Variant report

Variant	rs6876224
Chromosome Location	chr5:118678172-118678173
allele	A/T
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	chr5:118672680..118674679-chr5:118676635..118678463,2	K562	blood:
3	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: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10059175	0.91[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10477585	0.83[AFR][1000 genomes]
rs10519585	0.85[JPT][hapmap]
rs1112247	0.92[LWK][hapmap];0.85[MKK][hapmap];0.91[YRI][hapmap]
rs11957102	0.85[JPT][hapmap]
rs13155880	0.96[YRI][hapmap];0.83[AFR][1000 genomes]
rs1396609	0.84[ASW][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.90[MEX][hapmap];0.96[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17145230	0.83[GIH][hapmap];0.85[JPT][hapmap]
rs17145248	0.85[JPT][hapmap]
rs17145265	0.94[ASW][hapmap];0.82[CHB][hapmap];0.82[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.95[MEX][hapmap];0.88[MKK][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs17145294	0.82[CHD][hapmap];0.86[GIH][hapmap]
rs17385413	0.85[JPT][hapmap]
rs250298	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs250299	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs250308	0.81[AFR][1000 genomes]
rs32653	0.96[YRI][hapmap];0.83[AFR][1000 genomes]
rs32655	0.83[AFR][1000 genomes]
rs32657	0.83[AFR][1000 genomes]
rs32658	0.87[LWK][hapmap];0.96[YRI][hapmap];0.82[AFR][1000 genomes]
rs3797339	0.85[AFR][1000 genomes]
rs3797340	0.86[ASN][1000 genomes]
rs3797341	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3797343	1.00[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.94[MKK][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3813308	0.95[LWK][hapmap];0.80[MKK][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs3920174	0.86[AFR][1000 genomes]
rs408095	0.92[LWK][hapmap];0.85[MKK][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs67328001	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs6863311	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6864305	0.87[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6869512	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6870253	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6877025	1.00[ASW][hapmap];0.82[CHB][hapmap];0.81[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];0.95[MEX][hapmap];0.91[MKK][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6878879	0.85[JPT][hapmap]
rs6882237	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6883657	0.85[JPT][hapmap]
rs6884061	1.00[CHB][hapmap];0.87[CHD][hapmap];0.82[GIH][hapmap];0.85[JPT][hapmap];0.96[ASN][1000 genomes]
rs6891084	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6896277	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6896553	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.90[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6896559	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6897359	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73237292	0.96[ASN][1000 genomes]
rs73237297	0.92[ASN][1000 genomes]
rs73239278	0.85[ASN][1000 genomes]
rs73239280	0.85[ASN][1000 genomes]
rs7707470	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7731632	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs996934	0.83[AFR][1000 genomes]

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:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118660200-118678600	Weak transcription	HepG2	liver
2	chr5:118664400-118678200	Weak transcription	Fetal Kidney	kidney
3	chr5:118670400-118678200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
4	chr5:118670800-118691000	Weak transcription	Aorta	Aorta
5	chr5:118671200-118678400	Weak transcription	Rectal Smooth Muscle	rectum
6	chr5:118671200-118680200	Enhancers	Thymus	Thymus
7	chr5:118671200-118681600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr5:118671200-118695400	Weak transcription	A549	lung
9	chr5:118671800-118680000	Enhancers	Primary hematopoietic stem cells	blood
10	chr5:118673200-118678600	Weak transcription	Fetal Lung	lung
11	chr5:118673200-118679600	Enhancers	Fetal Heart	heart
12	chr5:118673200-118683600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr5:118673200-118683800	Weak transcription	Hela-S3	cervix
14	chr5:118673400-118683000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr5:118673600-118678200	Weak transcription	Adipose Nuclei	Adipose
16	chr5:118673600-118678200	Weak transcription	Colon Smooth Muscle	Colon
17	chr5:118673600-118678800	Enhancers	Fetal Thymus	thymus
18	chr5:118673800-118683400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr5:118674000-118679800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr5:118674200-118678600	Weak transcription	Fetal Intestine Large	intestine
21	chr5:118674200-118681800	Weak transcription	Pancreas	Pancrea
22	chr5:118674200-118689000	Weak transcription	Esophagus	oesophagus
23	chr5:118674400-118678400	Weak transcription	Fetal Intestine Small	intestine
24	chr5:118674400-118678400	Weak transcription	Stomach Smooth Muscle	stomach
25	chr5:118674400-118681000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr5:118674400-118689000	Weak transcription	Gastric	stomach
27	chr5:118675000-118678400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
28	chr5:118675200-118678600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
29	chr5:118675600-118679000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
30	chr5:118675800-118678200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
31	chr5:118675800-118678800	Flanking Active TSS	Primary B cells from cord blood	blood
32	chr5:118675800-118678800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
33	chr5:118675800-118679000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
34	chr5:118676000-118678800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr5:118676000-118682400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr5:118676200-118678400	Weak transcription	HSMMtube	muscle
37	chr5:118676200-118681800	Weak transcription	Spleen	Spleen
38	chr5:118676400-118678200	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr5:118676600-118678200	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr5:118676600-118681800	Weak transcription	Right Atrium	heart
41	chr5:118676800-118678200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
42	chr5:118676800-118679000	Enhancers	K562	blood
43	chr5:118676800-118679400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr5:118676800-118679400	Weak transcription	Placenta	Placenta
45	chr5:118676800-118680000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr5:118676800-118680200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
47	chr5:118676800-118681800	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr5:118676800-118689000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr5:118676800-118691400	Weak transcription	Lung	lung
50	chr5:118677000-118678200	Enhancers	HUES64 Cell Line	embryonic stem cell

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