Variant report

Variant	rs6661707
Chromosome Location	chr1:184460644-184460645
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	chr1:184455444..184457355-chr1:184458781..184460828,3	MCF-7	breast:
2	chr1:184429671..184432533-chr1:184459614..184461411,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10737253	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10797971	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10797972	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11588922	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1339563	0.80[ASN][1000 genomes]
rs1339564	0.80[ASN][1000 genomes]
rs1569842	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1884200	0.83[ASN][1000 genomes]
rs2001270	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2038307	0.86[ASN][1000 genomes]
rs2180077	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2207528	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2378888	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2890015	0.80[ASN][1000 genomes]
rs4650667	0.80[ASN][1000 genomes]
rs4651208	0.94[ASN][1000 genomes]
rs4651210	0.95[ASN][1000 genomes]
rs4651211	0.94[ASN][1000 genomes]
rs4651216	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55729410	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6666704	0.96[ASN][1000 genomes]
rs7517518	0.94[ASN][1000 genomes]
rs9970984	0.80[ASN][1000 genomes]
rs9970990	0.80[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	nsv530079	chr1:183797938-184639971	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	esv2756618	chr1:184393343-184674343	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184450200-184463200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:184451400-184463600	Weak transcription	Brain Cingulate Gyrus	brain
3	chr1:184454000-184461400	Weak transcription	Gastric	stomach
4	chr1:184454200-184461800	Weak transcription	Fetal Brain Male	brain
5	chr1:184455200-184482000	Weak transcription	Esophagus	oesophagus
6	chr1:184455800-184466200	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr1:184456200-184462800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr1:184456200-184464000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:184456400-184460800	Weak transcription	Fetal Lung	lung
10	chr1:184456400-184460800	Weak transcription	Lung	lung
11	chr1:184456400-184461400	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr1:184456400-184465200	Weak transcription	Fetal Brain Female	brain
13	chr1:184456400-184502200	Weak transcription	Fetal Muscle Trunk	muscle
14	chr1:184456600-184460800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr1:184456600-184472800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr1:184457200-184460800	Weak transcription	Fetal Stomach	stomach
17	chr1:184457200-184466000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr1:184457400-184468200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:184457600-184461000	Weak transcription	Brain Hippocampus Middle	brain
20	chr1:184458400-184463800	Enhancers	Fetal Intestine Small	intestine
21	chr1:184458600-184460800	Enhancers	Fetal Heart	heart
22	chr1:184458600-184460800	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr1:184458600-184461600	Enhancers	Small Intestine	intestine
24	chr1:184458600-184463800	Enhancers	Fetal Intestine Large	intestine
25	chr1:184458800-184463600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr1:184459000-184460800	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr1:184459000-184467000	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr1:184459200-184460800	Enhancers	Adipose Nuclei	Adipose
29	chr1:184459200-184461200	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr1:184459200-184461200	Enhancers	Stomach Mucosa	stomach
31	chr1:184459200-184462000	Enhancers	Colon Smooth Muscle	Colon
32	chr1:184459400-184461000	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr1:184459600-184461400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr1:184459600-184461400	Weak transcription	Pancreas	Pancrea
35	chr1:184459600-184462800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr1:184459600-184463000	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr1:184459600-184463000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr1:184459600-184463400	Weak transcription	Brain Anterior Caudate	brain
39	chr1:184459600-184463600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr1:184459600-184465200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr1:184459600-184466200	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr1:184459600-184483000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr1:184459800-184460800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr1:184459800-184460800	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr1:184459800-184463200	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr1:184460000-184461200	Enhancers	HMEC	breast
47	chr1:184460000-184465200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr1:184460200-184460800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr1:184460200-184461000	Enhancers	GM12878-XiMat	blood
50	chr1:184460200-184461200	Active TSS	A549	lung

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