Variant report

Variant	rs6659669
Chromosome Location	chr1:185315067-185315068
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:185314611..185317426-chr1:185402950..185405222,2	K562	blood:
2	chr1:185308094..185310941-chr1:185314344..185316672,2	MCF-7	breast:
3	chr1:185285222..185287975-chr1:185313401..185316015,2	K562	blood:

Variant related genes	Relation type
ENSG00000116679	Chromatin interaction
ENSG00000270920	Chromatin interaction
ENSG00000252407	Chromatin interaction
ENSG00000273004	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10157996	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10737258	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10752948	1.00[CEU][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10911706	0.92[EUR][1000 genomes]
rs10911711	0.91[AFR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2207517	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2207518	0.90[EUR][1000 genomes]
rs2207519	0.90[EUR][1000 genomes]
rs2295212	0.92[EUR][1000 genomes]
rs4651253	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6424975	0.96[CEU][hapmap];0.93[EUR][1000 genomes]
rs6424976	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap]
rs6665186	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs6679327	0.90[AFR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6682074	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6689206	0.97[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs7519628	0.81[ASN][1000 genomes]
rs7548599	0.89[EUR][1000 genomes]
rs9988622	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS 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	69 gene(s)	inside rSNPs	diseases
2	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv548398	chr1:185136458-186003094	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
4	esv2756872	chr1:185293197-185345771	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	esv2758981	chr1:185293197-185345771	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185308800-185317600	Weak transcription	Duodenum Mucosa	Duodenum
2	chr1:185309400-185315400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr1:185309600-185315200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr1:185310200-185315200	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr1:185310200-185315200	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr1:185310200-185315400	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr1:185310400-185315200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr1:185310800-185315200	Weak transcription	Primary T cells from cord blood	blood
9	chr1:185310800-185315200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr1:185310800-185318600	Enhancers	HepG2	liver
11	chr1:185311000-185315200	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr1:185311000-185315400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr1:185311000-185315600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr1:185313200-185315400	Weak transcription	Ovary	ovary
15	chr1:185313200-185317400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr1:185313600-185316400	Enhancers	Primary B cells from peripheral blood	blood
17	chr1:185313800-185315200	Weak transcription	Brain Anterior Caudate	brain
18	chr1:185313800-185315400	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr1:185313800-185315400	Weak transcription	Brain Substantia Nigra	brain
20	chr1:185313800-185327800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr1:185314200-185318600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr1:185314400-185316400	Enhancers	Primary B cells from cord blood	blood
23	chr1:185314400-185316600	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr1:185314600-185316600	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr1:185314800-185315600	Enhancers	Pancreatic Islets	Pancreatic Islet
26	chr1:185314800-185315600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr1:185314800-185316600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr1:185315000-185315200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr1:185315000-185315600	Enhancers	GM12878-XiMat	blood
30	chr1:185315000-185316400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr1:185315000-185316600	Enhancers	Primary hematopoietic stem cells	blood

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