Variant report

Variant	rs12756470
Chromosome Location	chr1:161730198-161730199
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:161729973..161732508-chr1:161735100..161737399,2	K562	blood:
2	chr1:161717547..161721793-chr1:161722241..161732156,16	K562	blood:
3	chr1:161725261..161728116-chr1:161728492..161730650,2	MCF-7	breast:
4	chr1:161718595..161726705-chr1:161728119..161739561,22	MCF-7	breast:

Variant related genes	Relation type
ENSG00000118217	Chromatin interaction
ENSG00000226889	Chromatin interaction
ENSG00000081721	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs34461550	0.95[EUR][1000 genomes]
rs35621393	0.95[EUR][1000 genomes]
rs35699192	0.95[EUR][1000 genomes]
rs35801335	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs6701754	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs71634908	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs71634909	0.87[ASN][1000 genomes]
rs9787369	0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428257	chr1:161406315-161868263	Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	esv33393	chr1:161478681-162080327	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	nsv464184	chr1:161646807-161885352	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS 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	36 gene(s)	inside rSNPs	diseases
4	nsv548075	chr1:161646807-161885352	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161720400-161734600	Weak transcription	Aorta	Aorta
2	chr1:161720600-161734600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:161720600-161734800	Weak transcription	Psoas Muscle	Psoas
4	chr1:161720600-161736000	Weak transcription	Spleen	Spleen
5	chr1:161720800-161734600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr1:161720800-161735000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr1:161720800-161735000	Weak transcription	Stomach Mucosa	stomach
8	chr1:161721000-161734600	Weak transcription	Right Ventricle	heart
9	chr1:161721000-161734600	Weak transcription	HSMMtube	muscle
10	chr1:161721000-161735000	Weak transcription	Fetal Heart	heart
11	chr1:161721200-161731000	Weak transcription	Right Atrium	heart
12	chr1:161721200-161732200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr1:161721200-161733800	Weak transcription	Pancreas	Pancrea
14	chr1:161721200-161734600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr1:161721200-161734800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr1:161721800-161730200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr1:161722000-161730400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr1:161723200-161734800	Weak transcription	Colonic Mucosa	Colon
19	chr1:161723400-161730600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr1:161723400-161736000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr1:161724200-161735000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr1:161724600-161734600	Weak transcription	Rectal Smooth Muscle	rectum
23	chr1:161724600-161734800	Weak transcription	Thymus	Thymus
24	chr1:161724600-161735000	Weak transcription	Fetal Brain Male	brain
25	chr1:161724600-161736000	Weak transcription	Small Intestine	intestine
26	chr1:161724800-161734600	Weak transcription	NHLF	lung
27	chr1:161724800-161736000	Weak transcription	Gastric	stomach
28	chr1:161725400-161733400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr1:161725400-161735000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr1:161725600-161733400	Weak transcription	HepG2	liver
31	chr1:161726000-161733600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr1:161726000-161734600	Weak transcription	Fetal Kidney	kidney
33	chr1:161726000-161735800	Weak transcription	Esophagus	oesophagus
34	chr1:161726600-161734600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr1:161726800-161733200	Weak transcription	K562	blood
36	chr1:161726800-161734600	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr1:161726800-161734600	Weak transcription	NHEK	skin
38	chr1:161726800-161734800	Weak transcription	Brain Hippocampus Middle	brain
39	chr1:161726800-161734800	Weak transcription	Colon Smooth Muscle	Colon
40	chr1:161726800-161734800	Weak transcription	Fetal Lung	lung
41	chr1:161726800-161735000	Weak transcription	Primary T cells from cord blood	blood
42	chr1:161726800-161735000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr1:161726800-161735800	Weak transcription	Lung	lung
44	chr1:161727000-161734600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr1:161727000-161734600	Weak transcription	Stomach Smooth Muscle	stomach
46	chr1:161727000-161735000	Weak transcription	Brain Substantia Nigra	brain
47	chr1:161727200-161734800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr1:161727200-161735000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr1:161727400-161733200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr1:161727400-161733200	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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