Variant report

Variant	rs1462998
Chromosome Location	chr4:22439241-22439242
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:22437735..22439383-chr4:22516765..22518580,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000152990	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10006549	1.00[AMR][1000 genomes]
rs10012247	1.00[AMR][1000 genomes]
rs10013902	1.00[AMR][1000 genomes]
rs16872644	1.00[TSI][hapmap]
rs28501220	1.00[AMR][1000 genomes]
rs28518171	1.00[AMR][1000 genomes]
rs28542982	1.00[AMR][1000 genomes]
rs28630756	1.00[AMR][1000 genomes]
rs28787887	1.00[AMR][1000 genomes]
rs28839846	1.00[AMR][1000 genomes]
rs6840912	1.00[AMR][1000 genomes]
rs6846776	1.00[AMR][1000 genomes]
rs7657782	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3349061	chr4:22379581-22887563	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv878752	chr4:22414023-22501043	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv821634	chr4:22427074-22865948	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1462998	MIR367	trans	lymphoblastoid	seeQTL

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:22371600-22449800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr4:22383600-22442800	Weak transcription	A549	lung
3	chr4:22386000-22446600	Weak transcription	Fetal Thymus	thymus
4	chr4:22388200-22442800	Weak transcription	Brain Germinal Matrix	brain
5	chr4:22388400-22473600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr4:22388800-22469600	Weak transcription	Colonic Mucosa	Colon
7	chr4:22389200-22473600	Weak transcription	Fetal Brain Male	brain
8	chr4:22390600-22439600	Weak transcription	Stomach Smooth Muscle	stomach
9	chr4:22390600-22456200	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr4:22390600-22459800	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr4:22393400-22444800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr4:22393600-22459800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr4:22393800-22446400	Weak transcription	NH-A	brain
14	chr4:22393800-22453000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr4:22399800-22442800	Weak transcription	Fetal Brain Female	brain
16	chr4:22400000-22448000	Weak transcription	Left Ventricle	heart
17	chr4:22400800-22449600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr4:22400800-22461800	Weak transcription	Gastric	stomach
19	chr4:22405400-22446000	Weak transcription	Pancreas	Pancrea
20	chr4:22412800-22446000	Weak transcription	Thymus	Thymus
21	chr4:22416800-22449600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr4:22417600-22442200	Weak transcription	Hela-S3	cervix
23	chr4:22419200-22476200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr4:22419400-22465800	Weak transcription	HUVEC	blood vessel
25	chr4:22420600-22488000	Weak transcription	Aorta	Aorta
26	chr4:22421200-22442600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr4:22422000-22441400	Weak transcription	Right Ventricle	heart
28	chr4:22422000-22453400	Weak transcription	Esophagus	oesophagus
29	chr4:22422600-22442800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr4:22424400-22457800	Weak transcription	Dnd41	blood
31	chr4:22424600-22448000	Weak transcription	Fetal Kidney	kidney
32	chr4:22426000-22461800	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr4:22426200-22442400	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr4:22426200-22443200	Weak transcription	Duodenum Mucosa	Duodenum
35	chr4:22426800-22442800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr4:22427400-22444400	Weak transcription	Primary T cells from cord blood	blood
37	chr4:22428600-22460600	Weak transcription	Placenta	Placenta
38	chr4:22429200-22443400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr4:22429400-22457800	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr4:22429600-22446600	Weak transcription	HSMMtube	muscle
41	chr4:22430600-22439400	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr4:22430600-22442800	Weak transcription	Adipose Nuclei	Adipose
43	chr4:22430600-22446200	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr4:22430600-22456000	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr4:22430800-22442800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr4:22431800-22442800	Weak transcription	Fetal Lung	lung
47	chr4:22432400-22451400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr4:22432400-22460400	Weak transcription	Small Intestine	intestine
49	chr4:22432800-22442800	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr4:22433400-22441000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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