Variant report

Variant	rs250302
Chromosome Location	chr5:118677340-118677341
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:118675434..118678874-chr5:118679948..118684456,6	K562	blood:
2	chr5:118654543..118656491-chr5:118674624..118677344,2	K562	blood:
3	chr5:118672680..118674679-chr5:118676635..118678463,2	K562	blood:
4	chr5:118666908..118671699-chr5:118672968..118679055,7	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DMXL1-8	chr5:118677271-118680524	NONHSAT103433

Variant related genes	Relation type
ENSG00000145779	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10478422	0.80[JPT][hapmap]
rs1155268	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1509141	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1509142	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1509144	0.80[JPT][hapmap]
rs1848554	0.90[JPT][hapmap]
rs192225	1.00[CHB][hapmap];0.86[JPT][hapmap];0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs250298	0.82[CHB][hapmap]
rs250299	0.84[CHB][hapmap]
rs250303	1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs250304	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs32652	0.95[CHB][hapmap];0.89[JPT][hapmap]
rs32654	1.00[CHB][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs3813309	1.00[CHB][hapmap];0.90[JPT][hapmap];0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4895369	1.00[CHB][hapmap];0.85[JPT][hapmap];0.87[ASN][1000 genomes]
rs6595186	0.86[ASN][1000 genomes]
rs6874848	1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7721752	0.80[JPT][hapmap]
rs924623	0.90[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024648	chr5:118608175-118678268	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv869828	chr5:118610548-118691190	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv599565	chr5:118661882-118691888	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv882775	chr5:118669094-118691888	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118659600-118677800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr5:118660200-118678600	Weak transcription	HepG2	liver
3	chr5:118664400-118678200	Weak transcription	Fetal Kidney	kidney
4	chr5:118669400-118677600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr5:118670400-118678200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
6	chr5:118670800-118691000	Weak transcription	Aorta	Aorta
7	chr5:118671200-118678400	Weak transcription	Rectal Smooth Muscle	rectum
8	chr5:118671200-118680200	Enhancers	Thymus	Thymus
9	chr5:118671200-118681600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr5:118671200-118695400	Weak transcription	A549	lung
11	chr5:118671800-118680000	Enhancers	Primary hematopoietic stem cells	blood
12	chr5:118673000-118677400	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr5:118673200-118678600	Weak transcription	Fetal Lung	lung
14	chr5:118673200-118679600	Enhancers	Fetal Heart	heart
15	chr5:118673200-118683600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr5:118673200-118683800	Weak transcription	Hela-S3	cervix
17	chr5:118673400-118683000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr5:118673600-118677600	Weak transcription	HSMM	muscle
19	chr5:118673600-118678200	Weak transcription	Adipose Nuclei	Adipose
20	chr5:118673600-118678200	Weak transcription	Colon Smooth Muscle	Colon
21	chr5:118673600-118678800	Enhancers	Fetal Thymus	thymus
22	chr5:118673800-118677600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr5:118673800-118683400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr5:118674000-118679800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr5:118674200-118677800	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr5:118674200-118678600	Weak transcription	Fetal Intestine Large	intestine
27	chr5:118674200-118681800	Weak transcription	Pancreas	Pancrea
28	chr5:118674200-118689000	Weak transcription	Esophagus	oesophagus
29	chr5:118674400-118677400	Weak transcription	Fetal Stomach	stomach
30	chr5:118674400-118678400	Weak transcription	Fetal Intestine Small	intestine
31	chr5:118674400-118678400	Weak transcription	Stomach Smooth Muscle	stomach
32	chr5:118674400-118681000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr5:118674400-118689000	Weak transcription	Gastric	stomach
34	chr5:118675000-118678400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
35	chr5:118675200-118677400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
36	chr5:118675200-118677600	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr5:118675200-118677800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
38	chr5:118675200-118678600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
39	chr5:118675600-118679000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
40	chr5:118675800-118677800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
41	chr5:118675800-118678200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
42	chr5:118675800-118678800	Flanking Active TSS	Primary B cells from cord blood	blood
43	chr5:118675800-118678800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
44	chr5:118675800-118679000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
45	chr5:118676000-118677400	Flanking Active TSS	Primary B cells from peripheral blood	blood
46	chr5:118676000-118678800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr5:118676000-118682400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr5:118676200-118678400	Weak transcription	HSMMtube	muscle
49	chr5:118676200-118681800	Weak transcription	Spleen	Spleen
50	chr5:118676400-118677600	Weak transcription	H1 Cell Line	embryonic stem cell

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