Variant report

Variant	rs73007992
Chromosome Location	chr1:151918696-151918697
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:151911549..151914753-chr1:151917047..151920046,3	K562	blood:
2	chr1:151918412..151920135-chr1:151920921..151922803,2	K562	blood:
3	chr1:151918122..151918743-chr3:39041388..39042072,2	MCF-7	breast:
4	chr1:151881300..151883232-chr1:151916135..151919010,3	K562	blood:
5	chr1:151914726..151916924-chr1:151917247..151919609,3	MCF-7	breast:
6	chr1:151915835..151920651-chr1:152004121..152010886,7	MCF-7	breast:
7	chr1:151917183..151919501-chr1:152008114..152010423,2	K562	blood:
8	chr1:151918309..151920987-chr1:151938809..151942058,3	MCF-7	breast:
9	chr1:151912762..151919992-chr1:151963219..151969467,12	MCF-7	breast:
10	chr1:151918176..151919110-chr6:30584030..30584916,2	Hela-S3	cervix:
11	chr1:151917185..151918906-chr1:151960945..151963030,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000159445	Chromatin interaction
ENSG00000197747	Chromatin interaction
ENSG00000222894	Chromatin interaction
ENSG00000229021	Chromatin interaction
ENSG00000163191	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs6587642	0.85[AFR][1000 genomes]
rs6678366	0.84[AFR][1000 genomes]
rs6679547	1.00[AFR][1000 genomes]
rs6690651	1.00[AFR][1000 genomes]
rs72993621	0.85[AFR][1000 genomes]
rs72993637	0.85[AFR][1000 genomes]
rs73005923	0.85[AFR][1000 genomes]
rs73005925	0.85[AFR][1000 genomes]
rs73005928	0.85[AFR][1000 genomes]
rs73005930	0.85[AFR][1000 genomes]
rs73005932	0.85[AFR][1000 genomes]
rs73005933	0.85[AFR][1000 genomes]
rs73007999	1.00[AFR][1000 genomes]
rs73009645	1.00[AFR][1000 genomes]
rs73009654	1.00[AFR][1000 genomes]
rs73009658	1.00[AFR][1000 genomes]
rs73009663	0.85[AFR][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	nsv547852	chr1:151843044-151955230	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
5	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:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151913000-151919800	Enhancers	Fetal Intestine Large	intestine
2	chr1:151913200-151919000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr1:151914000-151922000	Weak transcription	Spleen	Spleen
4	chr1:151915200-151919600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr1:151915600-151919400	Enhancers	Primary B cells from peripheral blood	blood
6	chr1:151916200-151919600	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr1:151916400-151919200	Enhancers	K562	blood
8	chr1:151916400-151919400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr1:151916400-151919600	Enhancers	Primary T cells fromperipheralblood	blood
10	chr1:151916400-151919800	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr1:151916600-151919000	Enhancers	Placenta	Placenta
12	chr1:151916600-151919000	Enhancers	Small Intestine	intestine
13	chr1:151916600-151919200	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr1:151916600-151919400	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr1:151916600-151919400	Enhancers	Colon Smooth Muscle	Colon
16	chr1:151916600-151919600	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr1:151916600-151919600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr1:151916600-151919600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr1:151916600-151919600	Enhancers	Fetal Muscle Leg	muscle
20	chr1:151916600-151919600	Enhancers	Placenta Amnion	Placenta Amnion
21	chr1:151916600-151919600	Enhancers	Stomach Mucosa	stomach
22	chr1:151916600-151919800	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr1:151916600-151919800	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr1:151916600-151919800	Enhancers	Muscle Satellite Cultured Cells	--
25	chr1:151916600-151919800	Enhancers	Fetal Intestine Small	intestine
26	chr1:151916800-151918800	Enhancers	NHDF-Ad	bronchial
27	chr1:151916800-151919000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr1:151916800-151919400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr1:151916800-151919600	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr1:151916800-151919600	Enhancers	Sigmoid Colon	Sigmoid Colon
31	chr1:151916800-151919800	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr1:151916800-151919800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr1:151916800-151919800	Enhancers	HSMM	muscle
34	chr1:151916800-151919800	Enhancers	NHLF	lung
35	chr1:151916800-151920600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr1:151917000-151919000	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr1:151917000-151919000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr1:151917000-151919000	Flanking Active TSS	A549	lung
39	chr1:151917000-151919200	Enhancers	Primary T killer memory cells from peripheral blood	blood
40	chr1:151917000-151919400	Enhancers	Pancreatic Islets	Pancreatic Islet
41	chr1:151917000-151919600	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr1:151917000-151919600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr1:151917000-151919600	Enhancers	Rectal Mucosa Donor 29	rectum
44	chr1:151917000-151920200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr1:151917200-151918800	Enhancers	Primary B cells from cord blood	blood
46	chr1:151917200-151919600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr1:151917200-151919800	Enhancers	HSMMtube	muscle
48	chr1:151917400-151919000	Enhancers	H1 Cell Line	embryonic stem cell
49	chr1:151917400-151919000	Enhancers	Primary hematopoietic stem cells	blood
50	chr1:151917400-151919000	Enhancers	Right Atrium	heart

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