Variant report

Variant	rs73026308
Chromosome Location	chr1:153511478-153511479
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	chr1:153510801..153512442-chr1:153538741..153540863,2	MCF-7	breast:
2	chr1:153504209..153505838-chr1:153511280..153513163,2	K562	blood:
3	chr1:153510989..153512909-chr1:153598387..153600995,3	K562	blood:
4	chr1:153510930..153512480-chr1:153598617..153601303,2	MCF-7	breast:
5	chr1:153511330..153514182-chr1:153601360..153604176,2	K562	blood:
6	chr1:153509922..153512486-chr1:153642550..153644597,2	K562	blood:
7	chr1:153510615..153512174-chr1:153513958..153515590,2	K562	blood:
8	chr1:153511083..153513930-chr1:153515986..153517623,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000143621	Chromatin interaction
ENSG00000160678	Chromatin interaction
ENSG00000196754	Chromatin interaction
ENSG00000189171	Chromatin interaction
ENSG00000196420	Chromatin interaction
ENSG00000196154	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs11488667	1.00[EUR][1000 genomes]
rs11973	1.00[EUR][1000 genomes]
rs16835357	1.00[EUR][1000 genomes]
rs16835362	1.00[EUR][1000 genomes]
rs16835371	1.00[EUR][1000 genomes]
rs16835373	1.00[EUR][1000 genomes]
rs16835375	1.00[EUR][1000 genomes]
rs16835379	1.00[EUR][1000 genomes]
rs16835389	1.00[EUR][1000 genomes]
rs16835409	1.00[EUR][1000 genomes]
rs16835413	1.00[EUR][1000 genomes]
rs16835417	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2104500	1.00[EUR][1000 genomes]
rs2230870	1.00[EUR][1000 genomes]
rs28373144	1.00[EUR][1000 genomes]
rs28407716	1.00[EUR][1000 genomes]
rs28442251	1.00[EUR][1000 genomes]
rs28451322	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28456342	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28485860	1.00[EUR][1000 genomes]
rs28510499	1.00[EUR][1000 genomes]
rs28578863	1.00[EUR][1000 genomes]
rs28587171	1.00[EUR][1000 genomes]
rs28605603	1.00[EUR][1000 genomes]
rs28634320	1.00[EUR][1000 genomes]
rs28645589	1.00[EUR][1000 genomes]
rs28648662	1.00[EUR][1000 genomes]
rs28690872	1.00[EUR][1000 genomes]
rs28694652	1.00[EUR][1000 genomes]
rs28709866	1.00[EUR][1000 genomes]
rs28784102	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3014827	1.00[EUR][1000 genomes]
rs3856025	1.00[EUR][1000 genomes]
rs56140059	1.00[EUR][1000 genomes]
rs56255753	1.00[EUR][1000 genomes]
rs56401460	1.00[EUR][1000 genomes]
rs58529054	1.00[EUR][1000 genomes]
rs59209384	1.00[EUR][1000 genomes]
rs59617976	1.00[EUR][1000 genomes]
rs60219287	1.00[EUR][1000 genomes]
rs60460123	1.00[EUR][1000 genomes]
rs61038462	1.00[EUR][1000 genomes]
rs61131911	1.00[EUR][1000 genomes]
rs61148582	1.00[EUR][1000 genomes]
rs73009954	1.00[EUR][1000 genomes]
rs73011738	1.00[EUR][1000 genomes]
rs73020460	1.00[EUR][1000 genomes]
rs73020461	1.00[EUR][1000 genomes]
rs73020464	1.00[EUR][1000 genomes]
rs73020467	1.00[EUR][1000 genomes]
rs73020468	1.00[EUR][1000 genomes]
rs73020471	1.00[EUR][1000 genomes]
rs73020473	1.00[EUR][1000 genomes]
rs73020474	1.00[EUR][1000 genomes]
rs73020478	1.00[EUR][1000 genomes]
rs73020479	1.00[EUR][1000 genomes]
rs73020496	1.00[EUR][1000 genomes]
rs73020497	1.00[EUR][1000 genomes]
rs73024502	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs730347	1.00[EUR][1000 genomes]
rs74115477	1.00[EUR][1000 genomes]
rs74115478	1.00[EUR][1000 genomes]
rs74115489	1.00[EUR][1000 genomes]
rs746425	1.00[EUR][1000 genomes]
rs7518794	1.00[EUR][1000 genomes]
rs7528738	1.00[EUR][1000 genomes]
rs7543851	1.00[EUR][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	nsv1010488	chr1:152901263-153670972	Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
2	nsv535171	chr1:152901263-153670972	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
3	nsv1002705	chr1:153307852-153525589	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
