Variant report

Variant	rs12130299
Chromosome Location	chr1:161731705-161731706
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:161718558..161723568-chr1:161731521..161737462,16	K562	blood:
2	chr1:161729973..161732508-chr1:161735100..161737399,2	K562	blood:
3	chr1:161717547..161721793-chr1:161722241..161732156,16	K562	blood:
4	chr1:161727932..161729878-chr1:161731559..161734430,3	K562	blood:
5	chr1:161730263..161732207-chr1:161749033..161750676,2	K562	blood:
6	chr1:161718595..161726705-chr1:161728119..161739561,22	MCF-7	breast:

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

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

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1027700	0.83[ASN][1000 genomes]
rs1058405	0.83[ASN][1000 genomes]
rs10917821	0.81[CHB][hapmap]
rs11576878	0.84[ASN][1000 genomes]
rs11581556	0.81[ASN][1000 genomes]
rs12121310	0.86[CHB][hapmap]
rs3767634	0.81[ASN][1000 genomes]
rs3820449	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4657106	0.84[ASN][1000 genomes]
rs61801240	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61802507	0.81[ASN][1000 genomes]
rs7414603	0.80[ASN][1000 genomes]
rs7529356	0.81[ASN][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:125 , 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	chr1:161721200-161732200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr1:161721200-161733800	Weak transcription	Pancreas	Pancrea
13	chr1:161721200-161734600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr1:161721200-161734800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr1:161723200-161734800	Weak transcription	Colonic Mucosa	Colon
16	chr1:161723400-161736000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr1:161724200-161735000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr1:161724600-161734600	Weak transcription	Rectal Smooth Muscle	rectum
19	chr1:161724600-161734800	Weak transcription	Thymus	Thymus
20	chr1:161724600-161735000	Weak transcription	Fetal Brain Male	brain
21	chr1:161724600-161736000	Weak transcription	Small Intestine	intestine
22	chr1:161724800-161734600	Weak transcription	NHLF	lung
23	chr1:161724800-161736000	Weak transcription	Gastric	stomach
24	chr1:161725400-161733400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr1:161725400-161735000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr1:161725600-161733400	Weak transcription	HepG2	liver
27	chr1:161726000-161733600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr1:161726000-161734600	Weak transcription	Fetal Kidney	kidney
29	chr1:161726000-161735800	Weak transcription	Esophagus	oesophagus
30	chr1:161726600-161734600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr1:161726800-161733200	Weak transcription	K562	blood
32	chr1:161726800-161734600	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr1:161726800-161734600	Weak transcription	NHEK	skin
34	chr1:161726800-161734800	Weak transcription	Brain Hippocampus Middle	brain
35	chr1:161726800-161734800	Weak transcription	Colon Smooth Muscle	Colon
36	chr1:161726800-161734800	Weak transcription	Fetal Lung	lung
37	chr1:161726800-161735000	Weak transcription	Primary T cells from cord blood	blood
38	chr1:161726800-161735000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr1:161726800-161735800	Weak transcription	Lung	lung
40	chr1:161727000-161734600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr1:161727000-161734600	Weak transcription	Stomach Smooth Muscle	stomach
42	chr1:161727000-161735000	Weak transcription	Brain Substantia Nigra	brain
43	chr1:161727200-161734800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr1:161727200-161735000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr1:161727400-161733200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr1:161727400-161733200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr1:161727400-161733400	Weak transcription	A549	lung
48	chr1:161727400-161734400	Weak transcription	Primary B cells from cord blood	blood
49	chr1:161727400-161735000	Weak transcription	Brain Angular Gyrus	brain
50	chr1:161727400-161735000	Weak transcription	Brain Cingulate Gyrus	brain

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