Variant report

Variant	rs10797930
Chromosome Location	chr1:183969119-183969120
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:183968128..183970872-chr1:183981037..183985172,5	K562	blood:
2	chr1:183968067..183969745-chr1:183975165..183977990,2	K562	blood:
3	chr1:183961286..183963982-chr1:183968217..183971104,2	K562	blood:
4	chr1:183966449..183970742-chr1:183981274..183983933,4	K562	blood:
5	chr1:183967387..183970821-chr1:183971307..183974997,4	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10752927	0.85[ASN][1000 genomes]
rs10797925	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10797926	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10797927	0.85[ASN][1000 genomes]
rs10797928	0.85[ASN][1000 genomes]
rs10797929	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10797932	0.94[ASN][1000 genomes]
rs10911477	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10911480	0.85[ASN][1000 genomes]
rs10911481	0.85[ASN][1000 genomes]
rs10911482	0.85[ASN][1000 genomes]
rs10911483	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10911484	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10911485	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10911486	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12021841	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12023778	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12027096	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12028482	0.85[ASN][1000 genomes]
rs12030903	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12030924	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12034897	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12034962	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12042354	0.85[ASN][1000 genomes]
rs12044468	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12059407	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12060999	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12061041	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12064779	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12069197	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12085344	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1475402	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16861859	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1887282	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1887283	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1926866	0.85[ASN][1000 genomes]
rs1926867	0.83[ASN][1000 genomes]
rs1926868	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1998926	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2025807	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2148672	0.85[ASN][1000 genomes]
rs2148678	0.84[ASN][1000 genomes]
rs2182623	0.85[ASN][1000 genomes]
rs2182624	0.85[ASN][1000 genomes]
rs3930248	0.85[ASN][1000 genomes]
rs6662690	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6698329	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6701930	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7410829	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs751410	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[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	nsv530079	chr1:183797938-184639971	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv533206	chr1:183861204-184091272	Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1006655	chr1:183922288-184186677	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv872583	chr1:183955574-184015663	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:183955000-183971200	Weak transcription	Right Atrium	heart
2	chr1:183958600-183974200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:183958800-183971000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:183961400-183970800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr1:183963000-183969400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr1:183965800-183971200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr1:183965800-183971200	Weak transcription	Left Ventricle	heart
8	chr1:183966000-183971000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr1:183966000-183971000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr1:183966000-183971000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr1:183966000-183971000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr1:183966000-183971200	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr1:183966000-183971200	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr1:183966000-183971200	Weak transcription	Colon Smooth Muscle	Colon
15	chr1:183966000-183972400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr1:183966200-183970800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr1:183966200-183970800	Weak transcription	Brain Cingulate Gyrus	brain
18	chr1:183966200-183971000	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr1:183966200-183971000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr1:183966200-183971000	Weak transcription	Stomach Mucosa	stomach
21	chr1:183966200-183971200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr1:183966200-183971200	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr1:183966200-183971200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr1:183966400-183971200	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr1:183967200-183970600	Weak transcription	Brain Substantia Nigra	brain
26	chr1:183967400-183970800	Weak transcription	HepG2	liver
27	chr1:183967400-183971000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:183967600-183970800	Weak transcription	Brain Hippocampus Middle	brain
29	chr1:183967600-183971000	Weak transcription	HMEC	breast
30	chr1:183967600-183971200	Weak transcription	Fetal Heart	heart
31	chr1:183967600-183971200	Weak transcription	NHEK	skin
32	chr1:183967800-183970800	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr1:183967800-183970800	Weak transcription	Brain Angular Gyrus	brain
34	chr1:183968400-183971000	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr1:183968400-183971000	Weak transcription	K562	blood

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