Variant report

Variant	rs55990920
Chromosome Location	chr7:50687531-50687532
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:50685467..50688142-chr7:50689785..50691543,2	K562	blood:
2	chr7:50685540..50687929-chr7:50689189..50691157,2	MCF-7	breast:
3	chr7:50687199..50689206-chr7:50691884..50694076,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11761328	0.85[ASN][1000 genomes]
rs11770199	1.00[ASN][1000 genomes]
rs1468451	1.00[ASN][1000 genomes]
rs62447517	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7810039	0.85[ASN][1000 genomes]
rs963161	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1015758	chr7:50565404-50768153	Flanking Active TSS Genic enhancers Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv1023228	chr7:50573214-50777634	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers 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	6 gene(s)	inside rSNPs	diseases
4	nsv1032882	chr7:50611138-50775257	Genic enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv538834	chr7:50611138-50775257	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv1031138	chr7:50651793-50814881	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
7	nsv1021753	chr7:50671350-50694457	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv1020791	chr7:50673666-50694457	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv606906	chr7:50673666-50694457	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50658200-50690400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr7:50658800-50690000	Weak transcription	Fetal Kidney	kidney
3	chr7:50659800-50687800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr7:50659800-50697200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr7:50660600-50688000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:50665000-50688000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr7:50668000-50689000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:50671600-50696800	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr7:50674200-50694000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr7:50674200-50709800	Weak transcription	Esophagus	oesophagus
11	chr7:50674400-50699000	Weak transcription	Brain Germinal Matrix	brain
12	chr7:50676800-50688200	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr7:50677000-50687800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr7:50677000-50696000	Strong transcription	Cortex derived primary cultured neurospheres	brain
15	chr7:50677600-50688000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr7:50679000-50688200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr7:50679200-50691600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr7:50679400-50688600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr7:50680200-50689000	Weak transcription	Psoas Muscle	Psoas
20	chr7:50680200-50695800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr7:50681200-50699800	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr7:50682000-50687600	Weak transcription	Colon Smooth Muscle	Colon
23	chr7:50682200-50692400	Weak transcription	NHDF-Ad	bronchial
24	chr7:50682200-50694200	Weak transcription	Fetal Brain Female	brain
25	chr7:50682200-50699200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr7:50682400-50688800	Weak transcription	Fetal Muscle Leg	muscle
27	chr7:50682400-50690200	Weak transcription	Rectal Smooth Muscle	rectum
28	chr7:50682400-50695200	Weak transcription	Brain Substantia Nigra	brain
29	chr7:50682400-50695400	Weak transcription	Brain Hippocampus Middle	brain
30	chr7:50682400-50695600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr7:50682400-50695800	Weak transcription	NHLF	lung
32	chr7:50682600-50688200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr7:50682600-50688800	Weak transcription	Ovary	ovary
34	chr7:50682600-50693800	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr7:50682600-50695400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr7:50682600-50695400	Weak transcription	Brain Cingulate Gyrus	brain
37	chr7:50682600-50695800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr7:50682600-50698200	Weak transcription	Brain Angular Gyrus	brain
39	chr7:50682600-50699400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr7:50682600-50700400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr7:50682600-50700400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr7:50682600-50704600	Weak transcription	Primary hematopoietic stem cells	blood
43	chr7:50682800-50698800	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr7:50683000-50695400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr7:50683000-50700400	Weak transcription	A549	lung
46	chr7:50683200-50687600	Weak transcription	Aorta	Aorta
47	chr7:50683400-50693800	Weak transcription	Gastric	stomach
48	chr7:50683400-50695800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr7:50683400-50699600	Weak transcription	Colonic Mucosa	Colon
50	chr7:50683600-50700400	Weak transcription	Rectal Mucosa Donor 29	rectum

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