Variant report

Variant	rs3767194
Chromosome Location	chr1:180125366-180125367
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:180094856..180097003-chr1:180124933..180127557,2	K562	blood:
2	chr1:179849468..179853023-chr1:180122560..180126275,4	K562	blood:
3	chr1:180123935..180126561-chr1:180199070..180201304,3	MCF-7	breast:
4	chr1:180112122..180113810-chr1:180124529..180126032,2	MCF-7	breast:
5	chr1:179843719..179847778-chr1:180121939..180127812,8	K562	blood:
6	chr1:180051158..180053588-chr1:180124507..180126558,2	K562	blood:
7	chr1:180061211..180064450-chr1:180123630..180126274,3	MCF-7	breast:
8	chr1:180094624..180096269-chr1:180125316..180126971,2	MCF-7	breast:
9	chr1:179845447..179846955-chr1:180125305..180127512,2	K562	blood:
10	chr1:179850220..179853546-chr1:180124207..180127412,4	MCF-7	breast:
11	chr1:180075321..180078076-chr1:180124133..180126626,2	K562	blood:
12	chr1:180067842..180070098-chr1:180124230..180125960,2	MCF-7	breast:
13	chr1:180039217..180042128-chr1:180125172..180126963,2	K562	blood:
14	chr1:179922139..179925093-chr1:180123797..180126783,3	K562	blood:
15	chr1:180095863..180097872-chr1:180124437..180126586,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000169905	Chromatin interaction
ENSG00000135837	Chromatin interaction
ENSG00000272906	Chromatin interaction
ENSG00000143337	Chromatin interaction
ENSG00000260360	Chromatin interaction
ENSG00000121454	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs12022994	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12034707	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12034708	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12036985	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2275809	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2298205	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3738115	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3753806	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3753807	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3753808	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3753810	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3753813	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3767168	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3767186	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3767187	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3767188	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3767195	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3795506	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3820309	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55700062	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55710113	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56150169	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56151584	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56882898	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57163857	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57306173	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57587074	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57807046	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59644903	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60471708	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60836685	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72710693	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72710699	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429936	chr1:179790343-180214343	Active TSS Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv1003739	chr1:180027760-180483292	Enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	nsv535217	chr1:180027760-180483292	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
4	nsv1012558	chr1:180027960-180217613	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv535218	chr1:180027960-180217613	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv497930	chr1:180031321-180220723	Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv533073	chr1:180031328-180217612	Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
8	nsv916937	chr1:180031328-180220685	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
9	nsv1007590	chr1:180121480-180236452	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
10	nsv999104	chr1:180121480-180242659	Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
11	esv3355160	chr1:180122754-180125702	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180122800-180125400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
2	chr1:180123000-180125600	Active TSS	Left Ventricle	heart
3	chr1:180123200-180125400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr1:180123200-180125400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:180123200-180125400	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr1:180123200-180125400	Active TSS	Ovary	ovary
7	chr1:180123200-180125400	Active TSS	HSMM	muscle
8	chr1:180123200-180125600	Active TSS	Duodenum Smooth Muscle	Duodenum
9	chr1:180123400-180125400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:180123400-180125400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:180123400-180125600	Active TSS	Stomach Mucosa	stomach
12	chr1:180123600-180125400	Active TSS	Fetal Brain Male	brain
13	chr1:180123600-180125600	Active TSS	NHLF	lung
14	chr1:180124000-180126000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr1:180124200-180125600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr1:180124400-180125400	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
17	chr1:180124400-180125600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
18	chr1:180124400-180125600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr1:180124400-180126800	Flanking Active TSS	Duodenum Mucosa	Duodenum
20	chr1:180124600-180125400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
21	chr1:180124600-180125600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
22	chr1:180124600-180125600	Flanking Active TSS	Brain Substantia Nigra	brain
23	chr1:180124600-180125600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
24	chr1:180124600-180125600	Flanking Active TSS	HMEC	breast
25	chr1:180124600-180125800	Flanking Active TSS	HUVEC	blood vessel
26	chr1:180124600-180126000	Flanking Active TSS	Brain Cingulate Gyrus	brain
27	chr1:180124600-180126200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
28	chr1:180124600-180126200	Flanking Active TSS	K562	blood
29	chr1:180124600-180126400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr1:180124600-180126600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr1:180124600-180126600	Flanking Active TSS	NHEK	skin
32	chr1:180124600-180126800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
33	chr1:180124600-180127200	Flanking Active TSS	NH-A	brain
34	chr1:180124600-180129400	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr1:180124800-180125600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr1:180124800-180125800	Flanking Active TSS	Brain Hippocampus Middle	brain
37	chr1:180124800-180125800	Flanking Active TSS	Stomach Smooth Muscle	stomach
38	chr1:180124800-180126000	Flanking Active TSS	Fetal Stomach	stomach
39	chr1:180124800-180126800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
40	chr1:180124800-180127000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr1:180124800-180127000	Enhancers	Spleen	Spleen
42	chr1:180124800-180128000	Enhancers	Liver	Liver
43	chr1:180124800-180151000	Weak transcription	Aorta	Aorta
44	chr1:180125000-180125400	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
45	chr1:180125000-180125400	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr1:180125000-180125400	Enhancers	Adipose Nuclei	Adipose
47	chr1:180125000-180125400	Active TSS	Colonic Mucosa	Colon
48	chr1:180125000-180125400	Active TSS	Pancreas	Pancrea
49	chr1:180125000-180125400	Active TSS	Right Ventricle	heart
50	chr1:180125000-180125600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived

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