Variant report

Variant	rs6704290
Chromosome Location	chr1:175099574-175099575
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:174967738..174969633-chr1:175098002..175100021,2	MCF-7	breast:
2	chr1:174998987..174999569-chr1:175099097..175100136,3	MCF-7	breast:
3	chr1:174992345..174994301-chr1:175097366..175099621,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000120333	Chromatin interaction
ENSG00000116161	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10798335	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10912891	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10912892	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10912893	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2213875	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6670979	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7526772	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7529212	0.89[EUR][1000 genomes];0.98[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	nsv825487	chr1:175031609-175113572	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv508648	chr1:175056387-175121913	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175086400-175099600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:175094000-175100000	Enhancers	Liver	Liver
3	chr1:175095600-175099600	Enhancers	Fetal Lung	lung
4	chr1:175095600-175099800	Enhancers	Placenta	Placenta
5	chr1:175095600-175099800	Enhancers	Right Atrium	heart
6	chr1:175095600-175100400	Enhancers	Fetal Stomach	stomach
7	chr1:175095800-175102600	Enhancers	Stomach Smooth Muscle	stomach
8	chr1:175096400-175102600	Enhancers	Colon Smooth Muscle	Colon
9	chr1:175096600-175099800	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr1:175096800-175100000	Enhancers	Fetal Muscle Leg	muscle
11	chr1:175097000-175100000	Enhancers	Adipose Nuclei	Adipose
12	chr1:175097200-175103000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:175097400-175099800	Enhancers	Duodenum Smooth Muscle	Duodenum
14	chr1:175097400-175099800	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr1:175097800-175099800	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr1:175097800-175099800	Enhancers	Fetal Intestine Small	intestine
17	chr1:175097800-175103400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr1:175098000-175101000	Weak transcription	Right Ventricle	heart
19	chr1:175098000-175101200	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr1:175098000-175101200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr1:175098200-175099800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr1:175098200-175100400	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr1:175098400-175099600	Enhancers	GM12878-XiMat	blood
24	chr1:175098400-175100600	Enhancers	H1 Cell Line	embryonic stem cell
25	chr1:175098400-175101600	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr1:175098400-175102000	Enhancers	H9 Cell Line	embryonic stem cell
27	chr1:175098400-175102000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr1:175098400-175102000	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr1:175098600-175099800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr1:175098600-175099800	Enhancers	Lung	lung
31	chr1:175098600-175100000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr1:175098600-175100200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr1:175098600-175100200	Enhancers	Small Intestine	intestine
34	chr1:175098600-175100400	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr1:175098600-175101600	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr1:175098800-175099800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr1:175098800-175099800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr1:175098800-175099800	Enhancers	Fetal Intestine Large	intestine
39	chr1:175098800-175100000	Enhancers	Duodenum Mucosa	Duodenum
40	chr1:175098800-175100400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr1:175098800-175101400	Weak transcription	HMEC	breast
42	chr1:175099000-175099600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr1:175099000-175099800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr1:175099000-175099800	Enhancers	Dnd41	blood
45	chr1:175099200-175099800	Enhancers	Brain Substantia Nigra	brain
46	chr1:175099200-175100000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr1:175099200-175101200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr1:175099200-175101600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr1:175099200-175102800	Weak transcription	Stomach Mucosa	stomach
50	chr1:175099200-175103200	Enhancers	Rectal Smooth Muscle	rectum

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