Variant report

Variant	rs6685459
Chromosome Location	chr1:197503933-197503934
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:197497659..197501669-chr1:197502330..197509273,8	K562	blood:
2	chr1:197498873..197501706-chr1:197501990..197505731,4	MCF-7	breast:
3	chr1:197502555..197505067-chr1:197869971..197872889,2	K562	blood:

Variant related genes	Relation type
ENSG00000203724	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10737689	0.82[AFR][1000 genomes]
rs10737690	0.85[AFR][1000 genomes]
rs10737691	0.95[AFR][1000 genomes]
rs10801610	0.85[AFR][1000 genomes]
rs10801611	0.85[AFR][1000 genomes]
rs10922241	0.83[AFR][1000 genomes]
rs10922245	0.85[AFR][1000 genomes]
rs1359458	0.85[AFR][1000 genomes]
rs1408841	0.85[AFR][1000 genomes]
rs1421389	0.83[AFR][1000 genomes]
rs1421396	0.85[AFR][1000 genomes]
rs1582409	0.85[AFR][1000 genomes]
rs1923757	0.85[AFR][1000 genomes]
rs2013617	0.83[AFR][1000 genomes]
rs3790737	0.83[AFR][1000 genomes]
rs4477311	1.00[AFR][1000 genomes]
rs4915547	0.82[AFR][1000 genomes]
rs4915548	0.85[AFR][1000 genomes]
rs6428408	0.83[AFR][1000 genomes]
rs6428409	1.00[AFR][1000 genomes]
rs6662893	1.00[AFR][1000 genomes]
rs6678240	0.85[AFR][1000 genomes]
rs7519686	0.85[AFR][1000 genomes]
rs7553327	0.83[AFR][1000 genomes]

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	nsv1014039	chr1:197311285-197529212	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv521647	chr1:197464448-197529218	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv873074	chr1:197464448-197698103	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv873075	chr1:197464448-197714851	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv4010	chr1:197471463-197511397	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	esv3529852	chr1:197499296-197504342	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv992847	chr1:197499789-197504257	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	esv2558030	chr1:197499844-197504117	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197478000-197541200	Weak transcription	Aorta	Aorta
2	chr1:197480000-197535800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr1:197480200-197541200	Weak transcription	Esophagus	oesophagus
4	chr1:197480200-197541200	Weak transcription	Fetal Thymus	thymus
5	chr1:197480400-197541200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr1:197481000-197507000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr1:197481200-197504200	Weak transcription	Duodenum Mucosa	Duodenum
8	chr1:197481200-197507200	Weak transcription	Dnd41	blood
9	chr1:197481200-197508000	Weak transcription	Left Ventricle	heart
10	chr1:197481200-197513400	Weak transcription	Adipose Nuclei	Adipose
11	chr1:197481400-197529600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr1:197482000-197508000	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr1:197482000-197508000	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr1:197482200-197507600	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr1:197482200-197507800	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr1:197487800-197536000	Weak transcription	Fetal Lung	lung
17	chr1:197491600-197520800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr1:197494600-197510200	Weak transcription	Thymus	Thymus
19	chr1:197495200-197510800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr1:197496200-197532400	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr1:197500600-197529400	Weak transcription	Primary hematopoietic stem cells	blood
22	chr1:197502200-197508000	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr1:197502200-197531800	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr1:197502400-197534600	Weak transcription	Fetal Intestine Large	intestine
25	chr1:197503200-197510000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr1:197503200-197524000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr1:197503200-197526400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr1:197503200-197541200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr1:197503400-197504600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr1:197503400-197505000	Strong transcription	Primary T cells from cord blood	blood
31	chr1:197503400-197510000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr1:197503600-197504400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr1:197503600-197505200	Strong transcription	Rectal Mucosa Donor 31	rectum
34	chr1:197503600-197514400	Weak transcription	Right Ventricle	heart
35	chr1:197503600-197535800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr1:197503800-197507600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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