4	nsv831603	chr1:153405842-153576143	Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	148 gene(s)	inside rSNPs	diseases
5	nsv1007306	chr1:153413827-153541798	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	146 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:153508600-153511600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:153508800-153512600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr1:153509200-153512600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr1:153509200-153512600	Weak transcription	Small Intestine	intestine
5	chr1:153509200-153512800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:153509200-153514000	Enhancers	HMEC	breast
7	chr1:153509200-153515400	Weak transcription	Aorta	Aorta
8	chr1:153509200-153515600	Weak transcription	Fetal Kidney	kidney
9	chr1:153509200-153516800	Enhancers	Fetal Thymus	thymus
10	chr1:153509200-153517400	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr1:153509400-153511600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:153509400-153512800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr1:153509400-153513000	Weak transcription	GM12878-XiMat	blood
14	chr1:153509400-153513000	Weak transcription	Osteobl	bone
15	chr1:153509400-153513200	Weak transcription	Gastric	stomach
16	chr1:153509400-153515000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr1:153509400-153515200	Enhancers	NHEK	skin
18	chr1:153509400-153516800	Weak transcription	Right Atrium	heart
19	chr1:153509400-153517000	Weak transcription	HUVEC	blood vessel
20	chr1:153509400-153527600	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr1:153509600-153512000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr1:153509600-153512000	Weak transcription	Primary T cells from cord blood	blood
23	chr1:153509600-153512000	Weak transcription	HSMM	muscle
24	chr1:153509600-153512200	Weak transcription	Primary B cells from peripheral blood	blood
25	chr1:153509600-153512200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr1:153509600-153512400	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr1:153509600-153512600	Weak transcription	HSMMtube	muscle
28	chr1:153509600-153515400	Weak transcription	Colon Smooth Muscle	Colon
29	chr1:153509600-153515400	Weak transcription	Left Ventricle	heart
30	chr1:153509600-153515400	Weak transcription	Rectal Smooth Muscle	rectum
31	chr1:153509600-153515600	Weak transcription	Fetal Stomach	stomach
32	chr1:153509600-153517000	Weak transcription	Brain Hippocampus Middle	brain
33	chr1:153509800-153512000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr1:153509800-153512200	Weak transcription	Primary B cells from cord blood	blood
35	chr1:153509800-153512200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr1:153509800-153512200	Weak transcription	Thymus	Thymus
37	chr1:153509800-153512200	Enhancers	Monocytes-CD14+_RO01746	blood
38	chr1:153509800-153512400	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr1:153509800-153512400	Weak transcription	Spleen	Spleen
40	chr1:153509800-153512600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr1:153509800-153512600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr1:153509800-153512800	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr1:153509800-153513000	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr1:153509800-153514800	Weak transcription	Lung	lung
45	chr1:153509800-153515800	Weak transcription	Fetal Heart	heart
46	chr1:153509800-153515800	Weak transcription	Right Ventricle	heart
47	chr1:153510000-153512000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr1:153510000-153512000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr1:153510000-153512400	Weak transcription	Primary hematopoietic stem cells	blood
50	chr1:153510000-153512400	Weak transcription	Sigmoid Colon	Sigmoid Colon

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