Variant report

Variant	rs4430151
Chromosome Location	chr9:94662474-94662475
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:94656937..94658928-chr9:94660784..94663442,2	MCF-7	breast:
2	chr9:94658826..94661180-chr9:94661410..94663593,2	K562	blood:
3	chr9:94653069..94655970-chr9:94661069..94663824,3	K562	blood:
4	chr9:94661900..94664292-chr9:94705248..94709269,4	K562	blood:
5	chr9:94538158..94540180-chr9:94661146..94663275,2	K562	blood:
6	chr9:94659650..94662569-chr9:94690819..94692460,2	K562	blood:
7	chr9:94658208..94667163-chr9:94705322..94714120,17	K562	blood:

Variant related genes	Relation type
ENSG00000169071	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10761135	0.80[CEU][hapmap]
rs10761137	0.91[CEU][hapmap]
rs10820914	0.96[CEU][hapmap]
rs10820915	0.82[EUR][1000 genomes]
rs10992149	0.86[CEU][hapmap]
rs10992151	0.95[CEU][hapmap]
rs10992158	0.87[CEU][hapmap];0.88[GIH][hapmap];0.84[MEX][hapmap];0.93[TSI][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10992159	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10992161	0.86[TSI][hapmap]
rs11789973	0.96[CEU][hapmap]
rs11792319	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12555334	0.80[CEU][hapmap]
rs12683797	0.88[CEU][hapmap]
rs1609292	0.91[CEU][hapmap]
rs1881384	0.82[EUR][1000 genomes]
rs1892263	0.86[TSI][hapmap]
rs2030992	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3905385	0.95[CEU][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4275276	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4347043	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4347044	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4517189	0.96[CEU][hapmap];0.80[JPT][hapmap]
rs4744112	0.80[CEU][hapmap]
rs4744113	0.88[CEU][hapmap]
rs57688942	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62565678	0.80[EUR][1000 genomes]
rs62565679	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62565747	0.81[EUR][1000 genomes]
rs6479383	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9774945	0.84[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv530946	chr9:94633154-94715023	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4430151	SPTLC1	cis	parietal	SCAN
rs4430151	NOL8	cis	cerebellum	SCAN

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94649400-94663200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr9:94651200-94665000	Weak transcription	NHLF	lung
3	chr9:94658000-94663600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr9:94658000-94667400	Enhancers	Fetal Lung	lung
5	chr9:94658200-94666200	Enhancers	Fetal Kidney	kidney
6	chr9:94658400-94664400	Enhancers	Fetal Intestine Large	intestine
7	chr9:94658400-94664600	Enhancers	Fetal Intestine Small	intestine
8	chr9:94658400-94665800	Enhancers	Duodenum Smooth Muscle	Duodenum
9	chr9:94658800-94663400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr9:94659000-94663200	Enhancers	Pancreas	Pancrea
11	chr9:94659200-94662800	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr9:94659200-94663000	Enhancers	Gastric	stomach
13	chr9:94659200-94663000	Enhancers	Rectal Mucosa Donor 29	rectum
14	chr9:94659200-94663400	Enhancers	Fetal Muscle Leg	muscle
15	chr9:94659200-94665400	Enhancers	Ovary	ovary
16	chr9:94659600-94662600	Enhancers	Rectal Smooth Muscle	rectum
17	chr9:94659600-94663200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr9:94659600-94665600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr9:94659600-94668400	Enhancers	Colon Smooth Muscle	Colon
20	chr9:94659800-94663600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr9:94660200-94663400	Enhancers	Placenta	Placenta
22	chr9:94660200-94663800	Enhancers	Duodenum Mucosa	Duodenum
23	chr9:94660200-94666200	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr9:94660400-94662600	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr9:94660400-94662800	Bivalent Enhancer	Stomach Mucosa	stomach
26	chr9:94660400-94663400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr9:94660600-94663000	Enhancers	Fetal Thymus	thymus
28	chr9:94660800-94662600	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr9:94660800-94662800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr9:94660800-94662800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr9:94660800-94662800	Enhancers	Colonic Mucosa	Colon
32	chr9:94660800-94663000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr9:94660800-94663000	Enhancers	Right Ventricle	heart
34	chr9:94661000-94662800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
35	chr9:94661000-94662800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr9:94661000-94663000	Enhancers	H1 Cell Line	embryonic stem cell
37	chr9:94661000-94663000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
38	chr9:94661000-94663000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr9:94661000-94663000	Enhancers	Lung	lung
40	chr9:94661000-94663000	Genic enhancers	Right Atrium	heart
41	chr9:94661200-94662600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
42	chr9:94661200-94662800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr9:94661200-94666600	Enhancers	Fetal Stomach	stomach
44	chr9:94661400-94662600	Weak transcription	Esophagus	oesophagus
45	chr9:94661600-94662600	Weak transcription	Spleen	Spleen
46	chr9:94661600-94663000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr9:94661600-94665600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr9:94661800-94662800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr9:94662000-94662600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
50	chr9:94662000-94662800	Enhancers	Left Ventricle	heart

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