Variant report

Variant	rs1704915
Chromosome Location	chr12:104921664-104921665
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:104919275..104922640-chr12:104923988..104926677,3	K562	blood:
2	chr12:104919574..104922787-chr12:104926132..104929881,3	MCF-7	breast:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1553836	0.91[EUR][1000 genomes]
rs1553839	0.90[EUR][1000 genomes]
rs1625417	0.92[EUR][1000 genomes]
rs1626422	0.91[EUR][1000 genomes]
rs1628116	0.91[EUR][1000 genomes]
rs1704903	0.95[EUR][1000 genomes]
rs1704905	0.94[EUR][1000 genomes]
rs1704916	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1704917	0.92[EUR][1000 genomes]
rs1704918	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1704921	0.96[EUR][1000 genomes]
rs1704922	0.97[EUR][1000 genomes]
rs1704923	0.87[ASN][1000 genomes]
rs1704924	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1704925	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1704926	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1704927	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1704929	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17812021	0.83[ASN][1000 genomes]
rs1795851	0.87[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs1795852	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1795853	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1795854	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1795855	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1795856	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1795857	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1795859	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1795861	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1795862	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1795864	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1795867	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1795868	0.91[EUR][1000 genomes]
rs1795870	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1795872	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1973589	0.92[EUR][1000 genomes]
rs2055861	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2665748	0.95[EUR][1000 genomes]
rs2706273	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs907097	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832504	chr12:104853331-105028245	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104911000-104921800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr12:104915600-104936600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr12:104916600-104923000	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr12:104917200-104925800	Weak transcription	Lung	lung
5	chr12:104917600-104924600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr12:104917800-104922600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr12:104917800-104922600	Weak transcription	NHEK	skin
8	chr12:104917800-104922800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr12:104917800-104928200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr12:104918000-104934200	Weak transcription	A549	lung
11	chr12:104918200-104928200	Weak transcription	Osteobl	bone
12	chr12:104918200-104928400	Weak transcription	Ovary	ovary
13	chr12:104918400-104927400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr12:104918400-104928200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr12:104918600-104925400	Weak transcription	Spleen	Spleen
16	chr12:104918600-104926600	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr12:104918600-104926800	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr12:104918600-104927600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr12:104919200-104923800	Weak transcription	Rectal Smooth Muscle	rectum
20	chr12:104919200-104925600	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr12:104919200-104935000	Weak transcription	Primary T cells from cord blood	blood
22	chr12:104919400-104926000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr12:104919400-104928000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr12:104920000-104926400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr12:104920200-104922000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr12:104920200-104922400	Enhancers	Primary T cells fromperipheralblood	blood
27	chr12:104920200-104922600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr12:104920400-104922200	Enhancers	H9 Cell Line	embryonic stem cell
29	chr12:104920400-104927400	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr12:104920600-104922600	Weak transcription	Placenta	Placenta
31	chr12:104920600-104926200	Weak transcription	Fetal Thymus	thymus
32	chr12:104920600-104929400	Weak transcription	Colon Smooth Muscle	Colon
33	chr12:104920800-104922400	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
34	chr12:104920800-104923000	ZNF genes & repeats	Primary B cells from peripheral blood	blood
35	chr12:104920800-104924200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
36	chr12:104920800-104926200	Strong transcription	Dnd41	blood
37	chr12:104921000-104922600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr12:104921000-104922800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr12:104921000-104929200	Weak transcription	Right Ventricle	heart
40	chr12:104921200-104922400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr12:104921200-104923000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr12:104921200-104923400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr12:104921200-104923600	Strong transcription	Primary hematopoietic stem cells	blood
44	chr12:104921200-104927000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr12:104921200-104928000	Weak transcription	K562	blood
46	chr12:104921200-104928400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr12:104921400-104922800	Weak transcription	Left Ventricle	heart
48	chr12:104921400-104925400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr12:104921400-104926600	Weak transcription	Pancreas	Pancrea
50	chr12:104921400-104926800	Weak transcription	Fetal Heart	heart

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