Variant report

Variant	rs12131300
Chromosome Location	chr1:47021699-47021700
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:47015863..47022104-chr1:47022936..47029939,8	K562	blood:
2	chr1:47016937..47019617-chr1:47020733..47023343,2	K562	blood:
3	chr1:47020490..47024344-chr1:47028257..47029934,3	K562	blood:
4	chr1:47016121..47018633-chr1:47020104..47022596,4	K562	blood:

Variant related genes	Relation type
ENSG00000162456	Chromatin interaction
ENSG00000079277	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10890403	0.86[EUR][1000 genomes]
rs12142727	0.82[ASN][1000 genomes]
rs12145313	0.81[ASN][1000 genomes]
rs1923810	0.84[ASN][1000 genomes]
rs2146562	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs36045414	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4442318	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4660356	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2761743	chr1:46339858-47026743	Active TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1001455	chr1:46828004-47326539	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv534950	chr1:46828004-47326539	Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1000562	chr1:46832451-47027044	Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1015045	chr1:46910546-47067492	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv534952	chr1:46910546-47067492	Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	nsv1009193	chr1:46939999-47085667	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	nsv998422	chr1:46969626-47023671	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
9	nsv534953	chr1:46969626-47023671	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
10	nsv1009899	chr1:47007765-47062737	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
11	nsv534954	chr1:47007765-47062737	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
12	nsv1008246	chr1:47007844-47069845	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
13	nsv1011892	chr1:47010519-47067492	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:46999600-47035000	Weak transcription	Right Atrium	heart
2	chr1:47013800-47022000	Weak transcription	HMEC	breast
3	chr1:47014000-47026600	Weak transcription	Primary B cells from peripheral blood	blood
4	chr1:47015400-47024600	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr1:47015600-47024000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr1:47015600-47024200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr1:47015600-47025800	Weak transcription	Colon Smooth Muscle	Colon
8	chr1:47015800-47023400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr1:47015800-47023800	Weak transcription	Brain Cingulate Gyrus	brain
10	chr1:47015800-47023800	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr1:47015800-47024600	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr1:47015800-47026200	Weak transcription	Primary B cells from cord blood	blood
13	chr1:47015800-47041200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr1:47015800-47043400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr1:47016000-47023200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr1:47016000-47025200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr1:47016000-47025600	Weak transcription	Fetal Brain Female	brain
18	chr1:47016000-47027000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr1:47016000-47037400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr1:47016200-47026000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr1:47016200-47030400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr1:47016400-47023600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr1:47016400-47025600	Weak transcription	Brain Anterior Caudate	brain
24	chr1:47016600-47023400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr1:47016800-47034800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr1:47017600-47039800	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr1:47017800-47024200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr1:47018000-47022000	Weak transcription	Spleen	Spleen
29	chr1:47018400-47023000	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr1:47018600-47023200	Weak transcription	Fetal Muscle Leg	muscle
31	chr1:47018600-47023200	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr1:47018800-47022000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr1:47019000-47026200	Weak transcription	HepG2	liver
34	chr1:47019200-47023800	Weak transcription	Colonic Mucosa	Colon
35	chr1:47019200-47024200	Weak transcription	Duodenum Mucosa	Duodenum
36	chr1:47019400-47023200	Weak transcription	Fetal Thymus	thymus
37	chr1:47019400-47023200	Weak transcription	Stomach Smooth Muscle	stomach
38	chr1:47019400-47023400	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr1:47019400-47024200	Weak transcription	Brain Hippocampus Middle	brain
40	chr1:47019600-47032800	Weak transcription	Small Intestine	intestine
41	chr1:47019800-47022400	Weak transcription	Esophagus	oesophagus
42	chr1:47019800-47022400	Weak transcription	Lung	lung
43	chr1:47019800-47043600	Weak transcription	Dnd41	blood
44	chr1:47020000-47022600	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr1:47020000-47023200	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr1:47020200-47022600	Weak transcription	Liver	Liver
47	chr1:47020200-47023000	Weak transcription	Primary T cells from cord blood	blood
48	chr1:47020200-47023200	Weak transcription	Ovary	ovary
49	chr1:47020400-47022200	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr1:47020400-47023200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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