Variant report

Variant	rs17032847
Chromosome Location	chr2:99125470-99125471
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:99119306..99122236-chr2:99124547..99127818,4	MCF-7	breast:
2	chr2:99124298..99126771-chr2:99127183..99129014,2	K562	blood:
3	chr2:99124187..99127172-chr2:99129019..99132025,3	K562	blood:
4	chr2:99119880..99121608-chr2:99124862..99126749,2	MCF-7	breast:
5	chr2:99079622..99082074-chr2:99124173..99125944,2	K562	blood:
6	chr2:99114971..99120077-chr2:99122258..99125912,6	K562	blood:
7	chr2:99118086..99120077-chr2:99123851..99125912,3	K562	blood:

Extended variants
information (count: 21 )
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]
rs17032916	1.00[YRI][hapmap];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:6 , 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	nsv1007244	chr2:99063753-99136472	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99101600-99131400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:99112200-99130600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr2:99114000-99137600	Weak transcription	Fetal Intestine Large	intestine
4	chr2:99114400-99131200	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr2:99114400-99154000	Weak transcription	HepG2	liver
6	chr2:99115000-99135000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr2:99116600-99137800	Weak transcription	Fetal Brain Female	brain
8	chr2:99116800-99135600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr2:99117200-99131200	Weak transcription	Fetal Kidney	kidney
10	chr2:99118000-99126000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr2:99118000-99129400	Genic enhancers	Primary T cells from cord blood	blood
12	chr2:99118200-99126000	Enhancers	Brain Anterior Caudate	brain
13	chr2:99118200-99126200	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr2:99118600-99125800	Enhancers	Colon Smooth Muscle	Colon
15	chr2:99119000-99126000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr2:99119200-99126400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr2:99119200-99137400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr2:99119400-99130600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr2:99119400-99131400	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr2:99119600-99131400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr2:99120200-99126800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr2:99120600-99131200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr2:99120600-99131400	Weak transcription	Dnd41	blood
24	chr2:99121400-99131200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr2:99121400-99135800	Weak transcription	Aorta	Aorta
26	chr2:99121600-99155400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:99121800-99125800	Enhancers	Duodenum Smooth Muscle	Duodenum
28	chr2:99121800-99136400	Weak transcription	Gastric	stomach
29	chr2:99122000-99130800	Weak transcription	Ovary	ovary
30	chr2:99122000-99131400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr2:99122200-99126000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr2:99122200-99135800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr2:99122600-99125600	Enhancers	Left Ventricle	heart
34	chr2:99122600-99125800	Enhancers	Brain Substantia Nigra	brain
35	chr2:99122600-99125800	Enhancers	Placenta	Placenta
36	chr2:99122600-99126600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr2:99122600-99129000	Genic enhancers	Primary T cells fromperipheralblood	blood
38	chr2:99122800-99126600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
39	chr2:99123000-99125800	Enhancers	Adipose Nuclei	Adipose
40	chr2:99123000-99126400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
41	chr2:99123000-99127000	Enhancers	Right Atrium	heart
42	chr2:99123200-99125600	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
43	chr2:99123200-99126600	Genic enhancers	Fetal Thymus	thymus
44	chr2:99123200-99154400	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr2:99123600-99125800	Enhancers	Brain Angular Gyrus	brain
46	chr2:99123600-99134800	Enhancers	Primary T helper naive cells from peripheral blood	blood
47	chr2:99123800-99125800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr2:99123800-99126600	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr2:99123800-99136200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr2:99124000-99125600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood

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