Variant report

Variant	rs57813422
Chromosome Location	chr15:57263908-57263909
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:57210716..57212486-chr15:57263351..57264921,2	K562	blood:
2	chr15:57263359..57266200-chr15:57266241..57268315,2	K562	blood:
3	chr15:57262336..57264742-chr15:57265375..57267744,2	K562	blood:
4	chr15:57253721..57256073-chr15:57262899..57264820,2	K562	blood:
5	chr15:57208964..57210715-chr15:57261991..57264737,2	K562	blood:

Variant related genes	Relation type
ENSG00000140262	Chromatin interaction
ENSG00000137871	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1430821	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1642932	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1642938	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1652734	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1652735	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1652736	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1657925	0.94[ASN][1000 genomes]
rs2116064	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs213145	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs213146	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs213147	0.91[EUR][1000 genomes]
rs213157	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs213158	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs213159	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs213169	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2566843	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2576928	0.94[ASN][1000 genomes]
rs2585110	0.81[ASN][1000 genomes]
rs2585117	1.00[EUR][1000 genomes]
rs2585118	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4494480	0.81[EUR][1000 genomes]
rs56235870	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56804967	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57344548	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57452003	0.94[ASN][1000 genomes]
rs57849686	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57968080	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59313491	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60268394	0.94[ASN][1000 genomes]
rs604191	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7161894	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7162421	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7170742	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7175983	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73411246	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73413325	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73413333	0.81[EUR][1000 genomes]
rs74018446	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8025829	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8037469	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8040423	0.94[ASN][1000 genomes]
rs8043301	0.94[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	nsv1042486	chr15:57094598-57505992	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv542393	chr15:57115116-57341363	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv904250	chr15:57225766-57294085	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv1052052	chr15:57232111-57344561	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv542394	chr15:57232111-57344561	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv904251	chr15:57241970-57575916	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57256200-57264400	Weak transcription	NH-A	brain
2	chr15:57256200-57265200	Weak transcription	Fetal Brain Male	brain
3	chr15:57256200-57265800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr15:57256400-57264000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr15:57256400-57265200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr15:57256800-57264400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr15:57256800-57277200	Weak transcription	Primary hematopoietic stem cells	blood
8	chr15:57257200-57264600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr15:57257200-57274600	Weak transcription	Adipose Nuclei	Adipose
10	chr15:57257800-57265400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr15:57258200-57264000	Weak transcription	NHDF-Ad	bronchial
12	chr15:57259400-57268200	Enhancers	HepG2	liver
13	chr15:57259800-57264600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr15:57260000-57272200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr15:57260000-57272400	Weak transcription	Rectal Smooth Muscle	rectum
16	chr15:57260600-57267000	Enhancers	Dnd41	blood
17	chr15:57261000-57269400	Weak transcription	Psoas Muscle	Psoas
18	chr15:57261200-57264800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr15:57261200-57272800	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr15:57261200-57279000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr15:57261400-57264600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr15:57261400-57265400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr15:57261400-57272000	Weak transcription	Colon Smooth Muscle	Colon
24	chr15:57261400-57275000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr15:57261600-57264000	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr15:57261800-57264000	Weak transcription	Primary T cells from cord blood	blood
27	chr15:57262000-57264600	Weak transcription	Brain Anterior Caudate	brain
28	chr15:57262000-57269400	Weak transcription	Ovary	ovary
29	chr15:57262000-57269600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr15:57262200-57264000	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr15:57262200-57264800	Weak transcription	Fetal Lung	lung
32	chr15:57262200-57266000	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr15:57262200-57270800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr15:57262200-57280000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr15:57262400-57266000	Weak transcription	Liver	Liver
36	chr15:57263000-57264600	Enhancers	Fetal Intestine Small	intestine
37	chr15:57263000-57264600	Genic enhancers	Fetal Thymus	thymus
38	chr15:57263000-57266200	Enhancers	Small Intestine	intestine
39	chr15:57263200-57266600	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr15:57263400-57264000	Enhancers	Left Ventricle	heart
41	chr15:57263400-57264200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr15:57263400-57265000	Enhancers	Stomach Mucosa	stomach
43	chr15:57263400-57266200	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr15:57263400-57266200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr15:57263400-57266400	Enhancers	K562	blood
46	chr15:57263600-57264000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr15:57263600-57264200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr15:57263600-57264200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr15:57263600-57264200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr15:57263600-57264200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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