Variant report

Variant	rs17444103
Chromosome Location	chr12:40721159-40721160
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	12:40716064-40722905..12:40793507-40812339	GM12878	blood:
2	chr12:40715339..40716976-chr12:40720060..40722353,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000205592	Chromatin interaction

rs_ID	r²[population]
rs10506147	0.80[EUR][1000 genomes]
rs10506154	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs11175593	0.80[EUR][1000 genomes]
rs11564107	0.80[EUR][1000 genomes]
rs11564113	1.00[JPT][hapmap]
rs11564145	1.00[CEU][hapmap]
rs11564152	1.00[CEU][hapmap]
rs11564153	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs11564185	1.00[CEU][hapmap]
rs11564187	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs11564209	1.00[CEU][hapmap]
rs11564210	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs11564212	0.80[EUR][1000 genomes]
rs11564253	1.00[CEU][hapmap]
rs11564255	1.00[CEU][hapmap]
rs11564256	1.00[CEU][hapmap]
rs11564266	1.00[CEU][hapmap]
rs11564271	1.00[CEU][hapmap]
rs11613829	1.00[JPT][hapmap]
rs12422390	1.00[CEU][hapmap]
rs12422544	1.00[CEU][hapmap]
rs12422796	1.00[CEU][hapmap]
rs12423986	1.00[CEU][hapmap]
rs12424424	1.00[CEU][hapmap]
rs12425677	1.00[CEU][hapmap]
rs12425678	1.00[CEU][hapmap]
rs12426639	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs12426903	1.00[CEU][hapmap]
rs12427134	1.00[CEU][hapmap]
rs12427245	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs1365768	1.00[CEU][hapmap]
rs1365769	1.00[CEU][hapmap]
rs1388585	1.00[CEU][hapmap]
rs1388597	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs1463717	1.00[CEU][hapmap]
rs17442882	1.00[JPT][hapmap]
rs17442924	1.00[CEU][hapmap]
rs17443185	1.00[CEU][hapmap]
rs17443206	1.00[CEU][hapmap]
rs17443421	1.00[JPT][hapmap]
rs17443552	1.00[JPT][hapmap]
rs17443600	1.00[CEU][hapmap]
rs17443656	1.00[CEU][hapmap]
rs17443909	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17444028	0.87[EUR][1000 genomes]
rs17444054	0.87[EUR][1000 genomes]
rs17444542	1.00[JPT][hapmap]
rs17444646	1.00[CEU][hapmap]
rs17444667	1.00[CEU][hapmap]
rs17444688	1.00[CEU][hapmap]
rs17444744	1.00[CEU][hapmap]
rs17444751	1.00[CEU][hapmap]
rs17445098	1.00[CEU][hapmap]
rs17458745	1.00[JPT][hapmap]
rs17458773	1.00[JPT][hapmap]
rs17458974	1.00[JPT][hapmap]
rs17461575	0.80[EUR][1000 genomes]
rs17465610	0.80[EUR][1000 genomes]
rs17465716	1.00[JPT][hapmap]
rs17465849	1.00[JPT][hapmap]
rs17465891	1.00[JPT][hapmap]
rs17465946	0.80[EUR][1000 genomes]
rs17466016	1.00[CEU][hapmap]
rs17466030	1.00[JPT][hapmap]
rs17466220	1.00[JPT][hapmap]
rs17466269	1.00[JPT][hapmap]
rs17466297	1.00[JPT][hapmap]
rs17466339	1.00[JPT][hapmap]
rs17466451	1.00[JPT][hapmap]
rs17466626	1.00[CEU][hapmap]
rs17466633	1.00[JPT][hapmap]
rs17466907	1.00[CEU][hapmap]
rs17466969	1.00[CEU][hapmap]
rs17467039	1.00[CEU][hapmap]
rs17467081	1.00[CEU][hapmap]
rs17467088	1.00[CEU][hapmap]
rs17467102	1.00[CEU][hapmap]
rs17467116	1.00[CEU][hapmap]
rs17467137	1.00[CEU][hapmap]
rs17467144	1.00[CEU][hapmap]
rs17484342	0.87[EUR][1000 genomes]
rs17484493	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs17490013	1.00[JPT][hapmap]
rs17490578	1.00[JPT][hapmap]
rs17490620	1.00[JPT][hapmap]
rs17490762	1.00[JPT][hapmap]
rs17491110	1.00[JPT][hapmap]
rs17491410	1.00[JPT][hapmap]
rs17492138	1.00[JPT][hapmap]
rs17492152	1.00[CEU][hapmap]
rs17518735	1.00[JPT][hapmap]
rs17519797	1.00[JPT][hapmap]
rs17520634	1.00[JPT][hapmap]
rs17520655	1.00[JPT][hapmap]
rs2017917	1.00[CEU][hapmap]
rs28365202	1.00[JPT][hapmap]
rs28365229	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs28365243	1.00[JPT][hapmap]
rs33995883	0.86[EUR][1000 genomes]
rs3789329	1.00[CEU][hapmap]
rs3899331	1.00[CEU][hapmap]
rs4628750	1.00[CEU][hapmap]
rs4767965	0.80[EUR][1000 genomes]
rs4768226	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs4768228	0.87[EUR][1000 genomes]
rs4768248	1.00[CEU][hapmap]
rs4768249	1.00[CEU][hapmap]
rs4768251	1.00[CEU][hapmap]
rs4768254	1.00[CEU][hapmap]
rs72547977	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7485401	1.00[CEU][hapmap]
rs7487209	1.00[CEU][hapmap]

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044685	chr12:40574460-40771612	Enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv832377	chr12:40704881-40855223	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40640600-40727400	Weak transcription	Spleen	Spleen
2	chr12:40640600-40768200	Weak transcription	Pancreas	Pancrea
3	chr12:40656800-40746400	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr12:40674400-40760400	Weak transcription	Lung	lung
5	chr12:40681200-40763000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr12:40684000-40722600	Weak transcription	Colon Smooth Muscle	Colon
7	chr12:40684000-40722600	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr12:40684000-40725000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr12:40687200-40765000	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr12:40695800-40723600	Weak transcription	Brain Angular Gyrus	brain
11	chr12:40699600-40721800	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr12:40704400-40723800	Weak transcription	Brain Anterior Caudate	brain
13	chr12:40705600-40722400	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr12:40706800-40722800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr12:40707800-40724400	Strong transcription	Primary B cells from cord blood	blood
16	chr12:40709600-40721400	Weak transcription	Ovary	ovary
17	chr12:40709800-40721600	Weak transcription	Stomach Smooth Muscle	stomach
18	chr12:40709800-40722400	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr12:40710000-40721200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr12:40712000-40736600	Weak transcription	Left Ventricle	heart
21	chr12:40712000-40743400	Weak transcription	Aorta	Aorta
22	chr12:40712400-40721800	Weak transcription	Adipose Nuclei	Adipose
23	chr12:40714200-40759200	Weak transcription	Duodenum Mucosa	Duodenum
24	chr12:40716200-40722400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr12:40716800-40761600	Weak transcription	Fetal Kidney	kidney
26	chr12:40717800-40724600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr12:40718000-40721800	Weak transcription	Liver	Liver
28	chr12:40719200-40723800	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr12:40719600-40735200	Weak transcription	Brain Cingulate Gyrus	brain
30	chr12:40720400-40721400	Strong transcription	Primary B cells from peripheral blood	blood
31	chr12:40720600-40723800	Weak transcription	A549	lung
32	chr12:40721000-40734000	Weak transcription	Esophagus	oesophagus

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