Variant report

Variant	rs4500383
Chromosome Location	chr1:212391596-212391597
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:212389745..212391730-chr1:212393335..212395896,2	K562	blood:

Extended variants
information (count: 61 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs1009622	0.91[CHB][hapmap]
rs10436962	0.80[EUR][1000 genomes]
rs10436976	0.80[EUR][1000 genomes]
rs10863953	0.88[EUR][1000 genomes]
rs10863954	0.88[EUR][1000 genomes]
rs11119879	0.88[EUR][1000 genomes]
rs11119880	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11119883	0.90[EUR][1000 genomes]
rs11119884	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.80[YRI][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11119885	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11119887	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12028026	0.91[EUR][1000 genomes]
rs12038888	0.83[EUR][1000 genomes]
rs12073206	0.90[EUR][1000 genomes]
rs12402397	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12746096	0.81[EUR][1000 genomes]
rs1389369	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1389370	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1472226	0.96[CEU][hapmap];0.92[CHB][hapmap];0.89[JPT][hapmap];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1967114	0.89[EUR][1000 genomes]
rs1967116	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1967117	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2001234	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2012917	1.00[CEU][hapmap];0.92[CHB][hapmap];0.89[JPT][hapmap];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2087946	1.00[CEU][hapmap];0.93[CHB][hapmap];0.89[JPT][hapmap];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2307128	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2884512	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs351386	0.91[CHB][hapmap]
rs351408	0.82[CHB][hapmap];0.83[JPT][hapmap]
rs35209719	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3816912	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4362041	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4558048	0.88[EUR][1000 genomes]
rs4951581	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4951582	0.81[ASN][1000 genomes]
rs6540729	0.89[EUR][1000 genomes]
rs6540731	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6540732	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6540733	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6540734	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6540735	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6657900	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6668866	1.00[CHB][hapmap];0.89[JPT][hapmap];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6679796	0.80[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6695681	0.90[EUR][1000 genomes]
rs7511781	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7515645	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7518329	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7519168	1.00[CHB][hapmap];0.94[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7530375	0.88[EUR][1000 genomes]
rs7537062	0.90[EUR][1000 genomes]
rs7542973	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7544225	0.91[CHB][hapmap];0.83[JPT][hapmap]
rs7552021	0.89[EUR][1000 genomes]
rs867584	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs903120	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs903121	1.00[CEU][hapmap];0.93[CHB][hapmap];0.89[JPT][hapmap];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs951623	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]

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	nsv999738	chr1:212218618-212513690	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1009376	chr1:212292357-212680320	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4500383	C1orf75	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212379600-212391600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:212383000-212393000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr1:212383400-212394600	Weak transcription	Left Ventricle	heart
4	chr1:212388600-212392400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr1:212388600-212393000	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr1:212388600-212393200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr1:212389000-212392000	Weak transcription	K562	blood
8	chr1:212389000-212393000	Weak transcription	Fetal Intestine Large	intestine
9	chr1:212389600-212391800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr1:212390800-212391800	Enhancers	Duodenum Mucosa	Duodenum
11	chr1:212390800-212392600	Enhancers	Adipose Nuclei	Adipose
12	chr1:212390800-212393800	Enhancers	Fetal Heart	heart
13	chr1:212391000-212391800	Enhancers	Lung	lung
14	chr1:212391000-212392000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr1:212391000-212392200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr1:212391000-212392200	Enhancers	Fetal Intestine Small	intestine
17	chr1:212391000-212392200	Enhancers	Fetal Muscle Leg	muscle
18	chr1:212391000-212392200	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr1:212391000-212392400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr1:212391000-212392600	Enhancers	HUVEC	blood vessel
21	chr1:212391000-212393400	Enhancers	Stomach Mucosa	stomach
22	chr1:212391000-212393800	Enhancers	Fetal Thymus	thymus
23	chr1:212391000-212393800	Enhancers	Thymus	Thymus
24	chr1:212391000-212393800	Enhancers	NHDF-Ad	bronchial
25	chr1:212391200-212392000	Enhancers	Rectal Mucosa Donor 29	rectum
26	chr1:212391200-212392200	Enhancers	Right Atrium	heart
27	chr1:212391200-212392200	Bivalent Enhancer	HepG2	liver
28	chr1:212391200-212392400	Enhancers	Gastric	stomach
29	chr1:212391200-212392600	Enhancers	Sigmoid Colon	Sigmoid Colon
30	chr1:212391200-212392600	Enhancers	Spleen	Spleen
31	chr1:212391200-212392800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr1:212391200-212393000	Weak transcription	Placenta	Placenta
33	chr1:212391200-212393600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr1:212391200-212393800	Enhancers	HSMMtube	muscle
35	chr1:212391200-212394000	Enhancers	Fetal Kidney	kidney
36	chr1:212391200-212394000	Enhancers	Fetal Lung	lung
37	chr1:212391200-212399000	Weak transcription	Pancreas	Pancrea
38	chr1:212391400-212391600	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr1:212391400-212391800	Weak transcription	Small Intestine	intestine
40	chr1:212391400-212392400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr1:212391400-212392600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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