Variant report

Variant	rs2472789
Chromosome Location	chr6:14735907-14735908
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:14734617..14737417-chr6:14746915..14749390,2	MCF-7	breast:
2	chr6:14733299..14736289-chr6:14748028..14750622,2	K562	blood:
3	chr6:14733899..14736788-chr6:14776742..14779427,2	K562	blood:
4	chr6:14733830..14736218-chr6:15031394..15034242,2	MCF-7	breast:
5	chr6:14706613..14709489-chr6:14734237..14736433,2	K562	blood:
6	chr6:14719823..14724151-chr6:14733005..14736892,4	K562	blood:
7	chr6:14734009..14737295-chr6:14739247..14741023,4	K562	blood:
8	chr6:14733688..14736163-chr6:14741520..14743474,2	K562	blood:
9	chr6:14730493..14736289-chr6:15088806..15091348,6	MCF-7	breast:
10	chr6:14730406..14736107-chr6:15243973..15251767,9	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000271888	Chromatin interaction
ENSG00000234261	Chromatin interaction
ENSG00000008083	Chromatin interaction
ENSG00000235488	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1010703	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1010704	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1010705	0.86[ASN][1000 genomes]
rs2038015	0.86[ASN][1000 genomes]
rs2038016	0.86[ASN][1000 genomes]
rs2038017	1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2472790	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2472791	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2472792	0.86[ASN][1000 genomes]
rs2472794	0.80[ASN][1000 genomes]
rs2472797	1.00[JPT][hapmap]
rs2472798	1.00[JPT][hapmap]
rs2500065	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2500066	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2500067	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2500068	0.86[ASN][1000 genomes]
rs2500070	0.86[ASN][1000 genomes]
rs2500071	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2500074	0.86[ASN][1000 genomes]
rs2500075	0.86[ASN][1000 genomes]
rs2500076	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2500077	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs4145445	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs4145447	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs4145448	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs4712240	0.86[ASN][1000 genomes]
rs4715922	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs6459373	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs6459374	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs6459375	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs6903582	0.86[ASN][1000 genomes]
rs6919669	1.00[JPT][hapmap]
rs6935110	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7744561	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7766310	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs926242	1.00[JPT][hapmap]
rs9367851	0.86[ASN][1000 genomes]
rs9370778	0.86[ASN][1000 genomes]
rs9382996	0.86[ASN][1000 genomes]
rs9382999	0.86[ASN][1000 genomes]
rs9383000	0.86[ASN][1000 genomes]
rs9396529	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9396530	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs9396531	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs9464714	0.86[ASN][1000 genomes]
rs9476648	1.00[JPT][hapmap];0.88[YRI][hapmap];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv462641	chr6:14203872-14764983	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv600997	chr6:14203872-14764983	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv1023685	chr6:14514647-14838390	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:14728200-14736600	Enhancers	Primary T cells from cord blood	blood
2	chr6:14728200-14740000	Enhancers	Fetal Thymus	thymus
3	chr6:14729400-14743400	Weak transcription	Adipose Nuclei	Adipose
4	chr6:14730000-14736000	Enhancers	NHDF-Ad	bronchial
5	chr6:14730000-14740400	Enhancers	Primary B cells from peripheral blood	blood
6	chr6:14730200-14758600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr6:14730600-14740200	Enhancers	Primary hematopoietic stem cells	blood
8	chr6:14730800-14736400	Enhancers	Primary T cells fromperipheralblood	blood
9	chr6:14731200-14736000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr6:14731200-14740200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr6:14731400-14736000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr6:14731400-14736400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr6:14731400-14736400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr6:14731400-14736400	Enhancers	HMEC	breast
15	chr6:14731400-14736600	Enhancers	Thymus	Thymus
16	chr6:14731600-14736000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr6:14731600-14736600	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr6:14732000-14736400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr6:14732000-14737800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr6:14732600-14736000	Enhancers	HSMM	muscle
21	chr6:14732800-14736600	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr6:14733000-14740400	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr6:14733200-14736200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr6:14733200-14743400	Weak transcription	Esophagus	oesophagus
25	chr6:14733400-14736400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr6:14733600-14736000	Enhancers	Osteobl	bone
27	chr6:14733600-14736200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr6:14733800-14736000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr6:14733800-14736000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr6:14733800-14736000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr6:14733800-14736200	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr6:14734000-14736400	Enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr6:14734000-14737200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr6:14734000-14750600	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr6:14734200-14737800	Enhancers	Primary neutrophils fromperipheralblood	blood
36	chr6:14734600-14736800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr6:14734600-14737200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr6:14734800-14736200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr6:14735000-14736800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr6:14735000-14737400	Enhancers	Primary B cells from cord blood	blood
41	chr6:14735000-14742000	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr6:14735200-14736600	Enhancers	Spleen	Spleen
43	chr6:14735400-14740000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr6:14735600-14736400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
45	chr6:14735600-14736600	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr6:14735600-14740600	Weak transcription	NHEK	skin
47	chr6:14735800-14736000	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr6:14735800-14736000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
49	chr6:14735800-14736200	Enhancers	K562	blood
50	chr6:14735800-14737400	Enhancers	GM12878-XiMat	blood

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