Variant report

Variant	rs6690603
Chromosome Location	chr1:184662659-184662660
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:184660734..184663432-chr1:184719379..184720906,2	MCF-7	breast:
2	chr1:184662527..184664515-chr1:184667371..184668893,2	MCF-7	breast:
3	chr1:184355848..184357753-chr1:184661585..184663546,2	MCF-7	breast:
4	chr1:184657884..184659599-chr1:184661545..184663873,2	K562	blood:
5	chr1:184019721..184021279-chr1:184661533..184663117,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198860	Chromatin interaction
ENSG00000116667	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11804210	1.00[ASN][1000 genomes]
rs4131995	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56335635	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58395537	0.95[ASN][1000 genomes]
rs60400761	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6660367	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs66640078	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67386341	0.95[ASN][1000 genomes]
rs7512112	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7513276	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7542913	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9286853	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9660114	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9660352	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9661302	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2756618	chr1:184393343-184674343	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription 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	10 gene(s)	inside rSNPs	diseases
2	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
3	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
4	nsv832037	chr1:184568194-184756597	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv917126	chr1:184655366-184902273	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv832048	chr1:184660146-184858802	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184641400-184672800	Weak transcription	Gastric	stomach
2	chr1:184649400-184662800	Weak transcription	Osteobl	bone
3	chr1:184653200-184705000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:184654000-184662800	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr1:184654000-184710800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:184654200-184672000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr1:184654200-184701200	Weak transcription	Stomach Mucosa	stomach
8	chr1:184654200-184710000	Weak transcription	Esophagus	oesophagus
9	chr1:184654400-184675400	Weak transcription	Pancreas	Pancrea
10	chr1:184654600-184665800	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr1:184654600-184672400	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr1:184654800-184669600	Weak transcription	Fetal Lung	lung
13	chr1:184655000-184664400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr1:184655800-184663200	Weak transcription	Brain Germinal Matrix	brain
15	chr1:184656000-184672000	Weak transcription	HepG2	liver
16	chr1:184656400-184672800	Weak transcription	Spleen	Spleen
17	chr1:184656600-184670200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr1:184656600-184684000	Weak transcription	Fetal Heart	heart
19	chr1:184657000-184672600	Weak transcription	Lung	lung
20	chr1:184657200-184672800	Weak transcription	Fetal Intestine Small	intestine
21	chr1:184657400-184672800	Weak transcription	Fetal Stomach	stomach
22	chr1:184657800-184670200	Weak transcription	HMEC	breast
23	chr1:184658400-184706800	Strong transcription	Primary neutrophils fromperipheralblood	blood
24	chr1:184658600-184662800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr1:184658600-184665400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr1:184659000-184672600	Weak transcription	Aorta	Aorta
27	chr1:184659200-184668400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr1:184659200-184707000	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr1:184659400-184676800	Weak transcription	Fetal Brain Male	brain
30	chr1:184660000-184704200	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr1:184660200-184662800	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr1:184660600-184662800	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr1:184660600-184662800	Weak transcription	Thymus	Thymus
34	chr1:184660800-184664400	Weak transcription	Stomach Smooth Muscle	stomach
35	chr1:184660800-184664600	Weak transcription	NHLF	lung
36	chr1:184660800-184669200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr1:184660800-184680400	Weak transcription	Right Ventricle	heart
38	chr1:184661000-184662800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr1:184661000-184665800	Strong transcription	K562	blood
40	chr1:184661000-184678600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr1:184661000-184705600	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr1:184661200-184665200	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr1:184661200-184690400	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr1:184661200-184707800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr1:184661400-184666200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr1:184661400-184671200	Weak transcription	Fetal Kidney	kidney
47	chr1:184661400-184678600	Strong transcription	Liver	Liver
48	chr1:184661400-184690400	Strong transcription	Duodenum Mucosa	Duodenum
49	chr1:184661600-184663200	Strong transcription	Brain Cingulate Gyrus	brain
50	chr1:184661600-184663200	Strong transcription	HSMM	muscle

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