400	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr2:99132400-99152400	Weak transcription	Placenta	Placenta
20	chr2:99132400-99153800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr2:99132400-99154000	Weak transcription	Brain Cingulate Gyrus	brain
22	chr2:99132600-99144800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr2:99132600-99154200	Weak transcription	Brain Angular Gyrus	brain
24	chr2:99133000-99140200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr2:99133000-99152200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr2:99133000-99176400	Weak transcription	Psoas Muscle	Psoas
27	chr2:99133200-99149800	Weak transcription	Brain Hippocampus Middle	brain
28	chr2:99134200-99140600	Weak transcription	Stomach Mucosa	stomach
29	chr2:99134200-99152600	Weak transcription	NHDF-Ad	bronchial
30	chr2:99134200-99156600	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr2:99134400-99154000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr2:99134400-99169400	Weak transcription	NHLF	lung
33	chr2:99134800-99142200	Strong transcription	Primary T cells from cord blood	blood
34	chr2:99134800-99142200	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr2:99134800-99143400	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr2:99135000-99143200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr2:99135000-99150000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr2:99135200-99141200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr2:99135400-99141600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr2:99135400-99142800	Strong transcription	Primary T cells fromperipheralblood	blood
41	chr2:99135400-99155600	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr2:99135600-99142200	Strong transcription	Primary T helper cells PMA-I stimulated	--
43	chr2:99135600-99142600	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr2:99135600-99152600	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr2:99135600-99154000	Weak transcription	Esophagus	oesophagus
46	chr2:99135800-99139800	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr2:99135800-99152400	Weak transcription	Colon Smooth Muscle	Colon
48	chr2:99136000-99141800	Strong transcription	Fetal Thymus	thymus
49	chr2:99136000-99145200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr2:99136000-99153600	Weak transcription	Rectal Smooth Muscle	rectum

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