Variant report

Variant	rs7538740
Chromosome Location	chr1:86094095-86094096
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:86042786..86044474-chr1:86092443..86094288,2	K562	blood:
2	chr1:86049608..86052158-chr1:86093207..86095698,2	MCF-7	breast:
3	chr1:86045129..86047121-chr1:86093559..86095071,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CYR61-2	chr1:86093997-86094487	NONHSAT004258

Variant related genes	Relation type
ENSG00000272691	Chromatin interaction
ENSG00000142871	Chromatin interaction
ENSG00000153904	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs55863151	0.85[AMR][1000 genomes]
rs56884931	0.85[AMR][1000 genomes]
rs57768694	0.85[AMR][1000 genomes]
rs60184734	0.85[AMR][1000 genomes]
rs61328391	0.85[AMR][1000 genomes]
rs6699712	0.85[AMR][1000 genomes]
rs72944688	0.85[AMR][1000 genomes]
rs72944702	0.85[AMR][1000 genomes]
rs74097059	0.85[AMR][1000 genomes]
rs74097060	0.85[AMR][1000 genomes]
rs74097061	0.85[AMR][1000 genomes]
rs74097066	0.85[AMR][1000 genomes]
rs74097067	0.85[AMR][1000 genomes]
rs74097075	0.85[AMR][1000 genomes]
rs74097079	0.85[AMR][1000 genomes]
rs74097081	0.85[AMR][1000 genomes]
rs74097082	0.85[AMR][1000 genomes]
rs74097084	0.85[AMR][1000 genomes]
rs74097085	0.85[AMR][1000 genomes]
rs7530774	0.85[AMR][1000 genomes]
rs7541996	0.85[AMR][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	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv3391173	chr1:86005637-86337469	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv1000290	chr1:86078495-86105379	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86079200-86094400	Weak transcription	Pancreas	Pancrea
2	chr1:86083800-86095200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:86083800-86103200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr1:86087400-86094400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr1:86088200-86094400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:86088200-86101800	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr1:86088400-86094200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr1:86088400-86101400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr1:86088400-86102000	Weak transcription	Duodenum Mucosa	Duodenum
10	chr1:86088400-86103000	Weak transcription	Brain Hippocampus Middle	brain
11	chr1:86088600-86094400	Weak transcription	Fetal Intestine Large	intestine
12	chr1:86088600-86094400	Weak transcription	Left Ventricle	heart
13	chr1:86088600-86094800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr1:86088600-86094800	Weak transcription	Right Ventricle	heart
15	chr1:86088600-86101800	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr1:86088600-86103000	Weak transcription	NHEK	skin
17	chr1:86088800-86094200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr1:86088800-86094200	Weak transcription	Liver	Liver
19	chr1:86088800-86094400	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr1:86088800-86094400	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr1:86088800-86094400	Weak transcription	Fetal Muscle Leg	muscle
22	chr1:86088800-86094600	Weak transcription	Fetal Intestine Small	intestine
23	chr1:86088800-86094800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr1:86088800-86094800	Weak transcription	Esophagus	oesophagus
25	chr1:86088800-86101000	Weak transcription	Dnd41	blood
26	chr1:86088800-86101800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr1:86088800-86101800	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr1:86089200-86094200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr1:86089200-86094200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr1:86089400-86094200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr1:86089400-86094400	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr1:86089400-86094400	Weak transcription	Placenta	Placenta
33	chr1:86089400-86094600	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr1:86089400-86094800	Weak transcription	Ovary	ovary
35	chr1:86089400-86102600	Weak transcription	GM12878-XiMat	blood
36	chr1:86089400-86103000	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr1:86089600-86094400	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr1:86090000-86094800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr1:86090400-86094400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr1:86091200-86103200	Weak transcription	Brain Angular Gyrus	brain
41	chr1:86091800-86095600	Strong transcription	Primary T cells from cord blood	blood
42	chr1:86091800-86102400	Weak transcription	Primary B cells from peripheral blood	blood
43	chr1:86091800-86107600	Weak transcription	Colonic Mucosa	Colon
44	chr1:86092200-86095400	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr1:86092200-86102000	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr1:86092400-86094400	Enhancers	HUVEC	blood vessel
47	chr1:86092400-86094600	Enhancers	Muscle Satellite Cultured Cells	--
48	chr1:86092400-86095200	Enhancers	Psoas Muscle	Psoas
49	chr1:86092600-86094800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr1:86092800-86094200	Enhancers	HepG2	liver

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