Variant report

Variant	rs73206937
Chromosome Location	chr7:86795392-86795393
allele	C/T
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:86789627..86792814-chr7:86793487..86796665,4	MCF-7	breast:
2	chr7:86780653..86784932-chr7:86790317..86796236,8	MCF-7	breast:
3	chr7:86792984..86795614-chr7:86847472..86850861,3	MCF-7	breast:
4	chr7:86785961..86790922-chr7:86794752..86798878,5	MCF-7	breast:
5	chr7:86729004..86730749-chr7:86793705..86795432,2	K562	blood:
6	chr7:86793067..86795598-chr7:86796456..86798752,2	MCF-7	breast:
7	chr7:86781730..86783315-chr7:86795097..86798018,2	MCF-7	breast:
8	chr7:86787017..86789055-chr7:86792968..86795917,2	MCF-7	breast:
9	chr7:86625566..86628417-chr7:86793431..86795954,2	K562	blood:
10	chr7:86793446..86796829-chr7:86819626..86821826,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000135185	Chromatin interaction
ENSG00000200397	Chromatin interaction
ENSG00000224046	Chromatin interaction
ENSG00000135164	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11762311	0.86[AMR][1000 genomes]
rs11769063	0.86[AMR][1000 genomes]
rs11771569	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11773103	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11971131	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11978231	0.83[AMR][1000 genomes]
rs17161329	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55750589	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55834411	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56378450	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73202978	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73202980	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73202982	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73202993	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73204819	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73204890	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73204892	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73204895	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73206905	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73206912	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73206916	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73206984	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73208507	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73208517	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73208522	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73208537	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73208546	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73210234	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73210242	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73210250	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73210264	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025277	chr7:86299224-87206007	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv538999	chr7:86299224-87206007	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv532147	chr7:86299225-87121975	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	nsv1015870	chr7:86490491-86802320	Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
5	nsv539000	chr7:86490491-86802320	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
6	nsv527889	chr7:86496042-86832603	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
7	nsv1016761	chr7:86758544-86914152	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
8	nsv888676	chr7:86781423-86858824	Active TSS Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Enhancers 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	57 gene(s)	inside rSNPs	diseases
9	nsv1026193	chr7:86790391-86856448	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
10	nsv539003	chr7:86790391-86856448	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:86782600-86811400	Weak transcription	Spleen	Spleen
2	chr7:86782800-86798000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:86782800-86798400	Weak transcription	Gastric	stomach
4	chr7:86782800-86810800	Weak transcription	Esophagus	oesophagus
5	chr7:86782800-86811400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr7:86783000-86798000	Weak transcription	Lung	lung
7	chr7:86783000-86834000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr7:86783200-86799600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:86784000-86796000	Weak transcription	Colonic Mucosa	Colon
10	chr7:86784200-86796200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr7:86784600-86799600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr7:86785000-86795800	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr7:86785600-86813400	Weak transcription	Stomach Mucosa	stomach
14	chr7:86785600-86822600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr7:86786000-86795400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr7:86786000-86795400	Weak transcription	Psoas Muscle	Psoas
17	chr7:86786000-86795400	Weak transcription	Right Ventricle	heart
18	chr7:86786000-86797400	Weak transcription	Fetal Brain Male	brain
19	chr7:86786000-86801200	Weak transcription	Fetal Intestine Small	intestine
20	chr7:86786600-86828400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:86786800-86796400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr7:86788600-86830400	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr7:86788600-86832400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr7:86789000-86832400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr7:86789000-86832400	Strong transcription	Dnd41	blood
26	chr7:86789400-86830800	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr7:86789600-86832400	Strong transcription	Fetal Thymus	thymus
28	chr7:86789800-86795400	Weak transcription	Ovary	ovary
29	chr7:86789800-86833000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr7:86790000-86811400	Weak transcription	Pancreas	Pancrea
31	chr7:86791000-86831600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr7:86791200-86829400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
33	chr7:86791400-86803600	Strong transcription	Fetal Muscle Leg	muscle
34	chr7:86791400-86807200	Strong transcription	Osteobl	bone
35	chr7:86791400-86807800	Strong transcription	Primary B cells from peripheral blood	blood
36	chr7:86791400-86809200	Strong transcription	K562	blood
37	chr7:86791400-86819800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr7:86791400-86830000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr7:86791400-86831800	Strong transcription	HUES48 Cell Line	embryonic stem cell
40	chr7:86791400-86831800	Strong transcription	HUES6 Cell Line	embryonic stem cell
41	chr7:86791600-86810800	Weak transcription	Small Intestine	intestine
42	chr7:86791600-86830600	Strong transcription	Primary T cells fromperipheralblood	blood
43	chr7:86791600-86830600	Strong transcription	NHDF-Ad	bronchial
44	chr7:86791800-86805200	Strong transcription	Primary T helper cells PMA-I stimulated	--
45	chr7:86791800-86831000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr7:86792000-86800000	Strong transcription	GM12878-XiMat	blood
47	chr7:86792000-86817600	Strong transcription	Primary hematopoietic stem cells	blood
48	chr7:86792000-86829200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr7:86792200-86798800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr7:86792400-86806200	Strong transcription	HSMM	muscle

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