Variant report

Variant	rs6427176
Chromosome Location	chr1:169070736-169070737
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:169064466..169066505-chr1:169069243..169071923,2	MCF-7	breast:
2	chr1:169053133..169065213-chr1:169070028..169077898,15	MCF-7	breast:

Variant related genes	Relation type
ENSG00000203601	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1892091	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2051145	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2051146	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs926517	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869415	chr1:168467284-169153863	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
2	esv3522071	chr1:168978325-169339044	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	esv3522072	chr1:168978325-169339044	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	nsv831858	chr1:169022383-169179068	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	esv10418	chr1:169059628-169621268	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 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	chr1:169064800-169071600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:169067600-169071800	Enhancers	Brain Angular Gyrus	brain
3	chr1:169067800-169071200	Enhancers	Stomach Mucosa	stomach
4	chr1:169067800-169071600	Enhancers	Brain Substantia Nigra	brain
5	chr1:169068000-169070800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr1:169068000-169074600	Enhancers	Fetal Heart	heart
7	chr1:169068200-169071200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr1:169068400-169071600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:169068800-169072400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:169068800-169074600	Enhancers	Fetal Intestine Large	intestine
11	chr1:169068800-169074600	Enhancers	Fetal Intestine Small	intestine
12	chr1:169069000-169072400	Weak transcription	Fetal Kidney	kidney
13	chr1:169069000-169072800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr1:169069200-169074400	Enhancers	HepG2	liver
15	chr1:169069400-169070800	Enhancers	Liver	Liver
16	chr1:169069400-169071000	Enhancers	Colonic Mucosa	Colon
17	chr1:169069400-169071400	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr1:169069400-169071600	Enhancers	Brain Cingulate Gyrus	brain
19	chr1:169069400-169071600	Enhancers	Brain Hippocampus Middle	brain
20	chr1:169069600-169071600	Enhancers	Sigmoid Colon	Sigmoid Colon
21	chr1:169069600-169071800	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr1:169069800-169071200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr1:169069800-169071600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr1:169069800-169071800	Weak transcription	Right Ventricle	heart
25	chr1:169070000-169070800	Weak transcription	Left Ventricle	heart
26	chr1:169070000-169071000	Active TSS	Rectal Mucosa Donor 29	rectum
27	chr1:169070000-169071200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr1:169070000-169071200	Weak transcription	Esophagus	oesophagus
29	chr1:169070000-169071600	Weak transcription	Right Atrium	heart
30	chr1:169070000-169071600	Weak transcription	Small Intestine	intestine
31	chr1:169070000-169073800	Weak transcription	Gastric	stomach
32	chr1:169070200-169071800	Weak transcription	Pancreas	Pancrea
33	chr1:169070400-169071800	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr1:169070400-169072800	Enhancers	Placenta Amnion	Placenta Amnion
35	chr1:169070400-169073000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr1:169070400-169073000	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr1:169070600-169070800	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr1:169070600-169070800	Active TSS	Duodenum Mucosa	Duodenum
39	chr1:169070600-169071600	Enhancers	Brain Anterior Caudate	brain
40	chr1:169070600-169072400	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr1:169070600-169072400	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr1:169070600-169074400	Enhancers	A549	lung
43	chr1:169070600-169074600	Weak transcription	Pancreatic Islets	Pancreatic Islet

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