Variant report

Variant	rs17031804
Chromosome Location	chr2:99064000-99064001
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	chr2:99060605..99063028-chr2:99063454..99065334,3	MCF-7	breast:
2	chr2:99063252..99065691-chr2:99066055..99068717,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000040933	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10184555	1.00[AMR][1000 genomes]
rs13007839	1.00[AFR][1000 genomes]
rs13395005	1.00[AMR][1000 genomes]
rs13429817	1.00[AMR][1000 genomes]
rs17021866	1.00[AMR][1000 genomes]
rs17031889	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17031912	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17031975	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17032010	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17032806	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17032843	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17032847	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17032916	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28569147	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9631039	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99061800-99064000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
2	chr2:99062000-99064000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr2:99062000-99064400	Flanking Active TSS	Dnd41	blood
4	chr2:99062400-99068400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr2:99062600-99064000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:99062600-99064400	Flanking Active TSS	Primary T cells from cord blood	blood
7	chr2:99062600-99068600	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr2:99062800-99064000	Enhancers	Primary hematopoietic stem cells	blood
9	chr2:99062800-99064400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
10	chr2:99062800-99066200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr2:99062800-99066600	Weak transcription	HMEC	breast
12	chr2:99062800-99070600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr2:99062800-99070800	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr2:99063000-99064000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
15	chr2:99063000-99064000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
16	chr2:99063000-99064000	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr2:99063000-99064000	Enhancers	Fetal Kidney	kidney
18	chr2:99063000-99064000	Enhancers	Rectal Smooth Muscle	rectum
19	chr2:99063000-99064200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
20	chr2:99063000-99064200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr2:99063000-99064200	Enhancers	K562	blood
22	chr2:99063000-99064400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
23	chr2:99063000-99065200	Weak transcription	Small Intestine	intestine
24	chr2:99063000-99065400	Weak transcription	Psoas Muscle	Psoas
25	chr2:99063000-99066600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr2:99063000-99066800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr2:99063000-99066800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr2:99063000-99067000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr2:99063000-99067000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr2:99063000-99067000	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr2:99063000-99067600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr2:99063000-99067600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr2:99063000-99067600	Weak transcription	Right Atrium	heart
34	chr2:99063000-99067600	Weak transcription	Right Ventricle	heart
35	chr2:99063000-99067600	Weak transcription	Stomach Mucosa	stomach
36	chr2:99063000-99068000	Weak transcription	Primary B cells from peripheral blood	blood
37	chr2:99063000-99068400	Weak transcription	Ovary	ovary
38	chr2:99063000-99068400	Weak transcription	Pancreas	Pancrea
39	chr2:99063000-99068600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr2:99063000-99068600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr2:99063000-99070600	Weak transcription	Placenta	Placenta
42	chr2:99063000-99071600	Weak transcription	Fetal Intestine Small	intestine
43	chr2:99063000-99071800	Weak transcription	Liver	Liver
44	chr2:99063200-99064000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
45	chr2:99063200-99064400	Enhancers	Fetal Brain Male	brain
46	chr2:99063200-99064800	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr2:99063200-99066600	Weak transcription	Colonic Mucosa	Colon
48	chr2:99063200-99070200	Weak transcription	Gastric	stomach
49	chr2:99063400-99064200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
50	chr2:99063400-99064200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood

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