Variant report

Variant	rs61130413
Chromosome Location	chr12:12342594-12342595
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:12333575..12335738-chr12:12341960..12344629,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10431232	0.86[EUR][1000 genomes]
rs10431303	0.85[EUR][1000 genomes]
rs10743981	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1074992	0.85[EUR][1000 genomes]
rs1074993	0.85[EUR][1000 genomes]
rs10772544	0.83[EUR][1000 genomes]
rs10845498	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10845504	0.85[EUR][1000 genomes]
rs11054701	0.84[AFR][1000 genomes]
rs11054752	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1181333	0.98[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1468878	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1548958	0.85[EUR][1000 genomes]
rs16907786	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs16907810	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2075241	0.84[AFR][1000 genomes]
rs2160521	0.82[AFR][1000 genomes]
rs2160589	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2300231	0.85[AFR][1000 genomes]
rs2417090	0.83[EUR][1000 genomes]
rs4265667	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4494380	0.83[EUR][1000 genomes]
rs4619236	0.85[EUR][1000 genomes]
rs4763789	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7134001	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7136380	0.83[EUR][1000 genomes]
rs7295656	0.85[EUR][1000 genomes]
rs7310538	0.84[EUR][1000 genomes]
rs7311987	0.83[EUR][1000 genomes]
rs7313285	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7968660	0.84[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

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12269600-12343200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:12272200-12344600	Weak transcription	Primary B cells from cord blood	blood
3	chr12:12279800-12342800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr12:12288200-12342800	Weak transcription	K562	blood
5	chr12:12304000-12353000	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr12:12312000-12350600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr12:12312200-12355800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:12312200-12362000	Weak transcription	Hela-S3	cervix
9	chr12:12315400-12371600	Weak transcription	Lung	lung
10	chr12:12325400-12360000	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr12:12329600-12343200	Weak transcription	Placenta	Placenta
12	chr12:12330200-12343200	Weak transcription	GM12878-XiMat	blood
13	chr12:12334200-12350800	Weak transcription	Fetal Thymus	thymus
14	chr12:12334400-12343200	Weak transcription	Fetal Intestine Large	intestine
15	chr12:12334400-12348400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr12:12334400-12349200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr12:12334400-12349600	Weak transcription	Dnd41	blood
18	chr12:12334400-12351200	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr12:12334400-12352000	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr12:12334400-12354000	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr12:12334400-12367600	Weak transcription	Duodenum Mucosa	Duodenum
22	chr12:12334600-12349200	Weak transcription	Primary hematopoietic stem cells	blood
23	chr12:12334800-12346800	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr12:12334800-12352800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr12:12335200-12352000	Weak transcription	HSMM	muscle
26	chr12:12335200-12365800	Weak transcription	NHEK	skin
27	chr12:12335800-12343600	Weak transcription	HMEC	breast
28	chr12:12335800-12354000	Weak transcription	HSMMtube	muscle
29	chr12:12336000-12352000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr12:12336000-12354200	Weak transcription	Primary T cells from cord blood	blood
31	chr12:12336000-12355600	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr12:12336200-12343000	Weak transcription	Brain Substantia Nigra	brain
33	chr12:12336200-12343200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr12:12336200-12343400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr12:12336200-12343600	Weak transcription	Brain Cingulate Gyrus	brain
36	chr12:12336200-12347000	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr12:12336200-12360000	Weak transcription	Aorta	Aorta
38	chr12:12336200-12363200	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr12:12336200-12369800	Weak transcription	Left Ventricle	heart
40	chr12:12336200-12381000	Weak transcription	Pancreas	Pancrea
41	chr12:12336400-12343400	Weak transcription	Brain Angular Gyrus	brain
42	chr12:12336400-12343800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr12:12336400-12343800	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr12:12336400-12343800	Weak transcription	HUVEC	blood vessel
45	chr12:12336400-12344000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr12:12336400-12344000	Weak transcription	Brain Anterior Caudate	brain
47	chr12:12336400-12348800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr12:12336400-12349600	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr12:12336400-12357400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr12:12336600-12343200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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