Variant report

Variant	rs2005303
Chromosome Location	chr6:119109673-119109674
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:119109578..119112343-chr6:119334552..119337073,2	K562	blood:
2	chr6:119104519..119106736-chr6:119106969..119109771,2	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10485389	0.83[ASN][1000 genomes]
rs11963765	0.91[ASN][1000 genomes]
rs12203353	0.82[ASN][1000 genomes]
rs12203542	0.82[ASN][1000 genomes]
rs12210027	0.82[ASN][1000 genomes]
rs12214434	0.82[ASN][1000 genomes]
rs12216519	0.82[ASN][1000 genomes]
rs17080604	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs17080617	0.91[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs17080626	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2185560	0.86[ASN][1000 genomes]
rs376225	0.82[ASN][1000 genomes]
rs56895036	0.84[ASN][1000 genomes]
rs6909006	0.82[ASN][1000 genomes]
rs6910327	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6910850	0.88[ASN][1000 genomes]
rs706971	0.80[ASN][1000 genomes]
rs72966811	0.88[ASN][1000 genomes]
rs7740511	0.82[ASN][1000 genomes]
rs7741194	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7742473	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7742814	0.82[ASN][1000 genomes]
rs7750777	0.81[ASN][1000 genomes]
rs7758986	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7765824	0.82[ASN][1000 genomes]
rs9374753	0.84[ASN][1000 genomes]
rs9481862	0.84[ASN][1000 genomes]
rs9489522	0.89[ASN][1000 genomes]
rs9489523	0.89[ASN][1000 genomes]
rs9489526	0.91[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs9489527	0.88[ASN][1000 genomes]
rs9489531	0.82[ASN][1000 genomes]
rs962393	0.91[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs9784804	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119105400-119110400	Weak transcription	HSMMtube	muscle
2	chr6:119106200-119113400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:119106200-119113600	Weak transcription	Fetal Intestine Small	intestine
4	chr6:119106400-119110600	Weak transcription	Lung	lung
5	chr6:119106800-119110000	Weak transcription	Right Atrium	heart
6	chr6:119106800-119110400	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr6:119106800-119110600	Weak transcription	Brain Anterior Caudate	brain
8	chr6:119107000-119110400	Weak transcription	Fetal Brain Male	brain
9	chr6:119107800-119110600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr6:119107800-119111400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr6:119108000-119109800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr6:119108000-119109800	Enhancers	Brain Hippocampus Middle	brain
13	chr6:119108000-119110600	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr6:119108000-119110800	Enhancers	Primary T cells fromperipheralblood	blood
15	chr6:119108200-119109800	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr6:119108200-119109800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr6:119108200-119110800	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr6:119108400-119109800	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr6:119108400-119109800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
20	chr6:119108400-119110600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr6:119108600-119110200	Enhancers	Primary B cells from peripheral blood	blood
22	chr6:119108600-119111000	Enhancers	Fetal Thymus	thymus
23	chr6:119108800-119109800	Enhancers	Adipose Nuclei	Adipose
24	chr6:119108800-119109800	Enhancers	Dnd41	blood
25	chr6:119108800-119110200	Enhancers	Thymus	Thymus
26	chr6:119108800-119136000	Weak transcription	Aorta	Aorta
27	chr6:119109000-119109800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr6:119109000-119110200	Enhancers	Fetal Muscle Leg	muscle
29	chr6:119109000-119110400	Weak transcription	Brain Angular Gyrus	brain
30	chr6:119109200-119121600	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr6:119109400-119109800	Enhancers	Left Ventricle	heart
32	chr6:119109400-119110600	Weak transcription	Fetal Stomach	stomach
33	chr6:119109400-119121400	Weak transcription	Primary T cells from cord blood	blood
34	chr6:119109600-119109800	Enhancers	Monocytes-CD14+_RO01746	blood
35	chr6:119109600-119110000	Enhancers	Fetal Muscle Trunk	muscle
36	chr6:119109600-119110200	Weak transcription	Brain Cingulate Gyrus	brain
37	chr6:119109600-119110600	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr6:119109600-119110600	Weak transcription	Brain Substantia Nigra	brain

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