Variant report

Variant	rs673254
Chromosome Location	chr1:10550352-10550353
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:10549510..10553180-chr1:10560957..10564182,4	K562	blood:
2	chr1:10549897..10551721-chr1:10551750..10553433,2	K562	blood:
3	chr1:10548374..10550861-chr1:10557856..10560546,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10746494	0.81[EUR][1000 genomes]
rs11121579	1.00[CEU][hapmap];0.87[YRI][hapmap];1.00[EUR][1000 genomes]
rs1203122	0.90[EUR][1000 genomes]
rs12073943	0.85[EUR][1000 genomes]
rs12565133	0.96[CEU][hapmap];0.86[YRI][hapmap];0.98[EUR][1000 genomes]
rs1307485	0.96[CEU][hapmap];0.80[EUR][1000 genomes]
rs1307487	0.80[EUR][1000 genomes]
rs17035189	0.84[CEU][hapmap]
rs1755592	0.82[EUR][1000 genomes]
rs2186949	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2781233	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs481571	0.96[CEU][hapmap]
rs491880	0.96[CEU][hapmap]
rs505141	0.96[CEU][hapmap]
rs528713	0.96[CEU][hapmap]
rs585406	0.84[EUR][1000 genomes]
rs586223	0.92[CEU][hapmap]
rs597441	0.92[CEU][hapmap]
rs634358	0.96[CEU][hapmap]
rs649101	0.92[CEU][hapmap]
rs655271	0.97[EUR][1000 genomes]
rs663864	1.00[EUR][1000 genomes]
rs670666	1.00[CEU][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs672606	0.91[EUR][1000 genomes]
rs684016	0.96[CEU][hapmap];0.90[EUR][1000 genomes]
rs685746	0.82[YRI][hapmap]
rs7419116	0.81[CEU][hapmap]
rs7548453	0.84[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757722	chr1:10238070-10582554	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv2758920	chr1:10238070-10582554	Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv817370	chr1:10305470-10697150	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv1008021	chr1:10363794-10802633	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	esv2764192	chr1:10383734-10594186	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv1003498	chr1:10445928-10607351	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS 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 target site	26 gene(s)	inside rSNPs	diseases
7	nsv998731	chr1:10464176-10607351	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10535800-10555000	Weak transcription	Aorta	Aorta
2	chr1:10536000-10555000	Weak transcription	Esophagus	oesophagus
3	chr1:10536000-10555000	Weak transcription	HSMMtube	muscle
4	chr1:10536000-10555600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:10536200-10555000	Weak transcription	NH-A	brain
6	chr1:10536400-10553000	Weak transcription	Psoas Muscle	Psoas
7	chr1:10536400-10554000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr1:10536400-10554600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr1:10536400-10554800	Weak transcription	Primary hematopoietic stem cells	blood
10	chr1:10536400-10554800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr1:10536400-10554800	Weak transcription	Fetal Brain Male	brain
12	chr1:10536400-10554800	Weak transcription	NHDF-Ad	bronchial
13	chr1:10536400-10555000	Weak transcription	Fetal Kidney	kidney
14	chr1:10536400-10555000	Weak transcription	HSMM	muscle
15	chr1:10536600-10554800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr1:10536600-10555000	Weak transcription	Brain Substantia Nigra	brain
17	chr1:10536800-10554600	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr1:10536800-10554600	Weak transcription	Pancreas	Pancrea
19	chr1:10536800-10554600	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr1:10537000-10554600	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr1:10537000-10554800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr1:10537000-10554800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr1:10537600-10554800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr1:10537800-10554400	Weak transcription	Dnd41	blood
25	chr1:10540600-10555600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr1:10545200-10554600	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr1:10545200-10554600	Weak transcription	Osteobl	bone
28	chr1:10545200-10554800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr1:10545400-10554800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr1:10548800-10550400	Strong transcription	K562	blood
31	chr1:10549000-10550400	Enhancers	HepG2	liver
32	chr1:10549000-10550600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr1:10549000-10550600	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr1:10549000-10551600	Genic enhancers	Fetal Intestine Small	intestine
35	chr1:10549000-10552000	Enhancers	Fetal Intestine Large	intestine
36	chr1:10549200-10550600	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr1:10549200-10550600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr1:10549200-10550800	Flanking Active TSS	Liver	Liver
39	chr1:10549200-10551400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr1:10549400-10550400	Strong transcription	Primary T helper cells fromperipheralblood	blood
41	chr1:10549400-10550400	Genic enhancers	Adipose Nuclei	Adipose
42	chr1:10549400-10550400	Enhancers	Duodenum Mucosa	Duodenum
43	chr1:10549400-10550600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr1:10549400-10550600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr1:10549400-10550600	Strong transcription	Primary B cells from peripheral blood	blood
46	chr1:10549400-10550600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr1:10549400-10550600	Enhancers	Pancreatic Islets	Pancreatic Islet
48	chr1:10549400-10550600	Strong transcription	Skeletal Muscle Female	skeletal muscle
49	chr1:10549400-10550800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr1:10549400-10550800	Strong transcription	Primary T cells from cord blood	blood

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