Variant report

Variant	rs7312783
Chromosome Location	chr12:56881051-56881052
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:56862344..56864045-chr12:56880136..56881879,2	MCF-7	breast:
2	chr12:56726722..56729321-chr12:56880761..56882422,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135473	Chromatin interaction
ENSG00000135517	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs10876891	0.86[EUR][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	nsv1043622	chr12:56571476-56974448	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
2	nsv541500	chr12:56571476-56974448	Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
3	nsv1052713	chr12:56848036-56917602	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	35 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7312783	RBMS2	Cis_1M	lymphoblastoid	RTeQTL
rs7312783	RBMS2	cis	multi-tissue	Pritchard
rs7312783	RBMS2	cis	Whole Blood	GTEx
rs7312783	FUT1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56863200-56881200	Weak transcription	Ovary	ovary
2	chr12:56863400-56881200	Weak transcription	Right Atrium	heart
3	chr12:56863400-56881400	Weak transcription	HSMMtube	muscle
4	chr12:56863800-56881200	Weak transcription	Colon Smooth Muscle	Colon
5	chr12:56863800-56881600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr12:56864200-56881200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr12:56865600-56881400	Weak transcription	Aorta	Aorta
8	chr12:56866000-56881200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:56866600-56881200	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr12:56866800-56881200	Weak transcription	Primary B cells from cord blood	blood
11	chr12:56867600-56881800	Weak transcription	A549	lung
12	chr12:56869000-56881600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:56872000-56881200	Weak transcription	Esophagus	oesophagus
14	chr12:56879800-56882600	Flanking Active TSS	Liver	Liver
15	chr12:56880200-56881200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr12:56880600-56881200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr12:56880800-56881200	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr12:56880800-56881200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr12:56880800-56881200	Bivalent Enhancer	Fetal Intestine Small	intestine
20	chr12:56880800-56881200	Enhancers	Gastric	stomach
21	chr12:56880800-56881200	Enhancers	Lung	lung
22	chr12:56880800-56881200	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr12:56880800-56881200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
24	chr12:56880800-56881200	Enhancers	Stomach Smooth Muscle	stomach
25	chr12:56880800-56881400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
26	chr12:56880800-56881400	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
27	chr12:56880800-56881400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
28	chr12:56880800-56881400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
29	chr12:56880800-56881400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
30	chr12:56880800-56881400	Active TSS	Pancreas	Pancrea
31	chr12:56880800-56881400	Enhancers	Spleen	Spleen
32	chr12:56880800-56881400	Flanking Active TSS	HepG2	liver
33	chr12:56880800-56881600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr12:56880800-56881600	Flanking Active TSS	Brain Cingulate Gyrus	brain
35	chr12:56880800-56882600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
36	chr12:56880800-56882600	Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr12:56880800-56882800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
38	chr12:56880800-56882800	Active TSS	Brain Angular Gyrus	brain
39	chr12:56880800-56882800	Active TSS	Brain Substantia Nigra	brain
40	chr12:56881000-56881200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
41	chr12:56881000-56881200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr12:56881000-56881200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr12:56881000-56881200	Enhancers	Primary B cells from peripheral blood	blood
44	chr12:56881000-56881200	Bivalent/Poised TSS	Primary T cells from cord blood	blood
45	chr12:56881000-56881200	Active TSS	Primary T helper cells PMA-I stimulated	--
46	chr12:56881000-56881200	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr12:56881000-56881200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
48	chr12:56881000-56881200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr12:56881000-56881200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr12:56881000-56881200	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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