Variant report

Variant	rs2000111
Chromosome Location	chr6:119099964-119099965
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:119095345..119097623-chr6:119099653..119102563,2	K562	blood:
2	chr6:119098916..119101415-chr6:119102887..119105983,3	K562	blood:
3	chr6:119099349..119102563-chr6:119103399..119106439,3	K562	blood:

Variant related genes	Relation type
ENSG00000225549	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1150121	1.00[EUR][1000 genomes]
rs1334651	1.00[EUR][1000 genomes]
rs1688637	1.00[EUR][1000 genomes]
rs1777652	1.00[EUR][1000 genomes]
rs2638540	1.00[EUR][1000 genomes]
rs284917	1.00[EUR][1000 genomes]
rs2884001	1.00[EUR][1000 genomes]
rs387819	1.00[EUR][1000 genomes]
rs407747	1.00[EUR][1000 genomes]
rs448134	1.00[EUR][1000 genomes]
rs59547233	1.00[EUR][1000 genomes]
rs60554369	1.00[EUR][1000 genomes]
rs6907441	1.00[TSI][hapmap]
rs6914241	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73519448	1.00[EUR][1000 genomes]
rs73519453	1.00[EUR][1000 genomes]
rs73519455	1.00[EUR][1000 genomes]
rs73521373	1.00[EUR][1000 genomes]
rs73521381	1.00[EUR][1000 genomes]
rs73523318	1.00[EUR][1000 genomes]
rs73523320	1.00[EUR][1000 genomes]
rs7751545	1.00[EUR][1000 genomes]
rs9372513	1.00[EUR][1000 genomes]
rs9401100	1.00[TSI][hapmap];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1020463	chr6:118593028-119146363	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv1025403	chr6:118635123-119122551	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv1027444	chr6:118687556-119121660	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv538428	chr6:118687556-119121660	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv949321	chr6:118692304-119137658	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv948980	chr6:118772508-119137658	Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv604559	chr6:118786486-119113317	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
8	nsv1020405	chr6:118786586-119241006	ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
9	nsv830788	chr6:119014021-119143652	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv1023826	chr6:119026481-119221408	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	nsv886568	chr6:119044453-119132164	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv886569	chr6:119055873-119132164	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	esv3333814	chr6:119078525-119100108	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119095200-119105800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr6:119095600-119102000	Weak transcription	Placenta	Placenta
3	chr6:119097600-119100000	Enhancers	Primary T killer memory cells from peripheral blood	blood
4	chr6:119097600-119100200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr6:119098200-119100200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr6:119098200-119104800	Weak transcription	Brain Anterior Caudate	brain
7	chr6:119098400-119100600	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr6:119098400-119104000	Weak transcription	Ovary	ovary
9	chr6:119098400-119104200	Weak transcription	Fetal Heart	heart
10	chr6:119098400-119104200	Weak transcription	Fetal Muscle Leg	muscle
11	chr6:119098600-119104200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr6:119098600-119105000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr6:119098600-119105000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr6:119098600-119105600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr6:119098800-119101400	Weak transcription	Fetal Thymus	thymus
16	chr6:119098800-119102000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr6:119098800-119102200	Weak transcription	NHEK	skin
18	chr6:119098800-119104200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr6:119098800-119108800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr6:119099000-119102000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr6:119099000-119105800	Weak transcription	Pancreas	Pancrea
22	chr6:119099400-119101600	Weak transcription	HMEC	breast
23	chr6:119099800-119100000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr6:119099800-119100200	Weak transcription	Primary monocytes fromperipheralblood	blood

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