Variant report

Variant	rs72927617
Chromosome Location	chr1:62191551-62191552
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr1:62190487-62191590	IMR90	lung:	n/a	n/a
2	POLR2A	chr1:62190149-62191715	GM12891	blood:	n/a	n/a
3	TBL1XR1	chr1:62190386-62191808	K562	blood:	n/a	n/a
4	HCFC1	chr1:62190072-62191604	Hela-S3	cervix:	n/a	n/a
5	CUX1	chr1:62190652-62191555	GM12878	blood:	n/a	n/a
6	POLR2A	chr1:62189227-62191608	MCF10A-Er-Src	breast:	n/a	n/a
7	STAT3	chr1:62190879-62191670	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr1:62189843-62191858	Hela-S3	cervix:	n/a	n/a
9	CUX1	chr1:62190228-62191614	K562	blood:	n/a	n/a
10	BRCA1	chr1:62190513-62191570	Hela-S3	cervix:	n/a	n/a
11	MXI1	chr1:62190456-62191708	GM12878	blood:	n/a	n/a
12	MYC	chr1:62190288-62191643	K562	blood:	n/a	n/a
13	NFYA	chr1:62190759-62191617	Hela-S3	cervix:	n/a	chr1:62191069-62191082
14	KAP1	chr1:62191174-62191591	K562	blood:	n/a	n/a
15	KAP1	chr1:62190419-62191567	U2OS	brain:	n/a	n/a
16	JUN	chr1:62190190-62191809	K562	blood:	n/a	chr1:62190429-62190438

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:62190630..62191606-chr1:62207469..62208515,4	Hela-S3	cervix:
2	chr1:62148615..62150124-chr1:62189264..62192017,2	MCF-7	breast:
3	chr1:62190320..62192154-chr1:62900473..62901978,2	MCF-7	breast:
4	chr1:62173473..62177807-chr1:62188633..62191997,6	K562	blood:
5	chr1:62190770..62191552-chr17:6544028..6544721,2	Hela-S3	cervix:
6	chr1:62149064..62151297-chr1:62189288..62192078,2	K562	blood:
7	chr1:62188914..62195188-chr1:62202056..62212232,19	MCF-7	breast:
8	chr1:62187463..62192137-chr1:62206143..62210486,9	MCF-7	breast:

No data

Variant related genes	Relation type
TM2D1	TF binding region
ENSG00000132849	Chromatin interaction
ENSG00000129235	Chromatin interaction
ENSG00000271200	Chromatin interaction
ENSG00000198920	Chromatin interaction
ENSG00000162607	Chromatin interaction
ENSG00000162604	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10493311	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11539585	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11578760	0.81[AFR][1000 genomes]
rs11802679	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11805607	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13375232	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1353424	1.00[EUR][1000 genomes]
rs1390450	0.82[AFR][1000 genomes]
rs17122675	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17122684	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17122726	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17122742	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1890262	1.00[EUR][1000 genomes]
rs2051137	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57862885	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57901641	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61285999	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6698090	1.00[EUR][1000 genomes]
rs72925623	1.00[EUR][1000 genomes]
rs72925628	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72925658	1.00[AMR][1000 genomes]
rs72925685	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72925687	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72927635	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7544197	1.00[EUR][1000 genomes]
rs7551993	1.00[EUR][1000 genomes]
rs7554012	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv994970	chr1:61693951-62199657	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1000294	chr1:61746280-62350718	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62189200-62191600	Active TSS	K562	blood
2	chr1:62189400-62191600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:62189400-62191600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr1:62189400-62191600	Active TSS	Fetal Lung	lung
5	chr1:62189400-62191800	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr1:62189400-62191800	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr1:62189400-62191800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr1:62189600-62191600	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr1:62189600-62191600	Active TSS	Brain Angular Gyrus	brain
10	chr1:62189600-62191600	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr1:62189600-62191600	Active TSS	Right Atrium	heart
12	chr1:62189600-62191600	Active TSS	Stomach Smooth Muscle	stomach
13	chr1:62189600-62191600	Active TSS	A549	lung
14	chr1:62189600-62191600	Active TSS	NHDF-Ad	bronchial
15	chr1:62189800-62191600	Active TSS	H1 Cell Line	embryonic stem cell
16	chr1:62189800-62191600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr1:62189800-62191600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr1:62189800-62191600	Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr1:62189800-62191600	Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr1:62189800-62191600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr1:62189800-62191600	Active TSS	Brain Inferior Temporal Lobe	brain
22	chr1:62189800-62191800	Active TSS	GM12878-XiMat	blood
23	chr1:62190000-62191600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr1:62190000-62191600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr1:62190000-62191600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr1:62190000-62191600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr1:62190000-62191600	Active TSS	Aorta	Aorta
28	chr1:62190000-62191600	Active TSS	Brain Anterior Caudate	brain
29	chr1:62190000-62191600	Active TSS	Fetal Intestine Small	intestine
30	chr1:62190000-62191600	Active TSS	Fetal Stomach	stomach
31	chr1:62190000-62191600	Active TSS	Rectal Smooth Muscle	rectum
32	chr1:62190000-62191600	Active TSS	NHEK	skin
33	chr1:62190200-62191600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr1:62190200-62191600	Active TSS	Brain Hippocampus Middle	brain
35	chr1:62190200-62191600	Active TSS	Brain Substantia Nigra	brain
36	chr1:62190200-62191600	Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr1:62190200-62191600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
38	chr1:62190200-62191600	Active TSS	Fetal Muscle Leg	muscle
39	chr1:62190200-62191600	Active TSS	Fetal Thymus	thymus
40	chr1:62190200-62191600	Active TSS	Rectal Mucosa Donor 29	rectum
41	chr1:62190200-62191600	Active TSS	Rectal Mucosa Donor 31	rectum
42	chr1:62190200-62191800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
43	chr1:62190200-62191800	Active TSS	Colon Smooth Muscle	Colon
44	chr1:62190400-62191600	Active TSS	Liver	Liver
45	chr1:62190400-62191600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
46	chr1:62190600-62191600	Active TSS	Primary T cells fromperipheralblood	blood
47	chr1:62190800-62191600	Active TSS	Brain Germinal Matrix	brain
48	chr1:62190800-62191600	Active TSS	Skeletal Muscle Male	skeletal muscle
49	chr1:62191000-62191600	Flanking Active TSS	Primary B cells from cord blood	blood
50	chr1:62191000-62191600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood

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