Variant report

Variant	rs73181818
Chromosome Location	chr12:105633795-105633796
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:105500608..105502385-chr12:105631430..105634044,2	K562	blood:
2	chr12:105631933..105633893-chr12:105636355..105638544,2	K562	blood:
3	chr12:105628535..105631470-chr12:105631945..105633798,3	K562	blood:
4	chr12:105632034..105634612-chr12:105649228..105651077,2	MCF-7	breast:
5	chr12:105628928..105631591-chr12:105632421..105636831,6	MCF-7	breast:
6	chr12:105628535..105631488-chr12:105632035..105634749,3	K562	blood:

Variant related genes	Relation type
ENSG00000136051	Chromatin interaction
ENSG00000235162	Chromatin interaction
ENSG00000257999	Chromatin interaction
ENSG00000136044	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10161513	1.00[ASN][1000 genomes]
rs11112410	1.00[ASN][1000 genomes]
rs11112452	1.00[ASN][1000 genomes]
rs11112522	1.00[ASN][1000 genomes]
rs11112526	1.00[ASN][1000 genomes]
rs12299366	1.00[ASN][1000 genomes]
rs12299391	1.00[ASN][1000 genomes]
rs12301914	1.00[ASN][1000 genomes]
rs12304384	1.00[ASN][1000 genomes]
rs12305766	1.00[ASN][1000 genomes]
rs12311156	1.00[ASN][1000 genomes]
rs12317637	1.00[ASN][1000 genomes]
rs12317804	1.00[ASN][1000 genomes]
rs12321199	1.00[ASN][1000 genomes]
rs12321518	1.00[ASN][1000 genomes]
rs12424095	1.00[ASN][1000 genomes]
rs12424191	1.00[ASN][1000 genomes]
rs12424709	1.00[ASN][1000 genomes]
rs17037098	1.00[ASN][1000 genomes]
rs58780154	1.00[ASN][1000 genomes]
rs59320697	1.00[ASN][1000 genomes]
rs59593474	1.00[ASN][1000 genomes]
rs60999193	1.00[ASN][1000 genomes]
rs7132816	1.00[ASN][1000 genomes]
rs7133728	1.00[ASN][1000 genomes]
rs7136270	1.00[ASN][1000 genomes]
rs7136306	1.00[ASN][1000 genomes]
rs7300130	1.00[ASN][1000 genomes]
rs7302842	1.00[ASN][1000 genomes]
rs7305406	1.00[ASN][1000 genomes]
rs7306679	1.00[ASN][1000 genomes]
rs73181810	1.00[ASN][1000 genomes]
rs73181822	1.00[ASN][1000 genomes]
rs73181825	1.00[ASN][1000 genomes]
rs73181843	1.00[ASN][1000 genomes]
rs73181852	1.00[ASN][1000 genomes]
rs73181856	1.00[ASN][1000 genomes]
rs73181857	1.00[ASN][1000 genomes]
rs73181869	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7971630	1.00[ASN][1000 genomes]
rs7975115	1.00[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	nsv832506	chr12:105461274-105637561	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
2	nsv455704	chr12:105583877-105651356	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
3	nsv560053	chr12:105583877-105651356	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
4	nsv899499	chr12:105616297-105722529	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105630600-105633800	Weak transcription	Primary T cells from cord blood	blood
2	chr12:105630600-105634000	Weak transcription	Primary B cells from cord blood	blood
3	chr12:105630800-105633800	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr12:105630800-105633800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr12:105630800-105633800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr12:105630800-105633800	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr12:105630800-105634200	Weak transcription	Primary hematopoietic stem cells	blood
8	chr12:105630800-105634200	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr12:105630800-105634400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr12:105630800-105639000	Weak transcription	Pancreas	Pancrea
11	chr12:105630800-105639000	Weak transcription	NHLF	lung
12	chr12:105632200-105633800	Enhancers	HepG2	liver
13	chr12:105632400-105638800	Weak transcription	NHDF-Ad	bronchial
14	chr12:105632600-105633800	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr12:105632800-105633800	Enhancers	Duodenum Mucosa	Duodenum
16	chr12:105632800-105633800	Enhancers	Osteobl	bone
17	chr12:105632800-105634400	Enhancers	Stomach Mucosa	stomach
18	chr12:105633000-105633800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr12:105633000-105633800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr12:105633200-105633800	Enhancers	Gastric	stomach
21	chr12:105633400-105635000	Enhancers	Primary B cells from peripheral blood	blood
22	chr12:105633400-105635200	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr12:105633600-105633800	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr12:105633600-105634400	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr12:105633600-105634400	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr12:105633600-105634600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr12:105633600-105635200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr12:105633600-105635200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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