Variant report

Variant	rs6696012
Chromosome Location	chr1:173428749-173428750
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:173423508..173426333-chr1:173427997..173430407,3	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10753081	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10798282	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10912617	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10912618	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10912656	0.82[CHB][hapmap]
rs12092383	0.81[CHB][hapmap]
rs12140760	1.00[CHB][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs4255417	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4276950	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4325171	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4382766	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4611	0.84[ASN][1000 genomes]
rs4916220	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4916355	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4916358	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4916359	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4916361	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4916362	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4916363	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55654074	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6425231	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6425233	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6702835	0.96[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs7314	0.95[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs7537938	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7540065	0.95[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs7556003	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9425718	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9425719	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9425723	0.93[ASN][1000 genomes]
rs9425724	0.93[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831915	chr1:173268424-173482157	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:173376200-173429000	Weak transcription	Gastric	stomach
2	chr1:173387600-173429000	Weak transcription	Lung	lung
3	chr1:173391800-173429000	Weak transcription	Ovary	ovary
4	chr1:173400400-173429000	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr1:173400600-173428800	Weak transcription	Fetal Stomach	stomach
6	chr1:173400800-173429000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr1:173400800-173429000	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr1:173401000-173428800	Weak transcription	Brain Hippocampus Middle	brain
9	chr1:173401000-173429000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr1:173401000-173429000	Weak transcription	Left Ventricle	heart
11	chr1:173401800-173429000	Weak transcription	Primary B cells from cord blood	blood
12	chr1:173404200-173429000	Weak transcription	Adipose Nuclei	Adipose
13	chr1:173404200-173429000	Weak transcription	Right Ventricle	heart
14	chr1:173408800-173429000	Weak transcription	Brain Substantia Nigra	brain
15	chr1:173408800-173429000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr1:173409000-173428800	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr1:173409000-173428800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr1:173409000-173429200	Weak transcription	Aorta	Aorta
19	chr1:173411600-173428800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:173413400-173429200	Weak transcription	Placenta	Placenta
21	chr1:173414600-173429000	Weak transcription	Thymus	Thymus
22	chr1:173415600-173429000	Weak transcription	Brain Angular Gyrus	brain
23	chr1:173416000-173429000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr1:173416200-173429000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr1:173416400-173429000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr1:173416400-173430000	Weak transcription	Fetal Lung	lung
27	chr1:173416600-173429400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr1:173416800-173429000	Weak transcription	Fetal Muscle Leg	muscle
29	chr1:173416800-173430000	Weak transcription	Primary hematopoietic stem cells	blood
30	chr1:173416800-173430200	Weak transcription	GM12878-XiMat	blood
31	chr1:173418800-173429000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr1:173418800-173429000	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr1:173418800-173429000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr1:173419000-173429000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr1:173419000-173429200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr1:173419000-173432000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr1:173419000-173439000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr1:173419200-173428800	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr1:173419400-173429000	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr1:173419800-173429000	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr1:173421000-173432200	Weak transcription	Fetal Brain Male	brain
42	chr1:173421400-173429000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr1:173421400-173429000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr1:173421400-173429200	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr1:173421400-173429200	Weak transcription	HMEC	breast
46	chr1:173421400-173430000	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr1:173421400-173434000	Weak transcription	Psoas Muscle	Psoas
48	chr1:173421600-173429000	Weak transcription	Rectal Smooth Muscle	rectum
49	chr1:173421600-173429600	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr1:173421800-173429000	Weak transcription	HepG2	liver

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