Variant report

Variant	rs7300385
Chromosome Location	chr12:121743034-121743035
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:121736650..121739500-chr12:121740653..121743814,3	K562	blood:
2	chr12:121732846..121736440-chr12:121741046..121746496,5	MCF-7	breast:
3	chr12:121742230..121744210-chr12:121746039..121747596,2	K562	blood:
4	chr12:121730283..121732631-chr12:121741118..121743378,2	MCF-7	breast:
5	chr12:121737101..121740224-chr12:121740653..121743951,4	K562	blood:
6	chr12:121740867..121743563-chr12:121749932..121751434,2	K562	blood:

Variant related genes	Relation type
ENSG00000110931	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12581628	0.83[EUR][1000 genomes]
rs2001701	0.92[ASN][1000 genomes]
rs2007651	0.88[ASN][1000 genomes]
rs2280067	0.81[ASN][1000 genomes]
rs2461474	0.85[ASN][1000 genomes]
rs2686356	0.81[ASN][1000 genomes]
rs2948127	0.88[ASN][1000 genomes]
rs2948132	0.86[ASN][1000 genomes]
rs3751162	0.81[ASN][1000 genomes]
rs7134657	0.88[ASN][1000 genomes]
rs7297531	0.82[ASN][1000 genomes]
rs7965129	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv560454	chr12:121457073-121745742	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1054878	chr12:121519880-121761800	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv455729	chr12:121525591-121761800	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv560455	chr12:121525591-121761800	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv1050519	chr12:121552964-121756420	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	nsv1048801	chr12:121695522-121761800	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121735400-121745800	Weak transcription	Small Intestine	intestine
2	chr12:121735600-121745400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr12:121735600-121745600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr12:121735600-121745600	Weak transcription	Left Ventricle	heart
5	chr12:121735600-121745600	Weak transcription	HSMMtube	muscle
6	chr12:121735600-121745800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr12:121735600-121745800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr12:121735600-121745800	Weak transcription	Gastric	stomach
9	chr12:121735600-121745800	Weak transcription	Ovary	ovary
10	chr12:121735600-121745800	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr12:121735600-121745800	Weak transcription	A549	lung
12	chr12:121735600-121746000	Weak transcription	Brain Substantia Nigra	brain
13	chr12:121735600-121746000	Weak transcription	HMEC	breast
14	chr12:121735600-121747400	Weak transcription	NHLF	lung
15	chr12:121735600-121755600	Weak transcription	Brain Angular Gyrus	brain
16	chr12:121735600-121755800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr12:121735600-121755800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr12:121735600-121755800	Weak transcription	Aorta	Aorta
19	chr12:121735600-121755800	Weak transcription	Esophagus	oesophagus
20	chr12:121735800-121744600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr12:121735800-121745600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr12:121735800-121745600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr12:121735800-121745600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr12:121735800-121745600	Weak transcription	Brain Germinal Matrix	brain
25	chr12:121735800-121745600	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr12:121735800-121745600	Weak transcription	Thymus	Thymus
27	chr12:121735800-121745800	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr12:121735800-121745800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr12:121735800-121745800	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr12:121735800-121745800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr12:121735800-121745800	Weak transcription	Primary T cells from cord blood	blood
32	chr12:121735800-121745800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr12:121735800-121745800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr12:121735800-121745800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr12:121735800-121745800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr12:121735800-121745800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr12:121735800-121745800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr12:121735800-121745800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr12:121735800-121745800	Weak transcription	Brain Anterior Caudate	brain
40	chr12:121735800-121745800	Weak transcription	Brain Hippocampus Middle	brain
41	chr12:121735800-121745800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr12:121735800-121745800	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr12:121735800-121745800	Weak transcription	Lung	lung
44	chr12:121735800-121745800	Weak transcription	Dnd41	blood
45	chr12:121735800-121745800	Weak transcription	NHEK	skin
46	chr12:121735800-121746000	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr12:121735800-121747200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr12:121735800-121747400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr12:121735800-121754000	Weak transcription	Fetal Kidney	kidney
50	chr12:121735800-121755800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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