Variant report

Variant	rs2570823
Chromosome Location	chr15:100113321-100113322
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:100111468..100113538-chr15:100118782..100121067,2	K562	blood:
2	chr15:100105984..100108419-chr15:100110771..100114140,4	K562	blood:

Variant related genes	Relation type
ENSG00000068305	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1019974	0.82[EUR][1000 genomes]
rs11852739	0.87[ASN][1000 genomes]
rs12593522	0.81[ASN][1000 genomes]
rs12899961	0.86[ASN][1000 genomes]
rs12902009	0.82[ASN][1000 genomes]
rs12912791	0.80[ASN][1000 genomes]
rs1434232	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2033546	0.82[EUR][1000 genomes]
rs2570807	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2570808	0.82[ASN][1000 genomes]
rs2570816	0.80[ASN][1000 genomes]
rs2570825	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2581467	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2581468	0.94[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2581470	0.80[ASN][1000 genomes]
rs2862869	0.83[EUR][1000 genomes]
rs325390	0.80[EUR][1000 genomes]
rs325392	0.80[EUR][1000 genomes]
rs34756251	0.81[ASN][1000 genomes]
rs34779575	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34981499	0.81[ASN][1000 genomes]
rs4405533	0.88[ASN][1000 genomes]
rs4421955	0.81[ASN][1000 genomes]
rs4424892	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4965529	0.87[ASN][1000 genomes]
rs4965532	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7162392	0.87[ASN][1000 genomes]
rs7165899	0.89[ASN][1000 genomes]
rs7496677	0.82[EUR][1000 genomes]
rs892465	0.90[AMR][1000 genomes];0.89[ASN][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:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:100107200-100114600	Weak transcription	Spleen	Spleen
2	chr15:100107400-100113600	Weak transcription	Small Intestine	intestine
3	chr15:100107400-100114800	Weak transcription	Esophagus	oesophagus
4	chr15:100107400-100120200	Weak transcription	Lung	lung
5	chr15:100107400-100134200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr15:100107400-100134200	Weak transcription	Pancreas	Pancrea
7	chr15:100107800-100114800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr15:100107800-100116400	Weak transcription	Fetal Muscle Trunk	muscle
9	chr15:100107800-100118600	Weak transcription	Ovary	ovary
10	chr15:100107800-100124800	Weak transcription	Fetal Stomach	stomach
11	chr15:100108000-100117600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr15:100108000-100142000	Weak transcription	Thymus	Thymus
13	chr15:100108200-100113800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr15:100108200-100114800	Weak transcription	Fetal Intestine Small	intestine
15	chr15:100108200-100120200	Weak transcription	Fetal Thymus	thymus
16	chr15:100108200-100125200	Weak transcription	Fetal Muscle Leg	muscle
17	chr15:100108400-100124600	Weak transcription	Brain Germinal Matrix	brain
18	chr15:100108800-100115000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr15:100109000-100113600	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr15:100109000-100116200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr15:100109000-100124000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr15:100109000-100140200	Weak transcription	Hela-S3	cervix
23	chr15:100109200-100117600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr15:100109400-100113600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr15:100109400-100113800	Weak transcription	A549	lung
26	chr15:100109400-100114600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr15:100109600-100113600	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr15:100109600-100113600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr15:100109600-100113600	Weak transcription	Duodenum Mucosa	Duodenum
30	chr15:100109600-100113600	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr15:100109600-100113600	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr15:100109600-100113600	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr15:100109600-100113800	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr15:100109600-100114000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr15:100109600-100114000	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr15:100109600-100114600	Weak transcription	Right Ventricle	heart
37	chr15:100109600-100114800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr15:100109600-100114800	Weak transcription	Stomach Mucosa	stomach
39	chr15:100109600-100115000	Weak transcription	Brain Anterior Caudate	brain
40	chr15:100109600-100117600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr15:100109600-100118000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr15:100109600-100118600	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr15:100109600-100118600	Weak transcription	NHDF-Ad	bronchial
44	chr15:100109600-100118800	Weak transcription	Primary T cells from cord blood	blood
45	chr15:100109600-100118800	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr15:100109600-100119200	Weak transcription	NH-A	brain
47	chr15:100109600-100120200	Weak transcription	Right Atrium	heart
48	chr15:100109600-100120400	Weak transcription	HUVEC	blood vessel
49	chr15:100109600-100124000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr15:100109600-100125800	Weak transcription	Monocytes-CD14+_RO01746	blood

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