Variant report

Variant	rs34201398
Chromosome Location	chr12:12358953-12358954
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	chr12:12358286..12360439-chr12:12418199..12420506,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000070018	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11054736	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11054738	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11054741	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11611108	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1181332	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1181334	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12372237	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12817910	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12820350	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12823867	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35172905	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56084505	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61920856	0.92[ASN][1000 genomes]
rs71457140	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
6	nsv832332	chr12:12344027-12484966	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12312200-12362000	Weak transcription	Hela-S3	cervix
2	chr12:12315400-12371600	Weak transcription	Lung	lung
3	chr12:12325400-12360000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr12:12334400-12367600	Weak transcription	Duodenum Mucosa	Duodenum
5	chr12:12335200-12365800	Weak transcription	NHEK	skin
6	chr12:12336200-12360000	Weak transcription	Aorta	Aorta
7	chr12:12336200-12363200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr12:12336200-12369800	Weak transcription	Left Ventricle	heart
9	chr12:12336200-12381000	Weak transcription	Pancreas	Pancrea
10	chr12:12340600-12359400	Weak transcription	Ovary	ovary
11	chr12:12342200-12360000	Weak transcription	Rectal Smooth Muscle	rectum
12	chr12:12344000-12367800	Weak transcription	NHLF	lung
13	chr12:12344200-12367200	Weak transcription	Colon Smooth Muscle	Colon
14	chr12:12344200-12367400	Weak transcription	Brain Substantia Nigra	brain
15	chr12:12344200-12367800	Weak transcription	NH-A	brain
16	chr12:12344200-12377000	Weak transcription	NHDF-Ad	bronchial
17	chr12:12347600-12367800	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr12:12348800-12367000	Weak transcription	HUVEC	blood vessel
19	chr12:12349000-12367600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr12:12351400-12361800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr12:12351800-12360000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr12:12352200-12362000	Weak transcription	Brain Angular Gyrus	brain
23	chr12:12352200-12367200	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr12:12352400-12360600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr12:12352600-12364400	Weak transcription	HSMM	muscle
26	chr12:12352600-12367600	Weak transcription	Primary hematopoietic stem cells	blood
27	chr12:12353200-12367400	Weak transcription	Fetal Kidney	kidney
28	chr12:12353400-12367000	Weak transcription	Brain Hippocampus Middle	brain
29	chr12:12353800-12359800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr12:12354600-12367800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr12:12354800-12370400	Weak transcription	Fetal Muscle Leg	muscle
32	chr12:12355000-12367800	Weak transcription	Gastric	stomach
33	chr12:12355400-12367400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr12:12355400-12367600	Weak transcription	Osteobl	bone
35	chr12:12355400-12369400	Weak transcription	Adipose Nuclei	Adipose
36	chr12:12355600-12365800	Weak transcription	Fetal Intestine Small	intestine
37	chr12:12355600-12367600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr12:12355600-12367600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr12:12355600-12367800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr12:12355600-12367800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr12:12355600-12367800	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr12:12355600-12369800	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr12:12355800-12359800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr12:12355800-12359800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr12:12355800-12360000	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr12:12355800-12361600	Weak transcription	Fetal Heart	heart
47	chr12:12355800-12361600	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr12:12355800-12364000	Weak transcription	Psoas Muscle	Psoas
49	chr12:12355800-12367000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr12:12355800-12367400	Weak transcription	HUES6 Cell Line	embryonic stem cell

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