Variant report

Variant	rs72550772
Chromosome Location	chr12:12045933-12045934
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:12043911..12046841-chr12:12047911..12050506,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11054440	1.00[AMR][1000 genomes]
rs12302332	1.00[AMR][1000 genomes]
rs12318734	1.00[AMR][1000 genomes]
rs13377739	1.00[AMR][1000 genomes]
rs59746341	1.00[AMR][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	nsv832331	chr12:11925095-12114451	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv949003	chr12:11938229-12618690	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12026000-12051800	Weak transcription	Fetal Brain Male	brain
2	chr12:12030000-12054800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr12:12030800-12054400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr12:12031200-12049600	Weak transcription	Brain Germinal Matrix	brain
5	chr12:12031400-12050400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr12:12031600-12049600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr12:12031600-12050200	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr12:12031800-12047000	Weak transcription	Brain Substantia Nigra	brain
9	chr12:12031800-12050400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr12:12032000-12047600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr12:12032600-12047200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr12:12035600-12046200	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr12:12035800-12047000	Strong transcription	Primary T cells fromperipheralblood	blood
14	chr12:12036000-12059200	Weak transcription	NHLF	lung
15	chr12:12036600-12046600	Strong transcription	Primary T cells from cord blood	blood
16	chr12:12036600-12047400	Strong transcription	Cortex derived primary cultured neurospheres	brain
17	chr12:12036800-12046000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr12:12036800-12046200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr12:12037000-12048600	Strong transcription	Fetal Stomach	stomach
20	chr12:12037800-12047800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr12:12037800-12054800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr12:12038200-12046400	Weak transcription	Fetal Brain Female	brain
23	chr12:12038200-12048600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr12:12038600-12046400	Weak transcription	Brain Hippocampus Middle	brain
25	chr12:12038600-12047000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:12038600-12048400	Weak transcription	Hela-S3	cervix
27	chr12:12038600-12049200	Weak transcription	Brain Anterior Caudate	brain
28	chr12:12038800-12047600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr12:12038800-12048000	Strong transcription	Duodenum Mucosa	Duodenum
30	chr12:12038800-12054400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr12:12039000-12046600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr12:12039000-12047200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr12:12039000-12047800	Strong transcription	Fetal Intestine Large	intestine
34	chr12:12039200-12047600	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr12:12039200-12048600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr12:12039200-12048800	Weak transcription	Small Intestine	intestine
37	chr12:12039400-12046000	Strong transcription	Fetal Intestine Small	intestine
38	chr12:12039400-12047800	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr12:12039400-12048400	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr12:12039800-12047600	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr12:12039800-12049400	Weak transcription	Stomach Mucosa	stomach
42	chr12:12040800-12048000	Strong transcription	Sigmoid Colon	Sigmoid Colon
43	chr12:12041000-12048200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr12:12041200-12047000	Weak transcription	Aorta	Aorta
45	chr12:12041200-12047400	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr12:12041200-12048000	Strong transcription	Stomach Smooth Muscle	stomach
47	chr12:12041400-12047600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr12:12041400-12049400	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr12:12041400-12049600	Weak transcription	Fetal Kidney	kidney
50	chr12:12041400-12057200	Weak transcription	HMEC	breast

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