Variant report

Variant	rs1604785
Chromosome Location	chr4:148724638-148724639
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:148722956..148724829-chr4:148728693..148731642,2	MCF-7	breast:
2	chr4:148722709..148724828-chr4:148742107..148743929,2	MCF-7	breast:
3	chr4:148706652..148708945-chr4:148723113..148725039,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000240014	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10027921	0.84[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10032488	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11099669	1.00[JPT][hapmap];0.84[YRI][hapmap]
rs1119887	0.89[JPT][hapmap]
rs11729081	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12640660	0.82[CEU][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap]
rs12645249	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12648074	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12650280	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13116955	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13134018	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs13136202	0.81[EUR][1000 genomes]
rs17023844	0.89[JPT][hapmap]
rs2118036	1.00[CEU][hapmap];0.92[CHB][hapmap];0.90[JPT][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2134706	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4835456	0.92[CHB][hapmap];0.88[ASN][1000 genomes]
rs6535556	0.90[JPT][hapmap]
rs6535561	0.85[CHB][hapmap];0.88[JPT][hapmap];0.86[YRI][hapmap];0.82[AMR][1000 genomes]
rs6822971	0.82[CEU][hapmap];0.92[YRI][hapmap]
rs6829479	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6837391	0.86[CHB][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6845560	0.82[CEU][hapmap];0.92[YRI][hapmap]
rs7673606	1.00[JPT][hapmap];0.87[YRI][hapmap]
rs9332471	0.82[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap]
rs964170	0.82[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.82[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	nsv1028958	chr4:148377752-148793485	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv498083	chr4:148519825-148917583	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv880242	chr4:148659137-148727355	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148710400-148729600	Weak transcription	HSMM	muscle
2	chr4:148711000-148729200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr4:148715200-148735200	Weak transcription	Stomach Mucosa	stomach
4	chr4:148716000-148734800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr4:148716600-148732800	Weak transcription	Fetal Intestine Small	intestine
6	chr4:148720400-148729200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr4:148720600-148729200	Weak transcription	HSMMtube	muscle
8	chr4:148721400-148729200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr4:148721600-148729200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr4:148721600-148729200	Weak transcription	Adipose Nuclei	Adipose
11	chr4:148721600-148734400	Weak transcription	Fetal Stomach	stomach
12	chr4:148721600-148737200	Weak transcription	Gastric	stomach
13	chr4:148721800-148729400	Weak transcription	Fetal Muscle Leg	muscle
14	chr4:148721800-148729600	Weak transcription	Pancreas	Pancrea
15	chr4:148721800-148735200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr4:148721800-148744200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr4:148722000-148733000	Weak transcription	Esophagus	oesophagus
18	chr4:148722200-148729000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr4:148722200-148729200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr4:148722200-148730000	Weak transcription	Lung	lung
21	chr4:148723800-148725000	Weak transcription	Fetal Heart	heart
22	chr4:148723800-148727800	Weak transcription	Aorta	Aorta
23	chr4:148723800-148729000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr4:148723800-148729000	Weak transcription	GM12878-XiMat	blood
25	chr4:148723800-148729200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr4:148724000-148729000	Weak transcription	Stomach Smooth Muscle	stomach
27	chr4:148724000-148733400	Weak transcription	Rectal Smooth Muscle	rectum
28	chr4:148724200-148727800	Weak transcription	Left Ventricle	heart
29	chr4:148724200-148729200	Weak transcription	Right Ventricle	heart
30	chr4:148724200-148729400	Weak transcription	Colon Smooth Muscle	Colon
31	chr4:148724200-148729400	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr4:148724200-148730000	Weak transcription	Thymus	Thymus
33	chr4:148724400-148725600	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr4:148724400-148727200	Weak transcription	Ovary	ovary
35	chr4:148724400-148729200	Weak transcription	Right Atrium	heart
36	chr4:148724400-148730000	Weak transcription	Psoas Muscle	Psoas

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