Variant report

Variant	rs12042263
Chromosome Location	chr1:150914838-150914839
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	chr1:150913963..150916661-chr1:150920841..150922582,2	MCF-7	breast:
2	chr1:150914713..150918852-chr1:150920051..150923058,4	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11579289	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12040707	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12044969	0.88[ASN][1000 genomes]
rs16832604	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2305812	0.85[ASN][1000 genomes]
rs2305815	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs267724	0.87[ASN][1000 genomes]
rs267736	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34090972	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3754210	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs533928	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs539118	0.87[ASN][1000 genomes]
rs61817649	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6671489	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6679701	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6688248	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72706512	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7521445	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7535032	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7535848	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs771203	0.87[ASN][1000 genomes]
rs771204	0.87[ASN][1000 genomes]
rs771205	0.88[ASN][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	esv2829859	chr1:150608894-150937329	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	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
3	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
4	nsv1008496	chr1:150845827-150970656	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150899400-150915000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:150899600-150943400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:150900000-150915200	Weak transcription	Esophagus	oesophagus
4	chr1:150900200-150941800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
5	chr1:150900400-150928400	Strong transcription	Liver	Liver
6	chr1:150900400-150941000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr1:150900400-150942600	Weak transcription	Stomach Mucosa	stomach
8	chr1:150900400-150944200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:150901000-150941600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr1:150901600-150941600	Strong transcription	Rectal Mucosa Donor 29	rectum
11	chr1:150902400-150917600	Strong transcription	HSMM	muscle
12	chr1:150903400-150915000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr1:150903400-150917000	Weak transcription	Fetal Heart	heart
14	chr1:150903600-150919600	Weak transcription	Psoas Muscle	Psoas
15	chr1:150903600-150941600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr1:150903600-150942200	Strong transcription	Dnd41	blood
17	chr1:150903600-150942800	Strong transcription	Fetal Stomach	stomach
18	chr1:150903600-150943000	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr1:150903600-150943200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr1:150903800-150915000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr1:150903800-150915400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr1:150903800-150942600	Strong transcription	Fetal Thymus	thymus
23	chr1:150904000-150930600	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr1:150904400-150915000	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr1:150904400-150940800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr1:150904600-150942200	Strong transcription	Duodenum Mucosa	Duodenum
27	chr1:150904600-150942400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr1:150904600-150942400	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr1:150904600-150943400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr1:150904800-150936400	Strong transcription	Placenta	Placenta
31	chr1:150904800-150940800	Strong transcription	Fetal Intestine Large	intestine
32	chr1:150904800-150941800	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr1:150904800-150941800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr1:150905000-150941800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr1:150905000-150942000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr1:150905000-150942400	Strong transcription	Primary neutrophils fromperipheralblood	blood
37	chr1:150905000-150943000	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr1:150905400-150916400	Strong transcription	Fetal Intestine Small	intestine
39	chr1:150905400-150942800	Strong transcription	Fetal Muscle Leg	muscle
40	chr1:150905600-150942000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr1:150906200-150942400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr1:150906400-150941600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr1:150906800-150928200	Strong transcription	Duodenum Smooth Muscle	Duodenum
44	chr1:150907000-150941600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr1:150907000-150941800	Strong transcription	Fetal Brain Female	brain
46	chr1:150907000-150942200	Strong transcription	HUES48 Cell Line	embryonic stem cell
47	chr1:150907000-150942400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr1:150907200-150941600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr1:150907600-150924800	Strong transcription	GM12878-XiMat	blood
50	chr1:150908200-150928400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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