Variant report

Variant	rs73405900
Chromosome Location	chr12:122938310-122938311
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:122905298..122908189-chr12:122936931..122940541,4	K562	blood:

Variant related genes	Relation type
ENSG00000130779	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs59638725	0.89[AMR][1000 genomes]
rs60239792	1.00[EUR][1000 genomes]
rs7134462	0.89[AMR][1000 genomes]
rs73405849	0.89[AMR][1000 genomes]
rs73405864	0.89[AMR][1000 genomes]
rs73407808	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv973945	chr12:122923254-122958354	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122922800-122960400	Weak transcription	Right Atrium	heart
2	chr12:122931800-122938400	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr12:122934400-122938400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr12:122934600-122938400	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr12:122934600-122938400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr12:122934600-122938400	Weak transcription	NHEK	skin
7	chr12:122934600-122938600	Weak transcription	A549	lung
8	chr12:122934600-122938600	Weak transcription	HMEC	breast
9	chr12:122934800-122938400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr12:122934800-122942800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr12:122935400-122943800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr12:122936600-122939200	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr12:122936600-122939200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr12:122936600-122939800	Enhancers	Primary T cells fromperipheralblood	blood
15	chr12:122936800-122939000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr12:122936800-122939200	Enhancers	Primary T cells from cord blood	blood
17	chr12:122937000-122938800	Enhancers	GM12878-XiMat	blood
18	chr12:122937000-122939000	Enhancers	Primary B cells from cord blood	blood
19	chr12:122937200-122938800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
20	chr12:122937200-122938800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr12:122937200-122939000	Enhancers	Primary B cells from peripheral blood	blood
22	chr12:122937200-122939000	Enhancers	Primary hematopoietic stem cells	blood
23	chr12:122937200-122939000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr12:122937200-122939000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr12:122937200-122939000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr12:122937200-122939200	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr12:122937200-122939600	Enhancers	Fetal Thymus	thymus
28	chr12:122937400-122938400	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr12:122937400-122938800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
30	chr12:122937400-122938800	Enhancers	Small Intestine	intestine
31	chr12:122937400-122939000	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr12:122937400-122939000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr12:122937400-122939000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr12:122937400-122939000	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr12:122937400-122939800	Enhancers	Duodenum Mucosa	Duodenum
36	chr12:122937600-122938400	Enhancers	Rectal Mucosa Donor 29	rectum
37	chr12:122937600-122938800	Enhancers	Thymus	Thymus
38	chr12:122937600-122939000	Enhancers	Spleen	Spleen
39	chr12:122937800-122939200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
40	chr12:122937800-122939200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
41	chr12:122937800-122939200	Enhancers	Dnd41	blood
42	chr12:122937800-122939200	Enhancers	Hela-S3	cervix
43	chr12:122938000-122938600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr12:122938000-122939000	Enhancers	Placenta	Placenta
45	chr12:122938200-122938400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
46	chr12:122938200-122938400	Enhancers	HepG2	liver
47	chr12:122938200-122938600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
48	chr12:122938200-122938600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
49	chr12:122938200-122938600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
50	chr12:122938200-122938800	Enhancers	Fetal Intestine Large	intestine

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