Variant report

Variant	rs73000995
Chromosome Location	chr2:153028474-153028475
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:153026916..153030201-chr2:153030612..153032504,5	MCF-7	breast:
2	chr2:153028161..153030497-chr2:153166137..153168907,2	K562	blood:
3	chr2:152989033..152991162-chr2:153026877..153029419,3	MCF-7	breast:
4	chr2:153023722..153029811-chr2:153030516..153033804,9	MCF-7	breast:
5	chr2:153000494..153002205-chr2:153026985..153029133,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115145	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10497099	1.00[AMR][1000 genomes]
rs11883824	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11885252	1.00[AMR][1000 genomes]
rs11885467	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16830747	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16830800	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57797628	1.00[AMR][1000 genomes]
rs73000963	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73000974	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73002813	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73002816	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73002835	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73002848	1.00[AMR][1000 genomes]
rs7605123	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005746	chr2:152361972-153059840	Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv535984	chr2:152361972-153059840	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv875287	chr2:152714680-153110573	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS 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	20 gene(s)	inside rSNPs	diseases
4	nsv875288	chr2:152716628-153183646	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv875289	chr2:152720030-153183646	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	esv1847028	chr2:152863856-153045036	Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
7	nsv1004308	chr2:152980087-153154534	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	nsv535985	chr2:152980087-153154534	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
9	nsv459740	chr2:152986041-153045036	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
10	nsv583316	chr2:152986041-153045036	Bivalent/Poised TSS ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
11	esv3693434	chr2:152998467-153208713	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153000200-153031000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr2:153002800-153030400	Weak transcription	Thymus	Thymus
3	chr2:153008800-153028800	Weak transcription	Esophagus	oesophagus
4	chr2:153015400-153030200	Weak transcription	Primary T cells from cord blood	blood
5	chr2:153017000-153030200	Weak transcription	Fetal Stomach	stomach
6	chr2:153021200-153030600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr2:153022200-153031400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:153022600-153028600	Weak transcription	Right Atrium	heart
9	chr2:153022600-153028800	Weak transcription	Spleen	Spleen
10	chr2:153022800-153031200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr2:153022800-153031200	Weak transcription	Gastric	stomach
12	chr2:153022800-153031200	Weak transcription	Left Ventricle	heart
13	chr2:153023400-153030400	Weak transcription	Fetal Muscle Leg	muscle
14	chr2:153023400-153030800	Weak transcription	Primary B cells from cord blood	blood
15	chr2:153023600-153030400	Weak transcription	HSMMtube	muscle
16	chr2:153024000-153028800	Weak transcription	Stomach Smooth Muscle	stomach
17	chr2:153024000-153030400	Weak transcription	Fetal Thymus	thymus
18	chr2:153024000-153030400	Weak transcription	NH-A	brain
19	chr2:153024000-153030400	Weak transcription	NHDF-Ad	bronchial
20	chr2:153024000-153030600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr2:153024000-153030600	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr2:153024000-153030800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr2:153024000-153030800	Weak transcription	Fetal Heart	heart
24	chr2:153024000-153030800	Weak transcription	K562	blood
25	chr2:153024200-153028600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr2:153024200-153030400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr2:153024200-153030400	Weak transcription	HUVEC	blood vessel
28	chr2:153024200-153031000	Weak transcription	HSMM	muscle
29	chr2:153024400-153030400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr2:153027600-153031200	Weak transcription	Lung	lung
31	chr2:153027800-153029000	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr2:153028000-153029000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr2:153028000-153029000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr2:153028000-153029000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr2:153028000-153029000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr2:153028000-153029000	Enhancers	Osteobl	bone
37	chr2:153028000-153029800	Enhancers	Adipose Nuclei	Adipose
38	chr2:153028000-153030400	Enhancers	Liver	Liver
39	chr2:153028000-153030800	Enhancers	Fetal Intestine Small	intestine
40	chr2:153028200-153028600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr2:153028200-153028600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr2:153028200-153028600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr2:153028200-153028600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr2:153028200-153028600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr2:153028200-153028600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr2:153028200-153028600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr2:153028200-153028600	Enhancers	Brain Angular Gyrus	brain
48	chr2:153028200-153028600	Flanking Active TSS	Fetal Kidney	kidney
49	chr2:153028200-153028600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
50	chr2:153028200-153028600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum

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