Variant report

Variant	rs73740816
Chromosome Location	chr6:27759740-27759741
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:27)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:27 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:27170058..27171703-chr6:27759137..27761536,2	K562	blood:
2	chr6:27129411..27129971-chr6:27759594..27760127,2	MCF-7	breast:
3	chr6:27739695..27740963-chr6:27759065..27761089,16	K562	blood:
4	chr6:27753086..27755536-chr6:27756533..27760305,3	MCF-7	breast:
5	chr6:27739903..27740843-chr6:27759520..27760687,12	MCF-7	breast:
6	chr6:27753667..27756583-chr6:27759368..27762944,3	MCF-7	breast:
7	chr6:27657772..27659329-chr6:27759649..27761328,2	K562	blood:
8	chr6:27485668..27488646-chr6:27758590..27761132,3	K562	blood:
9	chr6:27154579..27158488-chr6:27757538..27761648,4	MCF-7	breast:
10	chr6:27114006..27117036-chr6:27757765..27761399,4	MCF-7	breast:
11	chr6:27094885..27095453-chr6:27759406..27760023,3	K562	blood:
12	chr6:27435057..27436916-chr6:27758569..27760207,2	K562	blood:
13	chr6:27744761..27747867-chr6:27758538..27761675,3	MCF-7	breast:
14	chr6:27109661..27117801-chr6:27755492..27760111,8	K562	blood:
15	chr6:27144331..27145885-chr6:27758916..27760697,2	MCF-7	breast:
16	chr6:27156279..27157260-chr6:27759304..27760417,5	K562	blood:
17	chr6:27154554..27158026-chr6:27757603..27761465,4	K562	blood:
18	chr6:27218912..27219556-chr6:27759579..27760443,2	K562	blood:
19	chr6:27486617..27489499-chr6:27758856..27760750,2	K562	blood:
20	chr6:27740030..27740808-chr6:27759602..27760720,5	MCF-7	breast:
21	chr6:27100058..27102201-chr6:27759619..27761680,3	K562	blood:
22	chr6:27145619..27146177-chr6:27759593..27760501,2	MCF-7	breast:
23	chr6:27516838..27518363-chr6:27758772..27760622,2	K562	blood:
24	chr6:27124582..27127541-chr6:27758021..27760797,2	K562	blood:
25	chr6:27112343..27120362-chr6:27757252..27765476,17	K562	blood:
26	chr6:27129337..27130597-chr6:27759299..27760721,7	K562	blood:
27	chr6:27738620..27740539-chr6:27758419..27760190,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000196787	Chromatin interaction
ENSG00000184825	Chromatin interaction
ENSG00000265565	Chromatin interaction
ENSG00000197903	Chromatin interaction
ENSG00000112812	Chromatin interaction
ENSG00000124635	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs55761446	1.00[AMR][1000 genomes]
rs55810724	1.00[AMR][1000 genomes]
rs56096322	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56358872	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56393640	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57044733	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57270702	1.00[AMR][1000 genomes]
rs57606279	1.00[AMR][1000 genomes]
rs58040059	1.00[AMR][1000 genomes]
rs58677321	1.00[AMR][1000 genomes]
rs60242525	1.00[AMR][1000 genomes]
rs60512267	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60542036	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60566574	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61499563	1.00[AMR][1000 genomes]
rs73739605	1.00[AMR][1000 genomes]
rs73739607	1.00[AMR][1000 genomes]
rs73739608	1.00[AMR][1000 genomes]
rs73739609	1.00[AMR][1000 genomes]
rs73739686	1.00[AMR][1000 genomes]
rs73739687	1.00[AMR][1000 genomes]
rs73739689	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73739691	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73739696	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73740807	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73740808	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73740809	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73740819	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73740835	1.00[AMR][1000 genomes]
rs73740839	1.00[AMR][1000 genomes]
rs73740871	1.00[AMR][1000 genomes]
rs73740872	1.00[AMR][1000 genomes]
rs73740874	1.00[AMR][1000 genomes]
rs73741616	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73741618	1.00[AFR][1000 genomes]
rs73741620	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73741622	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73741623	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9767465	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022797	chr6:27396961-27864277	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	390 gene(s)	inside rSNPs	diseases
