Variant report

Variant	rs7573095
Chromosome Location	chr2:38809741-38809742
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	chr2:38807538..38810280-chr2:38962388..38964852,2	K562	blood:
2	chr2:38806174..38811270-chr2:38966687..38973672,10	K562	blood:
3	chr2:38805174..38810149-chr2:38974397..38979817,14	K562	blood:
4	chr2:38794380..38796930-chr2:38807297..38810319,3	MCF-7	breast:
5	chr2:38802059..38810352-chr2:38974835..38979723,14	K562	blood:
6	chr2:38807567..38810136-chr2:38951744..38953285,2	MCF-7	breast:
7	chr2:38807837..38810352-chr2:38947655..38950217,2	K562	blood:
8	chr2:38808219..38810400-chr2:38813062..38815014,2	MCF-7	breast:
9	chr2:38806614..38812442-chr2:38966843..38970976,5	K562	blood:
10	chr2:38801102..38805914-chr2:38807147..38811065,7	MCF-7	breast:
11	chr2:38805850..38810073-chr2:38814750..38818900,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000152147	Chromatin interaction
ENSG00000143889	Chromatin interaction
ENSG00000115875	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10495880	0.82[ASN][1000 genomes]
rs12105827	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12987111	0.82[AFR][1000 genomes];0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12990659	0.82[AFR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12995222	0.80[ASN][1000 genomes]
rs12996029	0.83[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs1540436	0.86[ASN][1000 genomes]
rs17421399	0.89[EUR][1000 genomes]
rs17421743	0.80[ASN][1000 genomes]
rs17493321	0.89[EUR][1000 genomes]
rs17493363	0.81[AFR][1000 genomes]
rs17493370	0.82[AFR][1000 genomes]
rs17493538	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17493573	0.83[AFR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17493594	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1864828	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1864829	0.80[ASN][1000 genomes]
rs1864830	0.80[ASN][1000 genomes]
rs3213851	0.95[ASN][1000 genomes]
rs34218951	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34462852	0.82[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs35734673	0.82[ASN][1000 genomes]
rs35933789	0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4268910	0.81[AFR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56217714	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6544170	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6721860	0.85[EUR][1000 genomes]
rs6745023	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6757844	0.81[EUR][1000 genomes]
rs72905865	0.82[ASN][1000 genomes]
rs72907903	0.82[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs7574556	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916059	chr2:38332341-39119398	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS 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	143 gene(s)	inside rSNPs	diseases
2	nsv9646	chr2:38358311-39082189	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	141 gene(s)	inside rSNPs	diseases
3	nsv873881	chr2:38745624-38877636	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv581482	chr2:38799820-38858669	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv581483	chr2:38799820-38862223	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv581484	chr2:38799820-38874177	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:38768200-38812800	Weak transcription	Psoas Muscle	Psoas
2	chr2:38775800-38821800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:38779000-38818200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:38779400-38821800	Weak transcription	Right Ventricle	heart
5	chr2:38779600-38812800	Weak transcription	Aorta	Aorta
6	chr2:38781200-38827600	Weak transcription	Esophagus	oesophagus
7	chr2:38782400-38819000	Strong transcription	Fetal Thymus	thymus
8	chr2:38783800-38827800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:38785000-38827600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr2:38786000-38827600	Weak transcription	Colonic Mucosa	Colon
11	chr2:38786400-38818800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:38786600-38819000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr2:38792600-38810200	Strong transcription	K562	blood
14	chr2:38795200-38814800	Weak transcription	Gastric	stomach
15	chr2:38796400-38812800	Weak transcription	Small Intestine	intestine
16	chr2:38798000-38818000	Weak transcription	Stomach Mucosa	stomach
17	chr2:38798000-38827600	Weak transcription	Spleen	Spleen
18	chr2:38798200-38812800	Weak transcription	Fetal Muscle Leg	muscle
19	chr2:38798200-38812800	Weak transcription	Thymus	Thymus
20	chr2:38798200-38820600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr2:38798200-38821800	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr2:38798200-38827600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr2:38798600-38816400	Weak transcription	Brain Germinal Matrix	brain
24	chr2:38798800-38817000	Weak transcription	Brain Anterior Caudate	brain
25	chr2:38798800-38822000	Weak transcription	NHEK	skin
26	chr2:38799600-38817200	Weak transcription	Brain Substantia Nigra	brain
27	chr2:38799800-38827800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr2:38800000-38814000	Strong transcription	HSMM	muscle
29	chr2:38800000-38817800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr2:38800000-38818600	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr2:38800600-38816600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr2:38802800-38819000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr2:38803600-38813000	Strong transcription	Duodenum Mucosa	Duodenum
34	chr2:38803600-38813200	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr2:38805200-38811800	Weak transcription	Fetal Brain Male	brain
36	chr2:38805200-38826400	Weak transcription	Primary hematopoietic stem cells	blood
37	chr2:38806400-38814200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr2:38806800-38813000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr2:38807200-38810000	Strong transcription	NHLF	lung
40	chr2:38807200-38810600	Strong transcription	Primary neutrophils fromperipheralblood	blood
41	chr2:38807200-38819000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr2:38807800-38813000	Strong transcription	Fetal Lung	lung
43	chr2:38808000-38810000	Strong transcription	Fetal Muscle Trunk	muscle
44	chr2:38808000-38812600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr2:38808200-38810800	Strong transcription	Fetal Intestine Large	intestine
46	chr2:38808200-38824400	Weak transcription	Hela-S3	cervix
47	chr2:38808400-38810000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr2:38808400-38810000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr2:38808400-38810000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr2:38808400-38820400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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