Variant report

Variant	rs12647948
Chromosome Location	chr4:74150353-74150354
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:74124371..74126309-chr4:74150004..74152624,2	K562	blood:
2	chr4:74123135..74125450-chr4:74148893..74151656,3	MCF-7	breast:
3	chr4:74136992..74139816-chr4:74149704..74153083,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ALB-6	chr4:74149660-74150663	NONHSAT096838

Variant related genes	Relation type
ENSG00000132466	Chromatin interaction
ENSG00000250220	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10938069	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12507809	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12649635	1.00[AMR][1000 genomes]
rs13121823	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1913150	1.00[AMR][1000 genomes]
rs4403011	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4413377	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4463038	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4694158	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4694594	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4694595	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56349598	1.00[AMR][1000 genomes]
rs57705126	1.00[AMR][1000 genomes]
rs61020873	1.00[AMR][1000 genomes]
rs61741433	1.00[AMR][1000 genomes]
rs6446915	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6446916	1.00[AMR][1000 genomes]
rs6446918	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6813601	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6822576	1.00[AMR][1000 genomes]
rs6824747	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6855107	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7377358	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7657169	1.00[AMR][1000 genomes]
rs9993141	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1000509	chr4:73968978-74206949	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74126000-74153400	Weak transcription	HSMMtube	muscle
2	chr4:74126600-74152400	Weak transcription	Stomach Smooth Muscle	stomach
3	chr4:74127000-74158600	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr4:74127200-74154800	Weak transcription	Left Ventricle	heart
5	chr4:74127400-74154000	Weak transcription	Brain Angular Gyrus	brain
6	chr4:74141400-74151000	Weak transcription	Pancreas	Pancrea
7	chr4:74143000-74158000	Weak transcription	Aorta	Aorta
8	chr4:74143200-74154000	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr4:74143800-74151000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr4:74144600-74154000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr4:74147000-74150400	Strong transcription	Primary T cells from cord blood	blood
12	chr4:74147200-74154200	Weak transcription	Brain Anterior Caudate	brain
13	chr4:74147400-74150600	Weak transcription	Adipose Nuclei	Adipose
14	chr4:74147600-74152800	Weak transcription	Esophagus	oesophagus
15	chr4:74147800-74151000	Weak transcription	Liver	Liver
16	chr4:74147800-74157800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr4:74148000-74150600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr4:74148000-74151000	Weak transcription	Fetal Intestine Small	intestine
19	chr4:74148200-74157200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr4:74148800-74151000	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr4:74149200-74151400	Weak transcription	Primary B cells from peripheral blood	blood
22	chr4:74149200-74151400	Weak transcription	Gastric	stomach
23	chr4:74149400-74153600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr4:74149600-74152600	Weak transcription	Primary hematopoietic stem cells	blood
25	chr4:74150200-74153200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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