Variant report

Variant	rs72993675
Chromosome Location	chr1:152004232-152004233
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:152004043..152013121-chr1:152013584..152022966,19	K562	blood:
2	chr1:152003508..152006016-chr3:64240085..64241940,2	MCF-7	breast:
3	chr1:151958520..151979218-chr1:151992734..152014750,97	MCF-7	breast:
4	chr1:151904319..151906408-chr1:152003368..152007237,3	MCF-7	breast:
5	chr1:152003216..152005599-chr1:152046745..152048519,2	MCF-7	breast:
6	chr1:152004094..152009269-chr1:152022985..152027910,7	K562	blood:
7	chr1:151978047..151980074-chr1:152004028..152006807,2	K562	blood:
8	chr1:152003076..152005594-chr1:152022985..152024993,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000229021	Chromatin interaction
ENSG00000163191	Chromatin interaction
ENSG00000197747	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11804373	0.91[AFR][1000 genomes]
rs6587642	0.84[AFR][1000 genomes]
rs72993621	0.84[AFR][1000 genomes]
rs72993637	0.84[AFR][1000 genomes]
rs72993672	0.84[AFR][1000 genomes]
rs72993673	0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151986800-152007400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:151996600-152004400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr1:151997000-152004400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr1:151997000-152004800	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr1:151997000-152006600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr1:151997000-152007000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr1:152000200-152005000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:152000400-152004600	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr1:152001200-152004600	Weak transcription	Spleen	Spleen
10	chr1:152001600-152005000	Strong transcription	Primary T cells from cord blood	blood
11	chr1:152001600-152006000	Genic enhancers	Primary neutrophils fromperipheralblood	blood
12	chr1:152001800-152004600	Weak transcription	Ovary	ovary
13	chr1:152001800-152005000	Weak transcription	Right Ventricle	heart
14	chr1:152001800-152007200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr1:152002000-152004800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr1:152002000-152007400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr1:152002200-152004600	Weak transcription	Pancreas	Pancrea
18	chr1:152002200-152004600	Weak transcription	K562	blood
19	chr1:152002400-152005200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr1:152002600-152004400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr1:152002600-152004800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr1:152002600-152004800	Weak transcription	Colonic Mucosa	Colon
23	chr1:152002600-152005000	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr1:152002600-152005400	Strong transcription	A549	lung
25	chr1:152002600-152005600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr1:152002600-152005800	Strong transcription	Duodenum Mucosa	Duodenum
27	chr1:152002600-152005800	Strong transcription	Fetal Thymus	thymus
28	chr1:152002600-152006400	Strong transcription	Fetal Muscle Leg	muscle
29	chr1:152002800-152004800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr1:152002800-152005200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr1:152002800-152006200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr1:152002800-152006800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr1:152003000-152004600	Weak transcription	Gastric	stomach
34	chr1:152003000-152005400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr1:152003000-152005400	Strong transcription	Placenta	Placenta
36	chr1:152003000-152006000	Strong transcription	Fetal Intestine Small	intestine
37	chr1:152003000-152006400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr1:152003200-152004600	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr1:152003200-152004800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr1:152003200-152004800	Weak transcription	Colon Smooth Muscle	Colon
41	chr1:152003200-152005200	Genic enhancers	Monocytes-CD14+_RO01746	blood
42	chr1:152003200-152005400	Strong transcription	Muscle Satellite Cultured Cells	--
43	chr1:152003200-152005400	Strong transcription	Left Ventricle	heart
44	chr1:152003200-152005600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr1:152003200-152005600	Strong transcription	Adipose Nuclei	Adipose
46	chr1:152003200-152005600	Strong transcription	Thymus	Thymus
47	chr1:152003200-152006000	Strong transcription	HUVEC	blood vessel
48	chr1:152003200-152006200	Strong transcription	Rectal Mucosa Donor 31	rectum
49	chr1:152003200-152006400	Genic enhancers	Primary monocytes fromperipheralblood	blood
50	chr1:152003200-152006400	Strong transcription	HSMMtube	muscle

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