Variant report

Variant	rs72993686
Chromosome Location	chr1:152019082-152019083
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:152018576..152021368-chr17:59488179..59489785,2	MCF-7	breast:
2	chr1:152004043..152013121-chr1:152013584..152022966,19	K562	blood:
3	chr1:151734439..151736812-chr1:152018817..152020911,2	MCF-7	breast:
4	chr1:152017581..152019918-chr1:152019970..152022328,2	K562	blood:
5	chr1:151797506..151800180-chr1:152018704..152020909,2	MCF-7	breast:
6	chr1:151961745..151973594-chr1:152015769..152025096,31	MCF-7	breast:

Variant related genes	Relation type
ENSG00000197747	Chromatin interaction
ENSG00000143450	Chromatin interaction
ENSG00000143365	Chromatin interaction
ENSG00000229021	Chromatin interaction
ENSG00000187013	Chromatin interaction
ENSG00000143436	Chromatin interaction
ENSG00000163191	Chromatin interaction
ENSG00000267280	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs16833807	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16833809	0.83[ASN][1000 genomes]
rs16833811	0.92[ASN][1000 genomes]
rs16833817	0.92[ASN][1000 genomes]
rs2338311	0.83[ASN][1000 genomes]
rs72477383	0.83[ASN][1000 genomes]
rs72477384	0.83[ASN][1000 genomes]
rs72477385	0.83[ASN][1000 genomes]
rs72477387	0.83[ASN][1000 genomes]
rs72993684	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs72993689	0.92[ASN][1000 genomes]
rs72993691	0.83[ASN][1000 genomes]
rs7416722	0.83[ASN][1000 genomes]
rs7540075	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007097	chr1:151832796-152227977	Strong transcription Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
2	nsv1012327	chr1:151835544-152200890	Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
3	nsv535159	chr1:151835544-152200890	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
4	nsv872441	chr1:151850072-152034430	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	191 gene(s)	inside rSNPs	diseases
5	nsv547853	chr1:152008671-152236760	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:152009600-152019800	Weak transcription	Small Intestine	intestine
2	chr1:152010000-152019800	Weak transcription	Primary T cells from cord blood	blood
3	chr1:152010000-152020000	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr1:152010200-152020000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr1:152010200-152020000	Weak transcription	Colonic Mucosa	Colon
6	chr1:152010200-152020400	Weak transcription	Gastric	stomach
7	chr1:152011400-152019600	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr1:152012600-152019200	Weak transcription	Esophagus	oesophagus
9	chr1:152012800-152019600	Weak transcription	Duodenum Mucosa	Duodenum
10	chr1:152012800-152019600	Weak transcription	Thymus	Thymus
11	chr1:152016000-152020000	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr1:152016000-152020000	Enhancers	Placenta	Placenta
13	chr1:152016600-152019200	Weak transcription	Fetal Intestine Small	intestine
14	chr1:152016600-152019600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr1:152016800-152019200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr1:152016800-152020000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr1:152017000-152020000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr1:152017000-152020000	Weak transcription	Right Atrium	heart
19	chr1:152017400-152019400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr1:152017400-152019400	Weak transcription	Fetal Thymus	thymus
21	chr1:152017400-152019400	Weak transcription	NHDF-Ad	bronchial
22	chr1:152017400-152019600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr1:152017400-152020000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr1:152017600-152019800	Weak transcription	Adipose Nuclei	Adipose
25	chr1:152017800-152019800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr1:152018000-152019400	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr1:152018000-152019800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr1:152018000-152019800	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr1:152018000-152019800	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr1:152018000-152019800	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr1:152018000-152019800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr1:152018000-152020000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr1:152018000-152020600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr1:152018000-152021000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr1:152018200-152019400	Enhancers	Primary neutrophils fromperipheralblood	blood
36	chr1:152018200-152019800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr1:152018200-152020000	Enhancers	Fetal Intestine Large	intestine
38	chr1:152018400-152019200	Enhancers	NHEK	skin
39	chr1:152018400-152019600	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr1:152018600-152019200	Enhancers	Hela-S3	cervix
41	chr1:152018600-152019400	Enhancers	HMEC	breast
42	chr1:152018600-152019800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr1:152018600-152019800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr1:152018600-152019800	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr1:152018600-152019800	Enhancers	K562	blood
46	chr1:152018600-152020000	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr1:152018600-152020200	Enhancers	Primary T cells fromperipheralblood	blood
48	chr1:152018600-152020400	Enhancers	Placenta Amnion	Placenta Amnion
49	chr1:152018600-152020600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
50	chr1:152018600-152021600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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