Variant report

Variant	rs73742928
Chromosome Location	chr6:28511625-28511626
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:28439477..28442256-chr6:28509445..28511862,2	K562	blood:
2	chr6:28508365..28512579-chr6:28582414..28584502,4	K562	blood:
3	chr6:28510237..28512040-chr6:28576892..28578404,2	K562	blood:
4	chr6:28364273..28366438-chr6:28510597..28512229,2	K562	blood:
5	chr6:28510221..28512274-chr6:28527181..28528821,2	K562	blood:
6	chr6:28508074..28513880-chr6:28531341..28537609,9	K562	blood:
7	chr6:28317772..28319708-chr6:28509467..28511768,2	K562	blood:
8	chr6:28509624..28513880-chr6:28531310..28536044,4	K562	blood:
9	chr6:28367674..28369905-chr6:28510832..28512890,2	K562	blood:
10	chr6:28508618..28512579-chr6:28580487..28584134,6	K562	blood:
11	chr6:28510133..28512590-chr6:28554507..28556682,2	MCF-7	breast:
12	chr6:28470071..28472229-chr6:28510465..28513041,2	K562	blood:
13	chr6:28510407..28512273-chr6:28513492..28515889,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000246350	Chromatin interaction
ENSG00000232040	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs16894180	1.00[AMR][1000 genomes]
rs16894183	1.00[AMR][1000 genomes]
rs16894218	1.00[AMR][1000 genomes]
rs34626566	1.00[AMR][1000 genomes]
rs35783771	1.00[AMR][1000 genomes]
rs4441948	1.00[AMR][1000 genomes]
rs55826226	1.00[AMR][1000 genomes]
rs55906309	1.00[AMR][1000 genomes]
rs56100858	1.00[AMR][1000 genomes]
rs56127972	0.85[AMR][1000 genomes]
rs56208653	0.92[AMR][1000 genomes]
rs56364512	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56958472	0.92[AMR][1000 genomes]
rs57672617	1.00[AMR][1000 genomes]
rs58172306	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58341861	1.00[AMR][1000 genomes]
rs59109668	1.00[AMR][1000 genomes]
rs59834324	1.00[AMR][1000 genomes]
rs60661227	1.00[AMR][1000 genomes]
rs73740605	1.00[AMR][1000 genomes]
rs73740628	1.00[AMR][1000 genomes]
rs73740636	1.00[AMR][1000 genomes]
rs73740738	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73740740	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73740741	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73740742	1.00[AMR][1000 genomes]
rs73740744	1.00[AMR][1000 genomes]
rs73740745	1.00[AMR][1000 genomes]
rs73740968	1.00[AMR][1000 genomes]
rs73742927	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73742929	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73742930	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73742931	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73742932	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73743506	0.92[AMR][1000 genomes]
rs73743507	0.92[AMR][1000 genomes]
rs73743508	1.00[AMR][1000 genomes]
rs73743510	1.00[AMR][1000 genomes]
rs73743511	1.00[AMR][1000 genomes]
rs73744130	1.00[AMR][1000 genomes]
rs73744134	1.00[AMR][1000 genomes]
rs73744135	1.00[AMR][1000 genomes]
rs73744136	1.00[AMR][1000 genomes]
rs73744140	1.00[AMR][1000 genomes]
rs73744141	1.00[AMR][1000 genomes]
rs963937	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv462666	chr6:28417222-28574415	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv601210	chr6:28417222-28574415	Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv1020689	chr6:28449137-28635171	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
4	nsv830621	chr6:28473951-28675709	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv601211	chr6:28483482-28521316	Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
6	nsv435838	chr6:28507880-28514263	Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28509600-28512800	Active TSS	H1 Cell Line	embryonic stem cell
2	chr6:28509800-28511800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
3	chr6:28509800-28512200	Active TSS	A549	lung
4	chr6:28509800-28512600	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr6:28509800-28512600	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr6:28509800-28512600	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr6:28509800-28512600	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr6:28509800-28512800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr6:28509800-28512800	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr6:28509800-28512800	Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr6:28510000-28512000	Active TSS	Fetal Intestine Small	intestine
12	chr6:28510000-28512200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr6:28510000-28512200	Active TSS	Fetal Intestine Large	intestine
14	chr6:28510000-28512400	Active TSS	H9 Cell Line	embryonic stem cell
15	chr6:28510000-28512400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr6:28510000-28512400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr6:28510000-28512400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr6:28510000-28512600	Active TSS	Fetal Kidney	kidney
19	chr6:28510000-28512800	Active TSS	iPS-18 Cell Line	embryonic stem cell
20	chr6:28510200-28512000	Active TSS	Brain Anterior Caudate	brain
21	chr6:28510200-28512000	Active TSS	Rectal Mucosa Donor 29	rectum
22	chr6:28510200-28512200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr6:28510200-28512200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr6:28510200-28512200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr6:28510200-28512200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr6:28510200-28512400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr6:28510200-28512400	Active TSS	Fetal Lung	lung
28	chr6:28510200-28512800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr6:28510400-28512000	Bivalent/Poised TSS	Brain Germinal Matrix	brain
30	chr6:28510400-28512000	Active TSS	Brain Inferior Temporal Lobe	brain
31	chr6:28510400-28512200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr6:28510400-28512200	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
33	chr6:28510400-28512400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr6:28510800-28511800	Bivalent/Poised TSS	Thymus	Thymus
35	chr6:28510800-28512000	Active TSS	Fetal Brain Female	brain
36	chr6:28510800-28512200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
37	chr6:28510800-28512200	Active TSS	Brain Hippocampus Middle	brain
38	chr6:28510800-28512200	Bivalent/Poised TSS	Fetal Stomach	stomach
39	chr6:28510800-28512600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr6:28510800-28521600	Weak transcription	Pancreas	Pancrea
41	chr6:28511000-28511800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
42	chr6:28511000-28512200	Flanking Active TSS	Primary hematopoietic stem cells	blood
43	chr6:28511000-28512200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
44	chr6:28511200-28511800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
45	chr6:28511200-28511800	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
46	chr6:28511200-28511800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr6:28511200-28511800	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
48	chr6:28511200-28511800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
49	chr6:28511200-28511800	Flanking Active TSS	Fetal Thymus	thymus
50	chr6:28511200-28512000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood

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