Variant report

Variant	rs12063995
Chromosome Location	chr1:150984880-150984881
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:150980774..150986118-chr1:151028117..151032528,6	MCF-7	breast:
2	chr1:150983476..150986465-chr1:151136618..151138245,2	MCF-7	breast:
3	chr1:150983756..150986937-chr1:151021073..151026316,5	K562	blood:
4	chr1:150959117..150961837-chr1:150983073..150984965,2	MCF-7	breast:
5	chr1:150979291..150984938-chr1:151030285..151033653,10	K562	blood:
6	chr1:150984595..150987305-chr1:150988636..150991774,4	K562	blood:
7	chr1:150981060..150985373-chr1:151041559..151045283,5	MCF-7	breast:
8	chr1:150983123..150985410-chr1:151041605..151044265,2	K562	blood:
9	chr1:150539830..150542642-chr1:150984713..150987100,2	K562	blood:
10	chr1:150976723..150987587-chr1:151024685..151036322,24	MCF-7	breast:
11	chr1:150983910..150986216-chr1:151042765..151044434,2	K562	blood:
12	chr1:150984858..150987651-chr1:151041416..151043827,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000213190	Chromatin interaction
ENSG00000264584	Chromatin interaction
ENSG00000197622	Chromatin interaction
ENSG00000143458	Chromatin interaction
ENSG00000143443	Chromatin interaction

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

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

rs_ID	r²[population]
rs10305699	1.00[AFR][1000 genomes]
rs10305724	1.00[AFR][1000 genomes]
rs11204757	1.00[CEU][hapmap]
rs11204761	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11799964	1.00[CEU][hapmap]
rs11799977	1.00[CEU][hapmap]
rs11803792	1.00[CEU][hapmap]
rs12089671	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12092591	1.00[AMR][1000 genomes]
rs12094394	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12094892	1.00[CEU][hapmap]
rs1534059	1.00[CEU][hapmap]
rs28517861	0.86[EUR][1000 genomes]
rs41271951	1.00[AFR][1000 genomes]
rs6673766	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001897	chr1:150743271-151241600	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv535158	chr1:150743271-151241600	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv522840	chr1:150933723-151347746	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
4	nsv916272	chr1:150961809-151557253	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150981800-150985400	Weak transcription	Ovary	ovary
2	chr1:150981800-150997000	Weak transcription	Aorta	Aorta
3	chr1:150981800-151006400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:150982000-150985000	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr1:150982000-150985400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:150982000-150985400	Weak transcription	Gastric	stomach
7	chr1:150982000-150985400	Weak transcription	Pancreas	Pancrea
8	chr1:150982000-150985400	Weak transcription	Right Ventricle	heart
9	chr1:150982000-150985600	Weak transcription	Colonic Mucosa	Colon
10	chr1:150982000-150985600	Weak transcription	Lung	lung
11	chr1:150982000-150985800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr1:150982000-150985800	Weak transcription	Fetal Brain Male	brain
13	chr1:150982000-150985800	Enhancers	Fetal Heart	heart
14	chr1:150982000-150985800	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr1:150982000-150986600	Enhancers	Primary hematopoietic stem cells	blood
16	chr1:150982000-150987200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr1:150982000-150990200	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr1:150982000-150990400	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr1:150982000-150990400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr1:150982000-150996800	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr1:150982000-150997000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr1:150982000-150997000	Weak transcription	Esophagus	oesophagus
23	chr1:150982000-150997000	Weak transcription	Psoas Muscle	Psoas
24	chr1:150982000-150998000	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr1:150982000-150999600	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr1:150982000-151009000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr1:150982200-150985000	Weak transcription	Primary B cells from cord blood	blood
28	chr1:150982200-150985200	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr1:150982200-150985200	Enhancers	HepG2	liver
30	chr1:150982200-150985400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr1:150982200-150985400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr1:150982200-150985400	Weak transcription	Placenta	Placenta
33	chr1:150982200-150985600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr1:150982200-150985600	Weak transcription	Small Intestine	intestine
35	chr1:150982200-150985600	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr1:150982200-150987600	Enhancers	Fetal Intestine Large	intestine
37	chr1:150982200-150990400	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr1:150982200-150990600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr1:150982200-150995200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr1:150982200-150997200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr1:150982200-150997200	Weak transcription	HUVEC	blood vessel
42	chr1:150982200-150999400	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr1:150982200-150999800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr1:150982200-151002800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr1:150982400-150985000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr1:150982400-150985000	Weak transcription	NHLF	lung
47	chr1:150982400-150985400	Weak transcription	Fetal Stomach	stomach
48	chr1:150982400-150985600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr1:150982400-150985600	Weak transcription	NH-A	brain
50	chr1:150982400-150985800	Enhancers	Fetal Intestine Small	intestine

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