Variant report

Variant	rs9295883
Chromosome Location	chr6:30419445-30419446
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:30418502..30422305-chr6:30429667..30432220,3	MCF-7	breast:
2	chr6:30292876..30295211-chr6:30419006..30421683,2	K562	blood:
3	chr6:30415302..30418095-chr6:30418692..30421060,4	K562	blood:
4	chr6:30320856..30322716-chr6:30417806..30419569,2	K562	blood:

Variant related genes	Relation type
ENSG00000204599	Chromatin interaction
ENSG00000270604	Chromatin interaction
ENSG00000231074	Chromatin interaction

Extended variants
information (count: 97 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:93)

rs_ID	r²[population]
rs10947078	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11752542	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11753256	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11756630	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11963959	0.82[EUR][1000 genomes]
rs11968858	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17411284	0.82[EUR][1000 genomes]
rs17411410	0.82[EUR][1000 genomes]
rs17411480	0.82[EUR][1000 genomes]
rs2077572	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2077573	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2078677	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2428536	0.82[EUR][1000 genomes]
rs34090585	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34101875	0.81[EUR][1000 genomes]
rs34186179	0.81[EUR][1000 genomes]
rs34340584	0.81[EUR][1000 genomes]
rs34435337	0.81[EUR][1000 genomes]
rs34551551	0.81[EUR][1000 genomes]
rs34552114	0.82[EUR][1000 genomes]
rs34708826	0.82[EUR][1000 genomes]
rs34727270	0.81[EUR][1000 genomes]
rs34762601	0.81[EUR][1000 genomes]
rs34960122	0.82[EUR][1000 genomes]
rs35230915	0.81[EUR][1000 genomes]
rs35235619	0.82[EUR][1000 genomes]
rs35268644	0.81[EUR][1000 genomes]
rs35328743	0.82[EUR][1000 genomes]
rs35365548	0.81[EUR][1000 genomes]
rs35407515	0.82[EUR][1000 genomes]
rs35698032	0.82[EUR][1000 genomes]
rs36034295	0.82[EUR][1000 genomes]
rs36093514	0.81[EUR][1000 genomes]
rs41265595	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4947282	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4959047	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4959048	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4959050	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57857421	0.82[EUR][1000 genomes]
rs6902129	0.82[EUR][1000 genomes]
rs6902374	0.82[EUR][1000 genomes]
rs6902400	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6902914	0.82[EUR][1000 genomes]
rs6924512	0.82[EUR][1000 genomes]
rs9261844	0.81[EUR][1000 genomes]
rs9261893	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9295870	0.82[EUR][1000 genomes]
rs9295872	0.82[EUR][1000 genomes]
rs9295874	0.82[EUR][1000 genomes]
rs9295876	0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9295877	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9295878	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9295879	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9295880	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9295881	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9295882	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9295884	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9295885	0.82[EUR][1000 genomes]
rs9295887	0.82[EUR][1000 genomes]
rs9295888	0.82[EUR][1000 genomes]
rs9295893	0.82[EUR][1000 genomes]
rs9295894	0.82[EUR][1000 genomes]
rs9461608	0.82[EUR][1000 genomes]
rs9461609	0.82[EUR][1000 genomes]
rs9461610	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9461611	0.82[EUR][1000 genomes]
rs9468737	0.82[EUR][1000 genomes]
rs9468758	0.82[EUR][1000 genomes]
rs9468760	0.82[EUR][1000 genomes]
rs9468768	0.82[EUR][1000 genomes]
rs9468771	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9468773	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9468774	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9501020	0.81[EUR][1000 genomes]
rs9501327	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9501329	0.82[EUR][1000 genomes]
rs9501335	0.82[EUR][1000 genomes]
rs9501336	0.82[EUR][1000 genomes]
rs9501466	0.82[EUR][1000 genomes]
rs9501468	0.82[EUR][1000 genomes]
rs9501469	0.82[EUR][1000 genomes]
rs9501471	0.82[EUR][1000 genomes]
rs9501472	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9501474	0.82[EUR][1000 genomes]
rs9885617	0.82[EUR][1000 genomes]
rs9885618	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9885620	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9885621	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9885622	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9885815	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9918350	0.82[EUR][1000 genomes]
rs9918389	0.81[EUR][1000 genomes]
rs9918488	0.82[EUR][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	nsv1025667	chr6:30292845-30638066	Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	825 gene(s)	inside rSNPs	diseases
2	esv3519970	chr6:30382942-31378788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
3	esv3519971	chr6:30382942-31378788	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
4	nsv601478	chr6:30383768-30438226	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 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	chr6:30417200-30421600	Bivalent Enhancer	Fetal Thymus	thymus
2	chr6:30417600-30419600	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr6:30417600-30419800	Enhancers	Primary hematopoietic stem cells	blood
4	chr6:30418200-30419600	Bivalent Enhancer	Placenta	Placenta
5	chr6:30418400-30419600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
6	chr6:30418400-30419600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
7	chr6:30418400-30419600	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
8	chr6:30418400-30419600	Bivalent Enhancer	Liver	Liver
9	chr6:30418400-30419600	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
10	chr6:30418400-30419800	Bivalent Enhancer	Esophagus	oesophagus
11	chr6:30418400-30419800	Bivalent Enhancer	Stomach Mucosa	stomach
12	chr6:30418400-30419800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
13	chr6:30418400-30421600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
14	chr6:30418400-30421600	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
15	chr6:30418600-30419600	Flanking Active TSS	Primary T cells from cord blood	blood
16	chr6:30418800-30419600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr6:30418800-30419600	Flanking Bivalent TSS/Enh	HepG2	liver
18	chr6:30419000-30419600	Bivalent Enhancer	Brain Anterior Caudate	brain
19	chr6:30419000-30419600	Bivalent Enhancer	Fetal Intestine Small	intestine
20	chr6:30419000-30419800	Enhancers	Lung	lung
21	chr6:30419000-30419800	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
22	chr6:30419200-30419600	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr6:30419200-30419600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
24	chr6:30419200-30419600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
25	chr6:30419200-30419800	Bivalent Enhancer	Primary B cells from cord blood	blood
26	chr6:30419200-30419800	Bivalent Enhancer	Thymus	Thymus
27	chr6:30419200-30419800	Bivalent Enhancer	Spleen	Spleen
28	chr6:30419200-30420000	Enhancers	Dnd41	blood
29	chr6:30419200-30421000	Weak transcription	Right Atrium	heart
30	chr6:30419200-30421200	Weak transcription	Right Ventricle	heart
31	chr6:30419200-30421400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
32	chr6:30419200-30421400	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
33	chr6:30419200-30421400	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
34	chr6:30419200-30421600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
35	chr6:30419200-30421800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
36	chr6:30419200-30421800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
37	chr6:30419200-30428600	Weak transcription	Pancreas	Pancrea
38	chr6:30419400-30419600	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
39	chr6:30419400-30419600	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr6:30419400-30419600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr6:30419400-30419600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr6:30419400-30419600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr6:30419400-30419600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr6:30419400-30419600	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
45	chr6:30419400-30419600	Bivalent Enhancer	Left Ventricle	heart
46	chr6:30419400-30419600	Bivalent Enhancer	Stomach Smooth Muscle	stomach
47	chr6:30419400-30419800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr6:30419400-30419800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr6:30419400-30420000	Bivalent Enhancer	GM12878-XiMat	blood
50	chr6:30419400-30421200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--

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