Variant report

Variant	rs12074253
Chromosome Location	chr1:221892235-221892236
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	chr1:221891993..221895094-chr1:221895705..221898533,3	K562	blood:
2	chr1:221887523..221889150-chr1:221891043..221892989,2	MCF-7	breast:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12057339	1.00[AMR][1000 genomes]
rs12059970	1.00[AMR][1000 genomes]
rs12068699	1.00[AMR][1000 genomes]
rs12069068	1.00[AMR][1000 genomes]
rs12095091	1.00[AMR][1000 genomes]
rs12095764	1.00[AMR][1000 genomes]
rs55927813	1.00[AMR][1000 genomes]
rs55952360	1.00[AMR][1000 genomes]
rs56906577	1.00[AMR][1000 genomes]
rs73110844	1.00[AMR][1000 genomes]
rs74145398	1.00[AMR][1000 genomes]
rs74147814	1.00[AMR][1000 genomes]
rs74147822	1.00[AMR][1000 genomes]
rs74147825	1.00[AMR][1000 genomes]
rs74147826	1.00[AMR][1000 genomes]
rs74147828	1.00[AMR][1000 genomes]
rs74147829	1.00[AMR][1000 genomes]
rs74147830	1.00[AMR][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	nsv469786	chr1:221855871-222040335	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv482867	chr1:221855871-222040335	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1002463	chr1:221863355-222095773	Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv535302	chr1:221863355-222095773	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv1007092	chr1:221883491-221958279	Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	nsv535303	chr1:221883491-221958279	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
7	esv3367684	chr1:221892180-221892504	Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221879600-221902400	Enhancers	Brain Substantia Nigra	brain
2	chr1:221879800-221896800	Enhancers	Colon Smooth Muscle	Colon
3	chr1:221880400-221893200	Enhancers	Primary hematopoietic stem cells	blood
4	chr1:221882600-221893400	Enhancers	Brain Cingulate Gyrus	brain
5	chr1:221882800-221899000	Genic enhancers	HSMM	muscle
6	chr1:221884800-221896200	Enhancers	Rectal Smooth Muscle	rectum
7	chr1:221886000-221895200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:221886200-221896000	Weak transcription	NHEK	skin
9	chr1:221886600-221896000	Weak transcription	Aorta	Aorta
10	chr1:221886600-221897000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr1:221886600-221897000	Weak transcription	Duodenum Mucosa	Duodenum
12	chr1:221886600-221897000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr1:221887200-221899000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr1:221887400-221893400	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr1:221887800-221892400	Weak transcription	Primary B cells from peripheral blood	blood
16	chr1:221887800-221893000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr1:221887800-221894000	Enhancers	Fetal Stomach	stomach
18	chr1:221887800-221898400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr1:221888000-221893200	Enhancers	Liver	Liver
20	chr1:221888000-221894400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr1:221888000-221899000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr1:221888000-221903000	Enhancers	Brain Hippocampus Middle	brain
23	chr1:221888400-221892600	Enhancers	Stomach Mucosa	stomach
24	chr1:221888400-221893400	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr1:221888600-221893200	Enhancers	Fetal Muscle Leg	muscle
26	chr1:221888600-221894000	Enhancers	NHLF	lung
27	chr1:221888600-221896800	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr1:221888800-221893000	Enhancers	Fetal Heart	heart
29	chr1:221888800-221898600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr1:221889000-221893000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr1:221889000-221893200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr1:221889000-221893600	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr1:221889000-221896600	Weak transcription	Primary T cells from cord blood	blood
34	chr1:221889200-221892400	Enhancers	Small Intestine	intestine
35	chr1:221889200-221893000	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr1:221889200-221893200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr1:221889200-221893200	Enhancers	Pancreas	Pancrea
38	chr1:221889200-221893200	Enhancers	Psoas Muscle	Psoas
39	chr1:221889400-221892400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
40	chr1:221889400-221893600	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr1:221889400-221899600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr1:221889600-221892800	Enhancers	Fetal Kidney	kidney
43	chr1:221889600-221896400	Weak transcription	Dnd41	blood
44	chr1:221889800-221899000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr1:221890000-221892400	Enhancers	Rectal Mucosa Donor 29	rectum
46	chr1:221890000-221893400	Enhancers	Brain Anterior Caudate	brain
47	chr1:221890200-221892800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
48	chr1:221890400-221892600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr1:221890400-221892800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr1:221890400-221892800	Enhancers	Cortex derived primary cultured neurospheres	brain

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