Variant report

Variant	rs73434210
Chromosome Location	chr7:111411349-111411350
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:111410965..111413239-chr7:111413303..111415899,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11978729	0.81[AMR][1000 genomes]
rs11981927	0.81[AMR][1000 genomes]
rs3213630	0.81[AMR][1000 genomes]
rs3213631	1.00[ASN][1000 genomes]
rs3213632	0.81[AMR][1000 genomes]
rs56683533	0.81[AMR][1000 genomes]
rs57136946	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58250389	0.81[AMR][1000 genomes]
rs6952833	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6964105	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs73432091	0.81[AMR][1000 genomes]
rs73432092	0.81[AMR][1000 genomes]
rs73432093	0.81[AMR][1000 genomes]
rs73432094	0.81[AMR][1000 genomes]
rs73432100	0.81[AMR][1000 genomes]
rs73434205	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73434206	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73434207	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73434211	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73434213	0.81[AMR][1000 genomes]
rs73434215	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73434223	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73434233	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73434236	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7778290	0.81[AMR][1000 genomes]
rs7778293	0.81[AMR][1000 genomes]
rs7778482	0.81[AMR][1000 genomes]
rs7778607	0.81[AMR][1000 genomes]
rs7778675	0.81[AMR][1000 genomes]
rs7778828	0.81[AMR][1000 genomes]
rs7793316	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7795709	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7801388	0.81[AMR][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	nsv608196	chr7:111073710-111794368	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers 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	27 gene(s)	inside rSNPs	diseases
2	nsv932103	chr7:111092431-111412049	Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv869375	chr7:111105151-111470811	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv608215	chr7:111183610-111533520	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv1021527	chr7:111194596-111851619	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	nsv539086	chr7:111194596-111851619	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv1028740	chr7:111227747-111679401	Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv1015267	chr7:111303294-111714771	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv539087	chr7:111303294-111714771	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv539088	chr7:111333899-111722341	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	nsv531435	chr7:111333900-111926292	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
12	nsv491934	chr7:111333900-111975504	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
13	nsv1034375	chr7:111337109-111459099	Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:111363000-111418000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr7:111373600-111414000	Weak transcription	Right Ventricle	heart
3	chr7:111379600-111433600	Weak transcription	Esophagus	oesophagus
4	chr7:111389200-111416800	Weak transcription	Placenta	Placenta
5	chr7:111390400-111435600	Weak transcription	Psoas Muscle	Psoas
6	chr7:111390600-111431800	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr7:111393800-111417000	Weak transcription	Fetal Kidney	kidney
8	chr7:111395000-111416800	Weak transcription	Pancreas	Pancrea
9	chr7:111397200-111411400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr7:111397200-111411400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr7:111397200-111421800	Weak transcription	NHDF-Ad	bronchial
12	chr7:111397800-111421200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr7:111398000-111435000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr7:111398200-111434000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr7:111399000-111416600	Weak transcription	Fetal Muscle Leg	muscle
16	chr7:111399000-111432800	Weak transcription	Fetal Muscle Trunk	muscle
17	chr7:111399400-111417600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr7:111400400-111411400	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr7:111400400-111416600	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr7:111400400-111435800	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr7:111400600-111415400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr7:111400600-111417800	Weak transcription	Fetal Brain Male	brain
23	chr7:111401800-111417000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr7:111401800-111418000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr7:111403800-111413000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr7:111404000-111416200	Strong transcription	HUVEC	blood vessel
27	chr7:111404200-111417000	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr7:111404200-111419600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr7:111404600-111435400	Weak transcription	NHEK	skin
30	chr7:111405000-111415800	Weak transcription	Gastric	stomach
31	chr7:111405600-111414200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr7:111406400-111418800	Strong transcription	Brain Anterior Caudate	brain
33	chr7:111406600-111416000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr7:111406600-111417000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr7:111406800-111413200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr7:111406800-111435600	Weak transcription	Osteobl	bone
37	chr7:111407000-111412600	Strong transcription	Brain Hippocampus Middle	brain
38	chr7:111407600-111412800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr7:111408200-111412200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr7:111408200-111412800	Strong transcription	Left Ventricle	heart
41	chr7:111408200-111413400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr7:111408200-111417000	Strong transcription	Fetal Lung	lung
43	chr7:111408600-111417200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr7:111408800-111412000	Strong transcription	Lung	lung
45	chr7:111409000-111412000	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr7:111409000-111413200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr7:111409000-111418600	Strong transcription	Brain Inferior Temporal Lobe	brain
48	chr7:111409200-111411600	Strong transcription	Ovary	ovary
49	chr7:111409200-111412000	Strong transcription	Adipose Nuclei	Adipose
50	chr7:111409400-111417000	Weak transcription	Brain Germinal Matrix	brain

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