Variant report

Variant	rs17021968
Chromosome Location	chr2:99451309-99451310
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:99352944..99355702-chr2:99450894..99453779,2	MCF-7	breast:
2	chr2:99449234..99452452-chr2:99458195..99461216,3	MCF-7	breast:
3	chr2:99344923..99349258-chr2:99450100..99455296,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000071073	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12616060	1.00[MEX][hapmap]
rs12616866	1.00[MEX][hapmap];0.82[AMR][1000 genomes]
rs12617554	0.82[AMR][1000 genomes]
rs12619244	0.82[AMR][1000 genomes]
rs12620812	0.82[AMR][1000 genomes]
rs12622445	1.00[MEX][hapmap]
rs1983353	1.00[ASW][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.96[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs35979410	0.82[AMR][1000 genomes]
rs56943554	0.82[AMR][1000 genomes]
rs57480100	0.82[AMR][1000 genomes]
rs61419135	0.82[AMR][1000 genomes]
rs61552487	0.82[AMR][1000 genomes]
rs61604726	0.82[AMR][1000 genomes]
rs6711639	0.90[ASN][1000 genomes]
rs6733135	1.00[CHB][hapmap]
rs868921	1.00[MEX][hapmap]

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	nsv1011278	chr2:99280928-99638376	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv535835	chr2:99280928-99638376	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv582517	chr2:99440917-99487972	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99440000-99460600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr2:99440400-99453800	Weak transcription	Brain Cingulate Gyrus	brain
3	chr2:99440400-99463400	Weak transcription	Fetal Intestine Large	intestine
4	chr2:99440600-99453800	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr2:99446400-99451600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr2:99446400-99451600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr2:99446800-99452000	Weak transcription	Primary T cells from cord blood	blood
8	chr2:99448400-99454000	Enhancers	Fetal Thymus	thymus
9	chr2:99448800-99452400	Enhancers	HUVEC	blood vessel
10	chr2:99449000-99452200	Enhancers	Dnd41	blood
11	chr2:99449200-99451400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr2:99449400-99454000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr2:99449600-99452200	Weak transcription	Esophagus	oesophagus
14	chr2:99450000-99454600	Weak transcription	Brain Angular Gyrus	brain
15	chr2:99450000-99468400	Weak transcription	Fetal Intestine Small	intestine
16	chr2:99450200-99451800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr2:99450400-99452400	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr2:99450400-99452400	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr2:99450400-99453800	Weak transcription	Duodenum Mucosa	Duodenum
20	chr2:99450600-99451600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr2:99450600-99453600	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr2:99450600-99455200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr2:99450600-99455200	Weak transcription	HMEC	breast
24	chr2:99450600-99456200	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr2:99450800-99451800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr2:99450800-99451800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr2:99450800-99452200	Weak transcription	HepG2	liver
28	chr2:99450800-99452600	Weak transcription	Adipose Nuclei	Adipose
29	chr2:99450800-99452800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr2:99450800-99453600	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr2:99450800-99462800	Weak transcription	Gastric	stomach
32	chr2:99451000-99451400	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr2:99451000-99451400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr2:99451000-99451400	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr2:99451000-99451400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr2:99451000-99451800	Weak transcription	Brain Anterior Caudate	brain
37	chr2:99451000-99452000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr2:99451000-99453400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr2:99451000-99456400	Weak transcription	Lung	lung
40	chr2:99451200-99454000	Enhancers	Primary T helper cells fromperipheralblood	blood

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