Variant report

Variant	rs6691922
Chromosome Location	chr1:173814004-173814005
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	chr1:173812839..173816033-chr1:173816444..173819357,4	K562	blood:
2	chr1:173813848..173815354-chr1:173868655..173871235,2	MCF-7	breast:

Extended variants
information (count: 87 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs10081990	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10158663	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10798298	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10912677	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10912678	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10912680	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10912682	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10912684	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1115487	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11487392	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs12067571	0.89[AMR][1000 genomes]
rs12070556	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12080389	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs12082206	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12083423	0.88[AMR][1000 genomes]
rs12085748	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12085894	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12094130	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12095090	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12096832	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12098124	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs1322771	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1322772	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13375555	0.88[AMR][1000 genomes]
rs1474907	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16846383	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16846420	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2224657	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28578576	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56124923	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59845733	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6425257	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6658217	0.83[AMR][1000 genomes]
rs6663880	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6675762	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6686455	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6689764	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6691327	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6692452	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6695782	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6698348	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6702485	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7518130	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7522788	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7534521	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7536773	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7544583	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs7550036	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7552840	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9282959	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9282960	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9286886	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9286887	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9286890	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9286894	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9425415	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9425418	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9425419	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9425420	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9425421	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9425422	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9425423	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9425424	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9425425	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9425426	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9425734	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9425736	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9425738	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9425740	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9425741	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9425742	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9425746	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9425747	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9425750	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9425751	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9425752	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9425758	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9425759	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9425761	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9425774	0.83[AMR][1000 genomes]
rs9442660	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9970488	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9970633	0.85[AFR][1000 genomes];1.00[AMR][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	nsv1012384	chr1:173614816-173974426	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	294 gene(s)	inside rSNPs	diseases
2	nsv831926	chr1:173702403-173894667	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	291 gene(s)	inside rSNPs	diseases
3	esv2757761	chr1:173810642-173955943	Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	264 gene(s)	inside rSNPs	diseases
4	esv2758978	chr1:173810642-173955943	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	264 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:173794400-173832800	Weak transcription	Fetal Heart	heart
2	chr1:173794600-173814600	Weak transcription	Esophagus	oesophagus
3	chr1:173794600-173820600	Weak transcription	NHLF	lung
4	chr1:173794600-173821800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:173794600-173821800	Weak transcription	Pancreas	Pancrea
6	chr1:173794600-173822000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr1:173794600-173832000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr1:173794600-173832000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr1:173794600-173832600	Weak transcription	Brain Substantia Nigra	brain
10	chr1:173794600-173833800	Weak transcription	Stomach Mucosa	stomach
11	chr1:173794800-173834000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr1:173795000-173826200	Weak transcription	Psoas Muscle	Psoas
13	chr1:173795000-173834600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr1:173795200-173822400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr1:173795200-173824600	Weak transcription	Gastric	stomach
16	chr1:173795400-173817400	Weak transcription	Fetal Brain Male	brain
17	chr1:173796000-173818000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:173796200-173817800	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr1:173797200-173828400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr1:173797800-173815800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr1:173798400-173815600	Strong transcription	Dnd41	blood
22	chr1:173798800-173816000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr1:173799400-173814200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr1:173799400-173815800	Strong transcription	Placenta	Placenta
25	chr1:173799400-173815800	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr1:173799400-173820400	Strong transcription	Fetal Intestine Large	intestine
27	chr1:173799600-173814800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr1:173799600-173817000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr1:173799600-173828800	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr1:173799800-173815600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr1:173799800-173816000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr1:173801000-173822200	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr1:173801200-173825000	Weak transcription	Brain Angular Gyrus	brain
34	chr1:173802000-173816000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr1:173802000-173816000	Strong transcription	Fetal Muscle Leg	muscle
36	chr1:173802000-173816000	Strong transcription	Fetal Thymus	thymus
37	chr1:173802200-173817800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr1:173802600-173816000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr1:173803000-173826600	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr1:173804600-173819000	Weak transcription	GM12878-XiMat	blood
41	chr1:173804800-173816000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr1:173805200-173816400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
43	chr1:173805800-173816000	Strong transcription	HUES6 Cell Line	embryonic stem cell
44	chr1:173806400-173816600	Strong transcription	Fetal Muscle Trunk	muscle
45	chr1:173806800-173815600	Strong transcription	Thymus	Thymus
46	chr1:173806800-173822800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr1:173807200-173814600	Weak transcription	Spleen	Spleen
48	chr1:173809000-173822000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr1:173809200-173825200	Weak transcription	NHDF-Ad	bronchial
50	chr1:173809400-173816000	Strong transcription	Fetal Intestine Small	intestine

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