Variant report

Variant	rs73411992
Chromosome Location	chr6:34624528-34624529
allele	A/G
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:34623901..34626181-chr6:34657612..34659436,2	MCF-7	breast:
2	chr6:34615191..34621424-chr6:34622750..34629225,8	K562	blood:
3	chr6:34624273..34628240-chr6:34629354..34635168,7	K562	blood:
4	chr6:34624269..34626761-chr6:34723872..34726959,3	MCF-7	breast:
5	chr6:34615962..34618182-chr6:34622814..34624766,2	K562	blood:
6	chr6:34622560..34624840-chr6:34739559..34741975,2	K562	blood:
7	chr6:34611223..34612801-chr6:34622555..34624943,2	K562	blood:
8	chr6:34624408..34626626-chr6:34638129..34641870,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000124562	Chromatin interaction
ENSG00000196821	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs12111029	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57106758	1.00[ASN][1000 genomes]
rs58971485	1.00[ASN][1000 genomes]
rs59183825	1.00[ASN][1000 genomes]
rs59191826	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59240548	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60220209	1.00[ASN][1000 genomes]
rs60345670	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61510762	1.00[ASN][1000 genomes]
rs6913723	1.00[ASN][1000 genomes]
rs6919218	1.00[ASN][1000 genomes]
rs6924259	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6927376	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6931073	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6931985	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6936924	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6938501	1.00[ASN][1000 genomes]
rs6939293	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6939783	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73409960	1.00[ASN][1000 genomes]
rs73409969	1.00[ASN][1000 genomes]
rs73409978	1.00[ASN][1000 genomes]
rs73409982	1.00[ASN][1000 genomes]
rs73409987	1.00[ASN][1000 genomes]
rs73409995	1.00[ASN][1000 genomes]
rs73409996	1.00[ASN][1000 genomes]
rs73410000	1.00[ASN][1000 genomes]
rs73411915	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73411935	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73411944	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73411956	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73411957	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73411971	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73411982	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73411984	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73411995	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73413804	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73413808	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73413811	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73413812	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73413815	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73413824	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73413828	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73413843	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73413845	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73413847	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73413854	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73413869	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73413870	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73413875	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73413879	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73413885	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73746653	1.00[ASN][1000 genomes]
rs7742598	1.00[ASN][1000 genomes]
rs7759296	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7762752	1.00[ASN][1000 genomes]
rs7766657	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9942450	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv1022844	chr6:34317219-35060519	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv538195	chr6:34317219-35060519	Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	esv2758046	chr6:34382492-34714677	Genic enhancers Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	esv2759418	chr6:34382492-34714677	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv885785	chr6:34404636-34874002	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	nsv1033583	chr6:34471572-34828372	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
7	nsv885793	chr6:34520267-34886436	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
8	nsv830640	chr6:34542489-34714677	Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
9	nsv885794	chr6:34561585-34673149	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
10	nsv1032557	chr6:34565802-34802008	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
11	nsv538196	chr6:34565802-34802008	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
12	esv2763967	chr6:34566255-34925463	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
13	nsv1020710	chr6:34607214-34890143	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34603600-34625800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:34612400-34625000	Weak transcription	Fetal Brain Male	brain
3	chr6:34613600-34624600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr6:34613600-34625000	Weak transcription	Esophagus	oesophagus
5	chr6:34614000-34624600	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr6:34614600-34625000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr6:34615000-34625000	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr6:34619200-34625000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr6:34621600-34626800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr6:34622600-34624800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr6:34622600-34624800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr6:34622800-34624800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:34623200-34624800	Enhancers	Primary B cells from cord blood	blood
14	chr6:34623200-34624800	Enhancers	Fetal Intestine Large	intestine
15	chr6:34623400-34624600	Enhancers	Primary T cells from cord blood	blood
16	chr6:34623400-34624600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr6:34623400-34624800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr6:34623400-34624800	Enhancers	Colon Smooth Muscle	Colon
19	chr6:34623400-34625000	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr6:34623400-34625000	Enhancers	Primary B cells from peripheral blood	blood
21	chr6:34623400-34625000	Enhancers	Fetal Stomach	stomach
22	chr6:34623400-34625800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
23	chr6:34623400-34625800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
24	chr6:34623600-34624600	Enhancers	Fetal Intestine Small	intestine
25	chr6:34623600-34624600	Enhancers	Fetal Muscle Trunk	muscle
26	chr6:34623600-34624600	Enhancers	Fetal Muscle Leg	muscle
27	chr6:34623600-34624600	Enhancers	Left Ventricle	heart
28	chr6:34623600-34624800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr6:34623600-34624800	Enhancers	Fetal Thymus	thymus
30	chr6:34623600-34624800	Enhancers	HMEC	breast
31	chr6:34623600-34625000	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr6:34623600-34625000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr6:34623600-34625800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr6:34623800-34624800	Enhancers	Fetal Lung	lung
35	chr6:34623800-34625200	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr6:34623800-34625800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
37	chr6:34623800-34625800	Flanking Active TSS	Duodenum Mucosa	Duodenum
38	chr6:34623800-34625800	Enhancers	Gastric	stomach
39	chr6:34623800-34627000	Enhancers	Pancreas	Pancrea
40	chr6:34624000-34624600	Enhancers	NH-A	brain
41	chr6:34624000-34624800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
42	chr6:34624000-34624800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
43	chr6:34624000-34624800	Flanking Active TSS	Brain Anterior Caudate	brain
44	chr6:34624000-34624800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
45	chr6:34624000-34624800	Enhancers	Thymus	Thymus
46	chr6:34624000-34624800	Enhancers	NHEK	skin
47	chr6:34624000-34625000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr6:34624000-34625000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr6:34624000-34625000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr6:34624000-34625000	Enhancers	Breast Myoepithelial Primary Cells	Breast

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