Variant report

Variant	rs73411997
Chromosome Location	chr6:34627340-34627341
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:34615191..34621424-chr6:34622750..34629225,8	K562	blood:
2	chr6:34624273..34628240-chr6:34629354..34635168,7	K562	blood:
3	chr6:34625394..34627775-chr6:34723853..34725702,2	K562	blood:
4	chr6:34626818..34628711-chr6:34634267..34636276,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000124562	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs3734267	1.00[EUR][1000 genomes]
rs57048285	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57157056	1.00[EUR][1000 genomes]
rs58971485	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59183825	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60220209	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61316456	1.00[EUR][1000 genomes]
rs61510762	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61732794	1.00[EUR][1000 genomes]
rs6901047	1.00[EUR][1000 genomes]
rs6906562	1.00[EUR][1000 genomes]
rs6908049	1.00[EUR][1000 genomes]
rs6913199	1.00[EUR][1000 genomes]
rs6913396	1.00[EUR][1000 genomes]
rs6919218	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6921954	1.00[EUR][1000 genomes]
rs6938501	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73407800	1.00[EUR][1000 genomes]
rs73409960	1.00[EUR][1000 genomes]
rs73409969	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73409978	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73409980	1.00[EUR][1000 genomes]
rs73409982	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73409987	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73409995	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73409996	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73410000	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73411933	1.00[EUR][1000 genomes]
rs73411950	1.00[EUR][1000 genomes]
rs73411961	1.00[EUR][1000 genomes]
rs73413803	1.00[EUR][1000 genomes]
rs73413867	1.00[EUR][1000 genomes]
rs7738897	1.00[EUR][1000 genomes]
rs7739387	1.00[EUR][1000 genomes]
rs7741204	1.00[EUR][1000 genomes]
rs7742598	1.00[EUR][1000 genomes]
rs7745409	1.00[EUR][1000 genomes]
rs7748850	1.00[EUR][1000 genomes]
rs7758202	1.00[EUR][1000 genomes]
rs7762266	1.00[EUR][1000 genomes]
rs7763026	1.00[EUR][1000 genomes]
rs7766367	1.00[EUR][1000 genomes]
rs7768926	1.00[EUR][1000 genomes]
rs7772931	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	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:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34625000-34631800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:34625600-34631200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr6:34625600-34631400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr6:34625600-34631600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr6:34625800-34627400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr6:34625800-34627400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr6:34625800-34627400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr6:34625800-34628000	Enhancers	Right Atrium	heart
9	chr6:34625800-34629400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr6:34625800-34630200	Enhancers	HepG2	liver
11	chr6:34625800-34630800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr6:34625800-34631600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr6:34625800-34631600	Weak transcription	HSMMtube	muscle
14	chr6:34625800-34631800	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr6:34625800-34631800	Weak transcription	Fetal Lung	lung
16	chr6:34625800-34635400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr6:34625800-34640600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr6:34626000-34630800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr6:34626000-34631400	Weak transcription	Primary B cells from cord blood	blood
20	chr6:34626000-34631600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr6:34626000-34631800	Weak transcription	Brain Anterior Caudate	brain
22	chr6:34626000-34632000	Weak transcription	Fetal Thymus	thymus
23	chr6:34626000-34632600	Weak transcription	Aorta	Aorta
24	chr6:34626000-34634400	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr6:34626000-34647600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr6:34626000-34662000	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr6:34626200-34627400	Weak transcription	Fetal Stomach	stomach
28	chr6:34626200-34627400	Enhancers	Gastric	stomach
29	chr6:34626200-34627400	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr6:34626200-34630800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr6:34626200-34631400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr6:34626200-34631600	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr6:34626200-34631600	Weak transcription	NH-A	brain
34	chr6:34626600-34630400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr6:34626600-34631600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr6:34626800-34628200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr6:34626800-34628200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr6:34626800-34628400	Genic enhancers	K562	blood
39	chr6:34626800-34628800	Weak transcription	HUVEC	blood vessel
40	chr6:34626800-34631600	Weak transcription	Colon Smooth Muscle	Colon
41	chr6:34626800-34632000	Weak transcription	Brain Hippocampus Middle	brain
42	chr6:34626800-34641600	Weak transcription	Stomach Smooth Muscle	stomach
43	chr6:34626800-34662400	Weak transcription	Fetal Muscle Trunk	muscle
44	chr6:34627000-34627400	Enhancers	A549	lung
45	chr6:34627000-34628000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr6:34627000-34628200	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr6:34627000-34628400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr6:34627000-34628400	Weak transcription	Primary hematopoietic stem cells	blood
49	chr6:34627000-34628400	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr6:34627000-34628600	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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