Variant report

Variant	rs10845175
Chromosome Location	chr12:10743718-10743719
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	chr12:10738663..10741560-chr12:10743717..10745225,2	MCF-7	breast:
2	chr12:10743385..10746001-chr12:10752818..10754982,2	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10772312	0.82[ASN][1000 genomes]
rs10772315	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10772316	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10772317	0.80[ASN][1000 genomes]
rs10772324	0.80[ASN][1000 genomes]
rs10772329	0.89[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10845161	0.85[CHB][hapmap];0.90[JPT][hapmap];0.88[YRI][hapmap];0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10845165	0.81[ASN][1000 genomes]
rs10845166	0.80[ASN][1000 genomes]
rs10845174	0.81[ASN][1000 genomes]
rs11053857	0.84[CHB][hapmap];0.95[JPT][hapmap];0.88[YRI][hapmap];0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11053859	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11053865	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11053871	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11611202	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12423957	0.92[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2002156	0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2002157	0.90[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2125092	0.80[ASN][1000 genomes]
rs2125095	0.80[ASN][1000 genomes]
rs2417745	0.81[JPT][hapmap]
rs2417746	0.85[JPT][hapmap]
rs2607883	0.84[CHB][hapmap];0.85[JPT][hapmap];0.85[ASN][1000 genomes]
rs2607888	0.85[CHB][hapmap];0.85[JPT][hapmap];0.85[ASN][1000 genomes]
rs2607891	0.81[JPT][hapmap]
rs2607892	0.81[JPT][hapmap]
rs2607895	0.81[JPT][hapmap]
rs2607898	0.80[JPT][hapmap]
rs2682476	0.81[JPT][hapmap]
rs28403396	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs28701155	0.89[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs3816567	1.00[ASW][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs3867478	0.80[ASN][1000 genomes]
rs4237928	0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4476009	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4763528	0.80[ASN][1000 genomes]
rs4763531	0.80[ASN][1000 genomes]
rs4763532	0.80[ASN][1000 genomes]
rs4763547	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4763548	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4763555	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs55837119	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs58917785	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs60367665	0.93[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs61913124	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6488306	0.84[CHD][hapmap];0.95[JPT][hapmap]
rs7136964	0.82[ASN][1000 genomes]
rs7137465	0.81[ASN][1000 genomes]
rs7306724	0.81[ASN][1000 genomes]
rs7978850	1.00[ASW][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[ASN][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	nsv1039120	chr12:10675930-10755446	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv832329	chr12:10677094-10845946	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	esv999821	chr12:10742119-10749949	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs10845175	KLRC2	cis	cerebellum	SCAN
rs10845175	GDF3	cis	cerebellum	SCAN
rs10845175	KLRC3	cis	parietal	SCAN
rs10845175	OLR1	cis	cerebellum	SCAN
rs10845175	KLRC4	cis	cerebellum	SCAN
rs10845175	C1RL	cis	parietal	SCAN
rs10845175	MAGOHB	cis	parietal	SCAN

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10725600-10765000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr12:10725800-10753400	Weak transcription	Osteobl	bone
3	chr12:10725800-10761400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr12:10726400-10759800	Weak transcription	NHLF	lung
5	chr12:10726800-10756600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr12:10730000-10762000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr12:10730600-10764800	Weak transcription	Lung	lung
8	chr12:10730800-10746200	Weak transcription	Fetal Thymus	thymus
9	chr12:10730800-10758400	Weak transcription	NHEK	skin
10	chr12:10731200-10744000	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr12:10731200-10756400	Weak transcription	Primary B cells from peripheral blood	blood
12	chr12:10731400-10753200	Weak transcription	Primary B cells from cord blood	blood
13	chr12:10731600-10760800	Weak transcription	Fetal Brain Female	brain
14	chr12:10732000-10759600	Weak transcription	Fetal Intestine Large	intestine
15	chr12:10732000-10759800	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr12:10732200-10745800	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr12:10732200-10759600	Weak transcription	Left Ventricle	heart
18	chr12:10732200-10761400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr12:10732200-10764800	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr12:10732400-10759600	Weak transcription	Colon Smooth Muscle	Colon
21	chr12:10732400-10764200	Weak transcription	Pancreas	Pancrea
22	chr12:10732600-10759600	Weak transcription	HMEC	breast
23	chr12:10732800-10759600	Weak transcription	Brain Hippocampus Middle	brain
24	chr12:10733400-10743800	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr12:10733400-10746000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr12:10733400-10748000	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr12:10733400-10759600	Weak transcription	HUVEC	blood vessel
28	chr12:10733600-10744200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr12:10733600-10759800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr12:10733800-10743800	Weak transcription	Adipose Nuclei	Adipose
31	chr12:10733800-10753400	Weak transcription	Dnd41	blood
32	chr12:10733800-10760000	Weak transcription	Fetal Brain Male	brain
33	chr12:10734000-10747600	Weak transcription	Stomach Smooth Muscle	stomach
34	chr12:10734000-10753200	Weak transcription	Liver	Liver
35	chr12:10734000-10759400	Weak transcription	Fetal Lung	lung
36	chr12:10734000-10764000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr12:10734000-10764600	Weak transcription	Thymus	Thymus
38	chr12:10734200-10743800	Weak transcription	Aorta	Aorta
39	chr12:10734200-10743800	Weak transcription	GM12878-XiMat	blood
40	chr12:10734200-10749200	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr12:10734200-10755200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr12:10734200-10757400	Weak transcription	Fetal Muscle Trunk	muscle
43	chr12:10734200-10759400	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr12:10734200-10759400	Weak transcription	Duodenum Mucosa	Duodenum
45	chr12:10734200-10759400	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr12:10734200-10759600	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr12:10734200-10762200	Weak transcription	Fetal Muscle Leg	muscle
48	chr12:10734200-10764000	Weak transcription	Fetal Stomach	stomach
49	chr12:10734400-10743800	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr12:10734400-10753600	Weak transcription	Monocytes-CD14+_RO01746	blood

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