Variant report

Variant	rs240422
Chromosome Location	chr6:75953220-75953221
allele	A/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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:75952010..75957701-chr6:75957886..75965537,16	MCF-7	breast:
2	chr6:75952974..75954563-chr6:75959436..75961084,2	MCF-7	breast:
3	chr15:72766264..72766975-chr6:75952786..75953522,2	Hela-S3	cervix:
4	chr6:74363322..74365404-chr6:75950708..75953547,2	MCF-7	breast:
5	chr10:98346089..98346610-chr6:75953092..75953659,2	NB4	blood:
6	chr17:45972667..45973545-chr6:75952957..75953928,2	HCT-116	colon:
7	chr6:75953153..75955682-chr6:76309116..76311798,2	K562	blood:
8	chr6:75953197..75955267-chr6:75981448..75984407,2	K562	blood:
9	chr6:75949911..75955499-chr6:75993041..75995715,6	MCF-7	breast:
10	chr6:75951366..75953542-chr6:75992434..75995845,4	K562	blood:
11	chr6:75952178..75953795-chr6:76311805..76314377,2	K562	blood:
12	chr6:75951699..75955124-chr6:75992599..75996025,9	K562	blood:
13	chr6:75951485..75954328-chr6:75992401..75995008,3	MCF-7	breast:
14	chr15:42782883..42783630-chr6:75953101..75953870,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
ENSG00000092531	Chromatin interaction
ENSG00000225793	Chromatin interaction
ENSG00000119899	Chromatin interaction
ENSG00000077147	Chromatin interaction
ENSG00000166233	Chromatin interaction
ENSG00000103994	Chromatin interaction
ENSG00000167182	Chromatin interaction
ENSG00000261423	Chromatin interaction
ENSG00000264920	Chromatin interaction
ENSG00000112701	Chromatin interaction
ENSG00000112695	Chromatin interaction
ENSG00000112697	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1203210	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs1203215	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12176508	0.86[EUR][1000 genomes]
rs12198145	0.90[CEU][hapmap]
rs12215389	0.90[CEU][hapmap]
rs1407733	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs1407734	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs1474847	0.90[CEU][hapmap];0.88[EUR][1000 genomes]
rs171261	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs171264	0.90[CEU][hapmap]
rs173274	0.90[CEU][hapmap];0.83[EUR][1000 genomes]
rs187067	0.90[CEU][hapmap];0.83[EUR][1000 genomes]
rs1967709	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs1998454	0.89[CEU][hapmap];0.90[EUR][1000 genomes]
rs240363	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs240365	0.94[EUR][1000 genomes]
rs240366	0.90[CEU][hapmap];0.94[EUR][1000 genomes]
rs240370	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs240394	0.90[CEU][hapmap];0.83[EUR][1000 genomes]
rs240395	0.90[CEU][hapmap];0.83[EUR][1000 genomes]
rs240399	0.90[CEU][hapmap];0.83[EUR][1000 genomes]
rs240408	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs240411	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs240414	0.90[CEU][hapmap]
rs240417	0.90[CEU][hapmap]
rs240418	0.90[CEU][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs240420	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs240421	0.86[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs240433	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs3756791	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs3777507	0.90[CEU][hapmap]
rs3777510	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs409536	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs415416	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs431116	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs436898	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs511970	0.90[CEU][hapmap]
rs588691	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs601846	0.94[EUR][1000 genomes]
rs656182	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs743003	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs743004	0.90[CEU][hapmap];0.90[EUR][1000 genomes]
rs743005	0.94[EUR][1000 genomes]
rs7768671	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs910523	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs9293997	0.90[CEU][hapmap];0.88[EUR][1000 genomes]
rs9443160	1.00[CEU][hapmap];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016804	chr6:75775846-76188585	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv538310	chr6:75775846-76188585	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv463155	chr6:75789526-75980419	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv603762	chr6:75789526-75980419	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv1024079	chr6:75848556-76238519	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	nsv1027915	chr6:75893542-76510113	Active TSS Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
7	nsv538311	chr6:75893542-76510113	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
8	nsv603763	chr6:75923605-76009426	Genic enhancers Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:75951200-75954000	Active TSS	GM12878-XiMat	blood
2	chr6:75951600-75953800	Active TSS	Hela-S3	cervix
3	chr6:75951800-75954200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr6:75952000-75953600	Active TSS	K562	blood
5	chr6:75952000-75954000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr6:75952000-75954400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr6:75952000-75954400	Active TSS	A549	lung
8	chr6:75952000-75954400	Active TSS	NHLF	lung
9	chr6:75952200-75953400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr6:75952200-75953800	Active TSS	Primary hematopoietic stem cells short term culture	blood
11	chr6:75952200-75954000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr6:75952200-75954000	Active TSS	Muscle Satellite Cultured Cells	--
13	chr6:75952200-75954000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr6:75952200-75954000	Active TSS	Duodenum Mucosa	Duodenum
15	chr6:75952200-75954000	Active TSS	Rectal Mucosa Donor 29	rectum
16	chr6:75952200-75954000	Active TSS	NH-A	brain
17	chr6:75952200-75954200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr6:75952200-75954200	Active TSS	Fetal Brain Female	brain
19	chr6:75952200-75954400	Active TSS	H1 Cell Line	embryonic stem cell
20	chr6:75952200-75954400	Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr6:75952200-75954400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr6:75952200-75954400	Active TSS	Right Atrium	heart
23	chr6:75952200-75954400	Active TSS	Right Ventricle	heart
24	chr6:75952400-75953800	Active TSS	Primary T cells from cord blood	blood
25	chr6:75952400-75953800	Active TSS	HUVEC	blood vessel
26	chr6:75952400-75954000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr6:75952400-75954000	Active TSS	HUES48 Cell Line	embryonic stem cell
28	chr6:75952400-75954000	Active TSS	Fetal Kidney	kidney
29	chr6:75952400-75954000	Active TSS	Fetal Stomach	stomach
30	chr6:75952400-75954000	Active TSS	Left Ventricle	heart
31	chr6:75952400-75954000	Active TSS	Skeletal Muscle Male	skeletal muscle
32	chr6:75952400-75954000	Active TSS	HMEC	breast
33	chr6:75952400-75954200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr6:75952400-75954200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr6:75952400-75954200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr6:75952400-75954200	Active TSS	Rectal Smooth Muscle	rectum
37	chr6:75952400-75954400	Active TSS	H9 Cell Line	embryonic stem cell
38	chr6:75952400-75954400	Active TSS	HUES64 Cell Line	embryonic stem cell
39	chr6:75952400-75954400	Active TSS	iPS-20b Cell Line	embryonic stem cell
40	chr6:75952400-75954400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr6:75952400-75954400	Active TSS	Brain Germinal Matrix	brain
42	chr6:75952600-75953800	Active TSS	Primary T cells fromperipheralblood	blood
43	chr6:75952600-75953800	Active TSS	Primary hematopoietic stem cells	blood
44	chr6:75952600-75953800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr6:75952600-75953800	Active TSS	Liver	Liver
46	chr6:75952600-75953800	Active TSS	Fetal Thymus	thymus
47	chr6:75952600-75953800	Active TSS	NHEK	skin
48	chr6:75952600-75954000	Active TSS	Breast Myoepithelial Primary Cells	Breast
49	chr6:75952600-75954000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
50	chr6:75952600-75954000	Active TSS	Primary T helper cells PMA-I stimulated	--

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