Variant report

Variant	rs7307556
Chromosome Location	chr12:4631329-4631330
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:4630575..4632650-chr12:4639446..4641631,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs34810644	1.00[AMR][1000 genomes]
rs59185867	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61064582	1.00[AMR][1000 genomes]
rs7315154	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74059626	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74061920	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs74061922	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs74061948	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs74061951	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs74061956	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7955496	1.00[AMR][1000 genomes]
rs7958840	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7968517	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv557123	chr12:4436632-4736569	Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1038332	chr12:4627992-4689300	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv541362	chr12:4627992-4689300	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4592400-4647200	Weak transcription	Esophagus	oesophagus
2	chr12:4594400-4646400	Weak transcription	NHLF	lung
3	chr12:4594800-4647000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr12:4596000-4647200	Weak transcription	Small Intestine	intestine
5	chr12:4596600-4633400	Weak transcription	Hela-S3	cervix
6	chr12:4596600-4640400	Weak transcription	Brain Angular Gyrus	brain
7	chr12:4598200-4647000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr12:4598400-4646800	Weak transcription	Fetal Brain Male	brain
9	chr12:4599200-4647200	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr12:4606200-4647200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr12:4608200-4647200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:4609000-4633400	Weak transcription	Brain Cingulate Gyrus	brain
13	chr12:4609600-4640400	Weak transcription	Fetal Kidney	kidney
14	chr12:4609600-4642400	Weak transcription	Brain Substantia Nigra	brain
15	chr12:4609800-4640800	Weak transcription	Fetal Brain Female	brain
16	chr12:4610800-4647200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr12:4611200-4647000	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr12:4615000-4633200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr12:4615000-4642200	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr12:4615000-4646400	Weak transcription	Fetal Heart	heart
21	chr12:4616400-4634600	Weak transcription	Primary hematopoietic stem cells	blood
22	chr12:4616400-4640600	Weak transcription	HSMMtube	muscle
23	chr12:4616400-4646000	Weak transcription	HepG2	liver
24	chr12:4617000-4633600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr12:4617000-4639800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr12:4617000-4646600	Weak transcription	NHEK	skin
27	chr12:4617400-4631600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr12:4617600-4631400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr12:4617600-4639800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr12:4624400-4645400	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr12:4624400-4646400	Weak transcription	K562	blood
32	chr12:4624600-4635200	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr12:4624600-4636000	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr12:4625000-4635600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr12:4626400-4631400	Weak transcription	Brain Hippocampus Middle	brain
36	chr12:4626400-4633200	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr12:4626400-4634000	Weak transcription	GM12878-XiMat	blood
38	chr12:4626400-4640800	Weak transcription	Pancreas	Pancrea
39	chr12:4626400-4641000	Weak transcription	Psoas Muscle	Psoas
40	chr12:4626800-4631600	Weak transcription	Placenta	Placenta
41	chr12:4627400-4633400	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr12:4627600-4631600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr12:4627600-4633400	Weak transcription	NH-A	brain
44	chr12:4627600-4638400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr12:4627600-4640400	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr12:4627600-4645600	Weak transcription	HMEC	breast
47	chr12:4627600-4646600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr12:4627800-4633800	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr12:4627800-4633800	Weak transcription	Osteobl	bone
50	chr12:4628200-4632000	Strong transcription	Primary T cells from cord blood	blood

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