Variant report

Variant	rs12170294
Chromosome Location	chr22:28276431-28276432
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:27801863..27802520-chr22:28276059..28277086,3	MCF-7	breast:
2	chr22:28276059..28277066-chr22:28405009..28405550,3	K562	blood:
3	chr22:28276420..28277471-chr22:28404905..28405994,4	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MN1-8	chr22:28276022-28277106	NONHSAT084602

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10483138	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11090518	1.00[CEU][hapmap];0.83[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12166069	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12168796	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12170186	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12170737	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12330032	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16985666	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16985691	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16985697	1.00[CEU][hapmap];0.83[YRI][hapmap];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16985700	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16985704	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16985705	1.00[CEU][hapmap];0.82[YRI][hapmap];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16985706	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16985707	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16985718	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs58520548	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs59807513	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8140760	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8142319	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8142920	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs926468	1.00[CEU][hapmap];0.83[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9306449	1.00[CEU][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9306450	1.00[CEU][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9620742	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9620744	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620745	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620746	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9620747	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620752	0.84[YRI][hapmap]
rs9625345	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625346	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9625347	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9625348	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9625349	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625350	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625351	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625352	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625357	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062877	chr22:28163507-28866350	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv588878	chr22:28248840-28314113	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28247000-28311800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr22:28253800-28279600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr22:28254000-28279800	Weak transcription	Spleen	Spleen
4	chr22:28256000-28279800	Weak transcription	Colonic Mucosa	Colon
5	chr22:28259200-28279800	Weak transcription	Esophagus	oesophagus
6	chr22:28259600-28279600	Weak transcription	Gastric	stomach
7	chr22:28263600-28279600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr22:28263800-28279800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr22:28266800-28279800	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr22:28267200-28276600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr22:28267600-28277200	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr22:28268000-28279800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr22:28268200-28279800	Weak transcription	Pancreas	Pancrea
14	chr22:28268600-28279800	Enhancers	Rectal Smooth Muscle	rectum
15	chr22:28269800-28279800	Weak transcription	Hela-S3	cervix
16	chr22:28270000-28279600	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr22:28270000-28279800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr22:28270000-28283200	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr22:28270400-28276800	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr22:28270400-28277200	Weak transcription	Right Atrium	heart
21	chr22:28270400-28277400	Weak transcription	Psoas Muscle	Psoas
22	chr22:28270400-28278600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr22:28270400-28279000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr22:28270400-28279000	Weak transcription	Fetal Muscle Trunk	muscle
25	chr22:28270400-28279200	Weak transcription	Placenta	Placenta
26	chr22:28270400-28279600	Weak transcription	Lung	lung
27	chr22:28270400-28281200	Weak transcription	K562	blood
28	chr22:28271000-28279000	Weak transcription	Fetal Thymus	thymus
29	chr22:28271400-28276600	Weak transcription	Left Ventricle	heart
30	chr22:28271400-28277000	Enhancers	Fetal Brain Male	brain
31	chr22:28271400-28278400	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr22:28271600-28278400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr22:28271800-28278400	Weak transcription	Primary B cells from peripheral blood	blood
34	chr22:28272200-28277200	Weak transcription	Aorta	Aorta
35	chr22:28272200-28279600	Weak transcription	Primary B cells from cord blood	blood
36	chr22:28273000-28276800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr22:28273000-28277000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr22:28273000-28277000	Weak transcription	NH-A	brain
39	chr22:28273000-28277200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr22:28273000-28277400	Weak transcription	Ovary	ovary
41	chr22:28273000-28277600	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr22:28273000-28279000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr22:28273000-28279400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr22:28273000-28279400	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr22:28273200-28277000	Weak transcription	Duodenum Mucosa	Duodenum
46	chr22:28273200-28277000	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr22:28273200-28277200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr22:28273200-28279400	Enhancers	Fetal Stomach	stomach
49	chr22:28273200-28279600	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr22:28273200-28284800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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