2	nsv830618	chr6:27593274-27789605	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
3	nsv432858	chr6:27719375-28011652	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	387 gene(s)	inside rSNPs	diseases
4	nsv1017440	chr6:27734824-27864277	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	370 gene(s)	inside rSNPs	diseases
5	nsv1022173	chr6:27734824-27959408	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	379 gene(s)	inside rSNPs	diseases
6	nsv1017057	chr6:27745777-27789683	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	125 gene(s)	inside rSNPs	diseases
7	nsv883512	chr6:27748631-27969004	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	379 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27759000-27759800	Active TSS	Brain Germinal Matrix	brain
2	chr6:27759000-27760000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr6:27759000-27760200	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr6:27759000-27760200	Active TSS	Hela-S3	cervix
5	chr6:27759000-27760400	Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chr6:27759000-27760400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr6:27759000-27760400	Active TSS	Brain Angular Gyrus	brain
8	chr6:27759000-27760400	Active TSS	Brain Cingulate Gyrus	brain
9	chr6:27759000-27760400	Active TSS	HMEC	breast
10	chr6:27759000-27760400	Active TSS	NH-A	brain
11	chr6:27759000-27760600	Active TSS	Ovary	ovary
12	chr6:27759000-27760600	Active TSS	Right Atrium	heart
13	chr6:27759000-27760600	Active TSS	Stomach Mucosa	stomach
14	chr6:27759000-27760800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr6:27759000-27760800	Active TSS	NHLF	lung
16	chr6:27759000-27761000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr6:27759000-27761000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr6:27759000-27761000	Active TSS	iPS-20b Cell Line	embryonic stem cell
19	chr6:27759000-27761000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr6:27759000-27761000	Active TSS	Fetal Kidney	kidney
21	chr6:27759000-27761000	Active TSS	NHDF-Ad	bronchial
22	chr6:27759000-27761200	Active TSS	H1 Cell Line	embryonic stem cell
23	chr6:27759000-27761200	Active TSS	H9 Cell Line	embryonic stem cell
24	chr6:27759000-27761200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr6:27759000-27761200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr6:27759000-27761200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr6:27759000-27761200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr6:27759000-27761200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr6:27759000-27761400	Active TSS	HUES6 Cell Line	embryonic stem cell
30	chr6:27759000-27761400	Active TSS	HUES64 Cell Line	embryonic stem cell
31	chr6:27759000-27761600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr6:27759200-27759800	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
33	chr6:27759200-27759800	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
34	chr6:27759200-27759800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
35	chr6:27759200-27759800	Flanking Active TSS	Rectal Smooth Muscle	rectum
36	chr6:27759200-27759800	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
37	chr6:27759200-27759800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
38	chr6:27759200-27760000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr6:27759200-27760000	Flanking Active TSS	Adipose Nuclei	Adipose
40	chr6:27759200-27760000	Active TSS	Brain Substantia Nigra	brain
41	chr6:27759200-27760000	Flanking Active TSS	Colonic Mucosa	Colon
42	chr6:27759200-27760000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
43	chr6:27759200-27760000	Flanking Active TSS	Placenta	Placenta
44	chr6:27759200-27760000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
45	chr6:27759200-27760000	Flanking Active TSS	HUVEC	blood vessel
46	chr6:27759200-27760200	Active TSS	Brain Hippocampus Middle	brain
47	chr6:27759200-27760200	Active TSS	Esophagus	oesophagus
48	chr6:27759200-27760200	Flanking Bivalent TSS/Enh	Thymus	Thymus
49	chr6:27759200-27760200	Flanking Active TSS	HepG2	liver
50	chr6:27759200-27760400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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