Variant report

Variant	rs12822242
Chromosome Location	chr12:4422562-4422563
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:4414860..4423327-chr12:4428041..4432333,17	MCF-7	breast:
2	chr12:4416457..4418459-chr12:4421459..4423727,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000078237	Chromatin interaction

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

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

rs_ID	r²[population]
rs10774216	0.89[EUR][1000 genomes]
rs10849036	0.84[EUR][1000 genomes]
rs11063076	0.81[AMR][1000 genomes]
rs11063077	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4332594	0.82[AMR][1000 genomes];0.82[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	nsv530520	chr12:3726841-4601757	Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv832317	chr12:4315298-4435615	Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4413200-4429200	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr12:4413200-4429800	Weak transcription	Spleen	Spleen
3	chr12:4413800-4427000	Weak transcription	HSMMtube	muscle
4	chr12:4414800-4429400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr12:4415000-4429400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr12:4415200-4429600	Weak transcription	Aorta	Aorta
7	chr12:4416200-4429400	Weak transcription	Primary B cells from peripheral blood	blood
8	chr12:4416400-4429400	Weak transcription	Primary B cells from cord blood	blood
9	chr12:4416400-4429400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr12:4417000-4429600	Weak transcription	Esophagus	oesophagus
11	chr12:4417400-4423600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:4417400-4429400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr12:4417400-4429400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr12:4417400-4429600	Weak transcription	Pancreas	Pancrea
15	chr12:4417400-4429600	Weak transcription	HSMM	muscle
16	chr12:4417600-4423600	Strong transcription	Fetal Stomach	stomach
17	chr12:4417600-4425200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr12:4417600-4425400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr12:4417600-4429400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr12:4417600-4429400	Weak transcription	Adipose Nuclei	Adipose
21	chr12:4417600-4429400	Weak transcription	Brain Angular Gyrus	brain
22	chr12:4417600-4429400	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr12:4417600-4429600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr12:4417800-4423600	Strong transcription	Cortex derived primary cultured neurospheres	brain
25	chr12:4417800-4427600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr12:4417800-4429400	Weak transcription	Duodenum Mucosa	Duodenum
27	chr12:4417800-4429400	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr12:4417800-4429600	Weak transcription	Fetal Thymus	thymus
29	chr12:4417800-4429600	Weak transcription	Small Intestine	intestine
30	chr12:4418000-4423800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr12:4418000-4427000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr12:4418000-4429400	Weak transcription	Colon Smooth Muscle	Colon
33	chr12:4418000-4429400	Weak transcription	Fetal Intestine Large	intestine
34	chr12:4418000-4429400	Weak transcription	Stomach Smooth Muscle	stomach
35	chr12:4418200-4428800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr12:4418200-4429600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr12:4418400-4429400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr12:4418400-4429400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr12:4418600-4429400	Weak transcription	HMEC	breast
40	chr12:4418600-4429600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr12:4418600-4429600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr12:4418800-4429400	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr12:4418800-4429400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr12:4419000-4429600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr12:4419200-4429400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr12:4419200-4429400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr12:4419200-4429600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr12:4419400-4428800	Weak transcription	Placenta	Placenta
49	chr12:4419400-4429400	Weak transcription	Primary hematopoietic stem cells	blood
50	chr12:4419400-4429400	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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