Variant report

Variant	rs6690730
Chromosome Location	chr1:197099564-197099565
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	chr1:197086007..197089050-chr1:197097882..197101609,3	K562	blood:
2	chr1:197098436..197100309-chr1:197101264..197103559,2	K562	blood:

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10754216	0.91[ASN][1000 genomes]
rs10801589	0.81[JPT][hapmap];0.89[ASN][1000 genomes]
rs10922163	0.82[JPT][hapmap];0.89[ASN][1000 genomes]
rs1127661	1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12755054	0.81[JPT][hapmap]
rs1332661	0.81[ASN][1000 genomes]
rs1412635	0.82[JPT][hapmap]
rs1611982	0.81[JPT][hapmap]
rs1615413	0.81[ASN][1000 genomes]
rs1750311	0.81[JPT][hapmap]
rs17514309	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17514324	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17549312	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17549360	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17549430	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17550014	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17550411	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17662710	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1794011	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2225565	0.81[EUR][1000 genomes]
rs2298882	0.81[ASN][1000 genomes]
rs2878749	1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3737110	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3737111	0.91[ASN][1000 genomes]
rs3748557	1.00[JPT][hapmap]
rs3762271	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs41304071	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs41308365	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs41310911	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41310925	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs41310927	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4244139	0.82[JPT][hapmap]
rs4581302	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4628533	1.00[AFR][1000 genomes]
rs55857606	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56084994	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56111948	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56387334	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs5996	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61819074	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61819087	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61819088	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61819089	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61819095	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61819096	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61819116	1.00[AFR][1000 genomes]
rs61819117	1.00[AFR][1000 genomes]
rs61819118	1.00[AFR][1000 genomes]
rs61819119	0.91[AFR][1000 genomes]
rs61819124	1.00[AFR][1000 genomes]
rs61820789	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61820800	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6677930	0.82[JPT][hapmap]
rs6700180	0.89[ASN][1000 genomes]
rs698859	1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72736469	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72736474	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72738635	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72738637	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72738645	1.00[AFR][1000 genomes]
rs72738652	1.00[AFR][1000 genomes]
rs7410943	0.82[JPT][hapmap]
rs7514071	0.83[ASN][1000 genomes]
rs7517428	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs857024	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs857025	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs955927	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9727516	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv528460	chr1:196542567-197446702	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv2758990	chr1:196590837-197169772	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv427897	chr1:196590837-197169772	Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	esv2757767	chr1:196977799-197169772	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv873069	chr1:197055925-197109042	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv873070	chr1:197079671-197165014	Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
7	nsv873071	chr1:197079671-197187605	Active TSS Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
8	nsv873072	chr1:197079671-197221248	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197052200-197106600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:197052200-197114200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:197054200-197113600	Weak transcription	Fetal Kidney	kidney
4	chr1:197055000-197114200	Weak transcription	Primary B cells from cord blood	blood
5	chr1:197070600-197100000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr1:197071000-197105400	Strong transcription	Dnd41	blood
7	chr1:197071800-197104600	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr1:197072600-197104600	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr1:197072600-197107400	Weak transcription	Fetal Intestine Small	intestine
10	chr1:197073000-197104000	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr1:197073000-197115000	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr1:197074000-197115000	Weak transcription	Fetal Brain Male	brain
13	chr1:197074200-197102000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr1:197077000-197114200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:197078200-197100400	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr1:197080600-197105400	Strong transcription	Fetal Thymus	thymus
17	chr1:197081200-197103000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr1:197083600-197108000	Strong transcription	HUVEC	blood vessel
19	chr1:197084400-197102000	Weak transcription	Duodenum Mucosa	Duodenum
20	chr1:197084400-197106600	Weak transcription	Fetal Stomach	stomach
21	chr1:197084600-197100000	Strong transcription	Hela-S3	cervix
22	chr1:197085800-197099800	Weak transcription	Fetal Heart	heart
23	chr1:197085800-197099800	Weak transcription	Thymus	Thymus
24	chr1:197085800-197109600	Weak transcription	Brain Germinal Matrix	brain
25	chr1:197085800-197111000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr1:197089200-197105200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr1:197089800-197101000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr1:197089800-197105200	Strong transcription	Primary neutrophils fromperipheralblood	blood
29	chr1:197089800-197108400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr1:197090000-197110800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr1:197090400-197101000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr1:197091000-197106600	Weak transcription	Fetal Muscle Trunk	muscle
33	chr1:197092200-197099800	Weak transcription	NHEK	skin
34	chr1:197092200-197100000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr1:197092600-197100600	Weak transcription	Fetal Muscle Leg	muscle
36	chr1:197092600-197101000	Weak transcription	Placenta	Placenta
37	chr1:197093600-197104600	Strong transcription	K562	blood
38	chr1:197093800-197108400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr1:197095800-197101200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr1:197095800-197102600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr1:197095800-197114400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr1:197096200-197100200	Weak transcription	Adipose Nuclei	Adipose
43	chr1:197096200-197105400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr1:197096400-197101200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr1:197096400-197101200	Strong transcription	Cortex derived primary cultured neurospheres	brain
46	chr1:197096400-197106600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr1:197096800-197100000	Weak transcription	NHLF	lung
48	chr1:197096800-197101600	Strong transcription	GM12878-XiMat	blood
49	chr1:197097200-197100000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr1:197097200-197100200	Strong transcription	NHDF-Ad	bronchial

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