Variant report

Variant	rs10845493
Chromosome Location	chr12:12332196-12332197
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	chr12:12329160..12332545-chr12:12419382..12422512,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000070018	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs11054700	0.83[AFR][1000 genomes]
rs11054719	1.00[MKK][hapmap]
rs12816278	0.84[CEU][hapmap];0.89[EUR][1000 genomes]
rs2287155	1.00[LWK][hapmap]
rs4763790	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv529005	chr12:12254756-12412795	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
3	esv3427115	chr12:12262415-12432411	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
4	nsv898806	chr12:12264471-12453808	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
5	nsv1050715	chr12:12293072-12383820	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10845493	HTR7P1	cis	parietal	SCAN
rs10845493	PRH1	cis	parietal	SCAN
rs10845493	LRP6	cis	parietal	SCAN

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12262400-12335600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr12:12269600-12343200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:12272200-12344600	Weak transcription	Primary B cells from cord blood	blood
4	chr12:12279800-12342800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr12:12281800-12335600	Weak transcription	Psoas Muscle	Psoas
6	chr12:12288200-12342800	Weak transcription	K562	blood
7	chr12:12302200-12338400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr12:12303800-12335600	Weak transcription	Right Ventricle	heart
9	chr12:12304000-12353000	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr12:12312000-12332600	Weak transcription	Dnd41	blood
11	chr12:12312000-12350600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr12:12312200-12334000	Weak transcription	Pancreas	Pancrea
13	chr12:12312200-12334600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr12:12312200-12338000	Weak transcription	Brain Germinal Matrix	brain
15	chr12:12312200-12355800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:12312200-12362000	Weak transcription	Hela-S3	cervix
17	chr12:12312400-12332400	Weak transcription	Primary hematopoietic stem cells	blood
18	chr12:12312400-12332600	Weak transcription	Fetal Thymus	thymus
19	chr12:12312800-12337600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr12:12314000-12333200	Weak transcription	NH-A	brain
21	chr12:12314000-12335600	Weak transcription	Stomach Smooth Muscle	stomach
22	chr12:12314000-12336000	Weak transcription	Adipose Nuclei	Adipose
23	chr12:12314400-12336000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr12:12315400-12334000	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr12:12315400-12340200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr12:12315400-12371600	Weak transcription	Lung	lung
27	chr12:12316200-12332400	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr12:12317400-12332400	Weak transcription	Fetal Muscle Leg	muscle
29	chr12:12317600-12332800	Weak transcription	Fetal Muscle Trunk	muscle
30	chr12:12317600-12335600	Weak transcription	Fetal Stomach	stomach
31	chr12:12317800-12335400	Weak transcription	Fetal Kidney	kidney
32	chr12:12318200-12335600	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr12:12318200-12335600	Weak transcription	Left Ventricle	heart
34	chr12:12318200-12335600	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr12:12318400-12334000	Weak transcription	Brain Substantia Nigra	brain
36	chr12:12322000-12334200	Weak transcription	Gastric	stomach
37	chr12:12325400-12334000	Weak transcription	NHLF	lung
38	chr12:12325400-12335800	Weak transcription	Osteobl	bone
39	chr12:12325400-12360000	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr12:12325600-12332200	Weak transcription	HepG2	liver
41	chr12:12325600-12332600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr12:12325600-12335000	Weak transcription	Brain Cingulate Gyrus	brain
43	chr12:12325800-12332400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr12:12325800-12334000	Weak transcription	Fetal Heart	heart
45	chr12:12325800-12334200	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr12:12325800-12335600	Weak transcription	Fetal Brain Female	brain
47	chr12:12325800-12335600	Weak transcription	Rectal Smooth Muscle	rectum
48	chr12:12325800-12341000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr12:12326000-12333800	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr12:12326200-12333800	Weak transcription	HSMMtube	muscle

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