Variant report

Variant	rs67408467
Chromosome Location	chr12:2144213-2144214
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	chr12:2143988..2144629-chr12:2393652..2394189,2	MCF-7	breast:
2	chr12:2144090..2145938-chr12:2158684..2161227,2	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10848606	0.88[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs11062076	0.89[EUR][1000 genomes]
rs11062086	0.84[EUR][1000 genomes]
rs11062091	0.82[EUR][1000 genomes]
rs11062094	0.92[EUR][1000 genomes]
rs12321674	0.84[EUR][1000 genomes]
rs12371253	0.92[EUR][1000 genomes]
rs2215095	0.83[EUR][1000 genomes]
rs2283269	0.89[EUR][1000 genomes]
rs2470401	0.84[EUR][1000 genomes]
rs2470422	0.83[EUR][1000 genomes]
rs68133359	0.88[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs7300631	0.84[EUR][1000 genomes]
rs740456	0.85[EUR][1000 genomes]
rs9888329	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9888368	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948480	chr12:1776217-2284333	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv898598	chr12:1939252-2215448	Strong transcription Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv1040370	chr12:2021395-2671017	Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv948400	chr12:2022411-2601363	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv521838	chr12:2060580-2299680	Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv1035885	chr12:2077660-2310157	Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv541350	chr12:2077660-2310157	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv1038722	chr12:2085035-2308205	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv541351	chr12:2085035-2308205	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv898601	chr12:2124955-2215448	Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv826182	chr12:2136395-2208074	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:2133000-2144400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:2140600-2144400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:2143200-2149000	Enhancers	Fetal Heart	heart
4	chr12:2143600-2144600	Bivalent Enhancer	Stomach Mucosa	stomach
5	chr12:2143800-2144400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
6	chr12:2143800-2144400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
7	chr12:2143800-2144400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
8	chr12:2143800-2144400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
9	chr12:2143800-2144400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
10	chr12:2143800-2144400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
11	chr12:2143800-2144400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr12:2143800-2144400	Bivalent Enhancer	Fetal Intestine Large	intestine
13	chr12:2143800-2144400	Bivalent Enhancer	Fetal Muscle Leg	muscle
14	chr12:2143800-2144400	Bivalent Enhancer	Placenta	Placenta
15	chr12:2143800-2144400	Bivalent Enhancer	Fetal Thymus	thymus
16	chr12:2143800-2144400	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
17	chr12:2143800-2144400	Bivalent Enhancer	NHEK	skin
18	chr12:2143800-2144600	Flanking Active TSS	GM12878-XiMat	blood
19	chr12:2143800-2144800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
20	chr12:2143800-2144800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
21	chr12:2143800-2144800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr12:2143800-2144800	Enhancers	Placenta Amnion	Placenta Amnion
23	chr12:2143800-2144800	Enhancers	Spleen	Spleen
24	chr12:2143800-2145000	Enhancers	Primary hematopoietic stem cells	blood
25	chr12:2143800-2145000	Flanking Active TSS	Brain Cingulate Gyrus	brain
26	chr12:2143800-2145000	Flanking Active TSS	Brain Hippocampus Middle	brain
27	chr12:2143800-2145000	Flanking Active TSS	Brain Substantia Nigra	brain
28	chr12:2143800-2145000	Flanking Active TSS	Stomach Smooth Muscle	stomach
29	chr12:2143800-2145000	Flanking Bivalent TSS/Enh	Dnd41	blood
30	chr12:2143800-2146800	Enhancers	Left Ventricle	heart
31	chr12:2144000-2144400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr12:2144000-2144400	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
33	chr12:2144000-2144400	Bivalent/Poised TSS	Primary B cells from cord blood	blood
34	chr12:2144000-2144400	Active TSS	Primary T helper cells PMA-I stimulated	--
35	chr12:2144000-2144400	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
36	chr12:2144000-2144400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
37	chr12:2144000-2144400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr12:2144000-2144400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr12:2144000-2144400	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
40	chr12:2144000-2144400	Bivalent/Poised TSS	Cortex derived primary cultured neurospheres	brain
41	chr12:2144000-2144400	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr12:2144000-2144400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr12:2144000-2144400	Active TSS	Duodenum Smooth Muscle	Duodenum
44	chr12:2144000-2144400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
45	chr12:2144000-2144400	Enhancers	Fetal Brain Male	brain
46	chr12:2144000-2144400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
47	chr12:2144000-2144400	Bivalent/Poised TSS	NHDF-Ad	bronchial
48	chr12:2144000-2144600	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr12:2144000-2144600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
50	chr12:2144000-2144600	Active TSS	Primary T killer memory cells from peripheral blood	blood

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