Variant report

Variant	rs12376130
Chromosome Location	chr9:94620277-94620278
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:94615667..94617326-chr9:94618676..94621395,2	K562	blood:
2	chr9:94619022..94622671-chr9:94625624..94629747,5	K562	blood:
3	chr9:94602912..94604839-chr9:94617568..94620449,2	MCF-7	breast:

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10820905	0.81[EUR][1000 genomes]
rs10820910	0.81[CEU][hapmap]
rs10992123	0.84[CEU][hapmap]
rs10992124	0.87[CEU][hapmap];0.82[AMR][1000 genomes]
rs10992126	0.83[EUR][1000 genomes]
rs10992128	0.81[CEU][hapmap]
rs10992129	0.81[CEU][hapmap]
rs10992130	0.83[CEU][hapmap]
rs10992131	0.81[CEU][hapmap]
rs10992132	0.87[CEU][hapmap]
rs10992134	0.87[CEU][hapmap];0.83[JPT][hapmap];0.82[EUR][1000 genomes]
rs10992135	0.84[CEU][hapmap]
rs10992136	0.88[CEU][hapmap];0.80[CHB][hapmap];0.83[JPT][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10992137	0.87[CEU][hapmap];0.80[AMR][1000 genomes]
rs10992139	0.88[CEU][hapmap];0.80[AMR][1000 genomes]
rs10992142	0.84[CEU][hapmap]
rs10992143	0.84[CEU][hapmap];0.80[AMR][1000 genomes]
rs10992144	0.84[CEU][hapmap];0.83[JPT][hapmap];0.83[EUR][1000 genomes]
rs10992145	0.92[CEU][hapmap];0.83[JPT][hapmap];0.85[EUR][1000 genomes]
rs11789730	0.91[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11790144	0.88[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11791450	0.82[CEU][hapmap];0.81[CHB][hapmap];0.82[JPT][hapmap];0.82[EUR][1000 genomes]
rs12378938	0.81[CHB][hapmap];0.84[JPT][hapmap];0.82[EUR][1000 genomes]
rs12552292	0.82[CEU][hapmap]
rs12552858	0.91[CEU][hapmap];0.80[AMR][1000 genomes]
rs12555334	0.86[CEU][hapmap];0.80[EUR][1000 genomes]
rs12684524	0.83[CEU][hapmap]
rs1528363	0.84[CEU][hapmap]
rs1528364	0.84[CEU][hapmap]
rs1534530	0.84[EUR][1000 genomes]
rs1534533	0.81[CEU][hapmap]
rs16907887	0.80[AMR][1000 genomes]
rs1881385	0.83[CEU][hapmap];0.83[JPT][hapmap];0.83[EUR][1000 genomes]
rs1881387	0.83[CEU][hapmap]
rs1881392	0.87[CEU][hapmap]
rs2030991	0.80[EUR][1000 genomes]
rs2312732	0.84[CEU][hapmap]
rs2312733	0.82[EUR][1000 genomes]
rs2312735	0.83[CEU][hapmap];0.83[JPT][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4744107	0.84[CEU][hapmap];0.83[JPT][hapmap]
rs4744108	0.80[AMR][1000 genomes]
rs4744109	0.88[CEU][hapmap]
rs4744110	0.83[CEU][hapmap]
rs4744111	0.81[CEU][hapmap]
rs4744113	0.81[CEU][hapmap]
rs55663665	0.82[AMR][1000 genomes]
rs55956910	0.85[EUR][1000 genomes]
rs56308784	0.81[AMR][1000 genomes]
rs58202197	0.80[EUR][1000 genomes]
rs7030661	0.88[CEU][hapmap];0.83[JPT][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7031562	0.83[CEU][hapmap]
rs7033819	0.84[CEU][hapmap]
rs7039406	0.88[CEU][hapmap]
rs7045226	0.87[CEU][hapmap];0.83[JPT][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7048756	0.84[CEU][hapmap]
rs7847473	0.84[EUR][1000 genomes]
rs7850118	0.92[CEU][hapmap];0.83[JPT][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7864311	0.85[EUR][1000 genomes]
rs7865855	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7870902	0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045332	chr9:94352661-94656016	Active TSS Bivalent Enhancer Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1047426	chr9:94363211-94758114	Weak transcription Bivalent Enhancer Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
3	nsv531631	chr9:94373847-94633213	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1036176	chr9:94500213-94639367	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv540171	chr9:94500213-94639367	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv949008	chr9:94500776-95182133	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94615200-94621000	Enhancers	Fetal Heart	heart
2	chr9:94616000-94620400	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr9:94616400-94621400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr9:94616800-94621400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr9:94617400-94621400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr9:94617600-94621400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr9:94617600-94621400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr9:94617800-94621200	Enhancers	Duodenum Smooth Muscle	Duodenum
9	chr9:94617800-94621400	Enhancers	Colon Smooth Muscle	Colon
10	chr9:94617800-94621400	Enhancers	Rectal Smooth Muscle	rectum
11	chr9:94618000-94620400	Weak transcription	Esophagus	oesophagus
12	chr9:94618000-94620400	Weak transcription	Spleen	Spleen
13	chr9:94618000-94621200	Enhancers	Fetal Thymus	thymus
14	chr9:94618600-94621000	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr9:94618600-94621400	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr9:94618800-94621000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr9:94618800-94621000	Enhancers	Fetal Kidney	kidney
18	chr9:94618800-94621200	Enhancers	Fetal Stomach	stomach
19	chr9:94618800-94621400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr9:94618800-94621400	Enhancers	Fetal Lung	lung
21	chr9:94619000-94620800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr9:94619000-94620800	Enhancers	Ovary	ovary
23	chr9:94619000-94621000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr9:94619000-94621400	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr9:94619000-94621400	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr9:94619000-94621400	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr9:94619200-94620800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr9:94619200-94621200	Enhancers	H1 Cell Line	embryonic stem cell
29	chr9:94619200-94621400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr9:94619200-94621400	Flanking Active TSS	Stomach Smooth Muscle	stomach
31	chr9:94619400-94620400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr9:94619400-94620400	Enhancers	Fetal Muscle Trunk	muscle
33	chr9:94619400-94620600	Enhancers	Primary hematopoietic stem cells	blood
34	chr9:94619400-94620600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr9:94619400-94620800	Enhancers	Fetal Muscle Leg	muscle
36	chr9:94619600-94620400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr9:94619600-94620400	Enhancers	Fetal Intestine Small	intestine
38	chr9:94619600-94620600	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr9:94619600-94620600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
40	chr9:94619600-94620800	Enhancers	H9 Cell Line	embryonic stem cell
41	chr9:94619600-94620800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr9:94619600-94621200	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr9:94619600-94621400	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr9:94619600-94621400	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr9:94619800-94620400	Enhancers	Placenta Amnion	Placenta Amnion
46	chr9:94619800-94620600	Enhancers	Brain Germinal Matrix	brain
47	chr9:94619800-94621400	Enhancers	Placenta	Placenta
48	chr9:94620200-94620800	Bivalent Enhancer	Fetal Brain Male	brain
49	chr9:94620200-94621200	Enhancers	Right Atrium	heart
50	chr9:94620200-94621400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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