Variant report

Variant	rs6685974
Chromosome Location	chr1:171837604-171837605
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	chr1:171832502..171835354-chr1:171836548..171838388,2	K562	blood:

Variant related genes	Relation type
ENSG00000233540	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs1022541	0.85[ASN][1000 genomes]
rs1040517	0.85[ASN][1000 genomes]
rs10737338	0.84[ASN][1000 genomes]
rs10753202	0.85[ASN][1000 genomes]
rs10753203	0.83[ASN][1000 genomes]
rs10753204	0.85[ASN][1000 genomes]
rs10753205	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1076700	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10798695	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10798701	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10798702	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10798705	0.84[ASN][1000 genomes]
rs10798706	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10798716	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10798722	0.85[ASN][1000 genomes]
rs10798725	0.85[ASN][1000 genomes]
rs10798726	0.85[ASN][1000 genomes]
rs10913908	0.85[ASN][1000 genomes]
rs1118173	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11808234	0.86[AMR][1000 genomes]
rs12021814	0.83[ASN][1000 genomes]
rs12239702	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12405583	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1535301	0.83[ASN][1000 genomes]
rs1555100	0.83[ASN][1000 genomes]
rs1972340	0.82[ASN][1000 genomes]
rs1980488	0.85[ASN][1000 genomes]
rs2206543	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2235696	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2421915	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2421947	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2901600	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4500358	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4916235	0.84[ASN][1000 genomes]
rs4916400	0.84[ASN][1000 genomes]
rs4916401	0.84[ASN][1000 genomes]
rs4916402	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4916403	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4916404	0.85[ASN][1000 genomes]
rs6425454	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6425455	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6425456	0.84[ASN][1000 genomes]
rs6425468	0.85[ASN][1000 genomes]
rs6657315	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6660011	0.85[ASN][1000 genomes]
rs6665335	0.84[ASN][1000 genomes]
rs6679341	0.85[ASN][1000 genomes]
rs6683945	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6686260	0.83[ASN][1000 genomes]
rs6690848	0.83[ASN][1000 genomes]
rs6701033	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6702944	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs71523161	0.83[ASN][1000 genomes]
rs742509	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs742510	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7514627	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7517331	0.84[ASN][1000 genomes]
rs7526653	0.84[ASN][1000 genomes]
rs7554700	0.85[ASN][1000 genomes]
rs7554935	0.85[ASN][1000 genomes]
rs926545	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs926546	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs965051	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3512995	chr1:171329123-171994470	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	esv3512997	chr1:171329123-171994470	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv831893	chr1:171802450-171985000	Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171828400-171850800	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr1:171833200-171838200	Weak transcription	NHEK	skin
3	chr1:171833800-171838200	Weak transcription	Brain Substantia Nigra	brain
4	chr1:171833800-171838600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr1:171836400-171838400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr1:171837200-171837800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr1:171837200-171837800	Enhancers	Adipose Nuclei	Adipose
8	chr1:171837200-171837800	Enhancers	HSMMtube	muscle
9	chr1:171837200-171838600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:171837200-171838600	Enhancers	HMEC	breast
11	chr1:171837200-171838800	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr1:171837200-171838800	Enhancers	Brain Cingulate Gyrus	brain
13	chr1:171837200-171839000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr1:171837200-171839400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr1:171837200-171840000	Enhancers	Brain Hippocampus Middle	brain
16	chr1:171837200-171841800	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr1:171837400-171837800	Enhancers	Fetal Heart	heart
18	chr1:171837400-171837800	Enhancers	Fetal Lung	lung
19	chr1:171837400-171837800	Enhancers	HUVEC	blood vessel
20	chr1:171837400-171838600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr1:171837600-171837800	Enhancers	Brain Angular Gyrus	brain
22	chr1:171837600-171837800	Enhancers	Brain Anterior Caudate	brain
23	chr1:171837600-171837800	Enhancers	Pancreatic Islets	Pancreatic Islet
24	chr1:171837600-171838000	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr1:171837600-171838000	Weak transcription	Cortex derived primary cultured neurospheres	brain

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