Variant report

Variant	rs2570820
Chromosome Location	chr15:100118575-100118576
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:100117617..100121955-chr15:100124250..100127287,4	K562	blood:
2	chr15:100104593..100107868-chr15:100116862..100120371,3	MCF-7	breast:
3	chr15:100104524..100107362-chr15:100116776..100120045,3	K562	blood:
4	chr15:100115012..100117156-chr15:100118010..100120795,3	K562	blood:
5	chr15:100104501..100107809-chr15:100115023..100120285,5	K562	blood:

Variant related genes	Relation type
ENSG00000068305	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1036320	1.00[MKK][hapmap];1.00[TSI][hapmap];0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1108205	1.00[EUR][1000 genomes]
rs11247122	1.00[EUR][1000 genomes]
rs2570800	1.00[EUR][1000 genomes]
rs2570802	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2570803	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs2570809	1.00[ASW][hapmap];0.86[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2570814	0.92[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2570824	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs2570924	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2570925	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2570926	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2570931	1.00[EUR][1000 genomes]
rs2570932	1.00[EUR][1000 genomes]
rs2570933	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs2570935	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2570938	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2581463	1.00[EUR][1000 genomes]
rs2581473	1.00[ASW][hapmap];0.86[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28661496	1.00[EUR][1000 genomes]
rs28747079	1.00[EUR][1000 genomes]
rs28816423	1.00[EUR][1000 genomes]
rs325385	1.00[EUR][1000 genomes]
rs325388	1.00[ASW][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];1.00[EUR][1000 genomes]
rs325399	1.00[EUR][1000 genomes]
rs325401	1.00[EUR][1000 genomes]
rs325407	1.00[EUR][1000 genomes]
rs7163764	1.00[ASW][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7170276	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7182926	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs8027544	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8029296	0.81[YRI][hapmap]
rs8034889	0.81[YRI][hapmap]
rs8040915	1.00[ASW][hapmap];0.86[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915926	chr15:99519820-100138705	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv817289	chr15:99621061-100138705	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv431411	chr15:99621061-100143999	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv904546	chr15:99696046-100166300	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS 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	41 gene(s)	inside rSNPs	diseases
5	nsv1036346	chr15:99752391-100365458	Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	nsv542520	chr15:99752391-100365458	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
7	nsv1051560	chr15:99837102-100124483	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer 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	19 gene(s)	inside rSNPs	diseases
8	nsv817201	chr15:99839238-100537341	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
9	nsv904558	chr15:100019382-100171684	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:100107400-100120200	Weak transcription	Lung	lung
2	chr15:100107400-100134200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr15:100107400-100134200	Weak transcription	Pancreas	Pancrea
4	chr15:100107800-100118600	Weak transcription	Ovary	ovary
5	chr15:100107800-100124800	Weak transcription	Fetal Stomach	stomach
6	chr15:100108000-100142000	Weak transcription	Thymus	Thymus
7	chr15:100108200-100120200	Weak transcription	Fetal Thymus	thymus
8	chr15:100108200-100125200	Weak transcription	Fetal Muscle Leg	muscle
9	chr15:100108400-100124600	Weak transcription	Brain Germinal Matrix	brain
10	chr15:100109000-100124000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr15:100109000-100140200	Weak transcription	Hela-S3	cervix
12	chr15:100109600-100118600	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr15:100109600-100118600	Weak transcription	NHDF-Ad	bronchial
14	chr15:100109600-100118800	Weak transcription	Primary T cells from cord blood	blood
15	chr15:100109600-100118800	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr15:100109600-100119200	Weak transcription	NH-A	brain
17	chr15:100109600-100120200	Weak transcription	Right Atrium	heart
18	chr15:100109600-100120400	Weak transcription	HUVEC	blood vessel
19	chr15:100109600-100124000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr15:100109600-100125800	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr15:100109600-100126200	Weak transcription	Primary hematopoietic stem cells	blood
22	chr15:100109600-100132200	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr15:100109800-100118600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr15:100109800-100118600	Weak transcription	Dnd41	blood
25	chr15:100109800-100118800	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr15:100109800-100122000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr15:100112800-100118600	Weak transcription	Psoas Muscle	Psoas
28	chr15:100112800-100118800	Weak transcription	Stomach Smooth Muscle	stomach
29	chr15:100113000-100119000	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr15:100113800-100120400	Weak transcription	Gastric	stomach
31	chr15:100113800-100120400	Weak transcription	Small Intestine	intestine
32	chr15:100114200-100124000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr15:100114400-100119200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr15:100114400-100124400	Weak transcription	A549	lung
35	chr15:100114600-100120200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr15:100114800-100118600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr15:100114800-100119200	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr15:100115000-100118600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr15:100115000-100118600	Weak transcription	Left Ventricle	heart
40	chr15:100115000-100118600	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr15:100115000-100118600	Weak transcription	Spleen	Spleen
42	chr15:100115000-100118600	Weak transcription	NHEK	skin
43	chr15:100115000-100120000	Weak transcription	Right Ventricle	heart
44	chr15:100115000-100122800	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr15:100115000-100138800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr15:100115200-100118600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr15:100115200-100120000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr15:100115400-100120200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr15:100115800-100119000	Weak transcription	Brain Anterior Caudate	brain
50	chr15:100115800-100120000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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