Variant report

Variant	rs35290068
Chromosome Location	chr7:79757433-79757434
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:79749208..79750718-chr7:79754504..79757482,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10236183	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10244538	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10266446	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10277713	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10486926	0.82[EUR][1000 genomes]
rs12530885	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12706640	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17153463	0.87[EUR][1000 genomes]
rs2015430	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2078181	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4728014	0.82[EUR][1000 genomes]
rs4731234	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs717114	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs717115	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7458626	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429785	chr7:79589749-80177049	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1027494	chr7:79693976-79760332	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:79754400-79758800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr7:79754400-79762000	Weak transcription	Fetal Thymus	thymus
3	chr7:79754600-79758000	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr7:79754600-79758200	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr7:79755200-79758600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr7:79755400-79758400	Enhancers	Brain Anterior Caudate	brain
7	chr7:79755400-79758600	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr7:79755600-79758000	Enhancers	Brain Substantia Nigra	brain
9	chr7:79755600-79758200	Enhancers	Brain Hippocampus Middle	brain
10	chr7:79755600-79758600	Enhancers	Brain Cingulate Gyrus	brain
11	chr7:79755800-79758000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr7:79755800-79758200	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr7:79756000-79757600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:79756000-79758000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
15	chr7:79756000-79758400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
16	chr7:79756000-79758800	Enhancers	Primary hematopoietic stem cells	blood
17	chr7:79756200-79758000	Enhancers	Brain Angular Gyrus	brain
18	chr7:79756200-79758200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
19	chr7:79756200-79758600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
20	chr7:79756400-79757600	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr7:79756400-79757800	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr7:79756400-79757800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr7:79756600-79758200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr7:79756600-79758400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr7:79756800-79757600	Enhancers	Fetal Lung	lung
26	chr7:79756800-79757600	Enhancers	Fetal Muscle Leg	muscle
27	chr7:79756800-79757800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr7:79756800-79758800	Enhancers	Placenta	Placenta
29	chr7:79757000-79757600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr7:79757000-79758000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr7:79757200-79757600	Enhancers	Liver	Liver
32	chr7:79757200-79757600	Enhancers	Duodenum Smooth Muscle	Duodenum
33	chr7:79757200-79757600	Enhancers	Fetal Brain Female	brain
34	chr7:79757200-79757600	Enhancers	Dnd41	blood
35	chr7:79757200-79758400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr7:79757400-79757600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
37	chr7:79757400-79757600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
38	chr7:79757400-79757600	Enhancers	Brain Germinal Matrix	brain
39	chr7:79757400-79757800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
40	chr7:79757400-79758200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
41	chr7:79757400-79761400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr7:79757400-79761600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr7:79757400-79761600	Weak transcription	HMEC	breast

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