Variant report

Variant	rs1878404
Chromosome Location	chr4:148440625-148440626
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:148438170..148441036-chr4:148443723..148446840,3	K562	blood:
2	chr4:148439062..148441461-chr4:148511763..148514115,2	MCF-7	breast:
3	chr4:148439677..148440826-chr4:148787272..148788626,10	K562	blood:
4	chr4:148440067..148441110-chr4:148510925..148512204,7	MCF-7	breast:
5	chr4:148439745..148440641-chr4:148511561..148512087,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10305895	0.91[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1568136	0.91[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.87[AFR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6537487	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6537489	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6812093	0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.87[AFR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6821368	1.00[CEU][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6822565	0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.87[AFR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7674137	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830109	chr4:148295061-148468605	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	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
3	nsv880241	chr4:148411178-148461073	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
4	nsv830110	chr4:148432125-148595119	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv428776	chr4:148432125-148595119	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148414400-148447400	Weak transcription	Fetal Stomach	stomach
2	chr4:148422200-148443000	Weak transcription	Fetal Intestine Small	intestine
3	chr4:148432200-148472600	Weak transcription	Fetal Muscle Trunk	muscle
4	chr4:148434200-148462600	Weak transcription	Stomach Smooth Muscle	stomach
5	chr4:148434400-148443400	Weak transcription	Right Atrium	heart
6	chr4:148434400-148447400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr4:148434600-148443400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr4:148436400-148443800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr4:148436600-148445400	Weak transcription	HSMMtube	muscle
10	chr4:148436800-148447400	Weak transcription	Right Ventricle	heart
11	chr4:148437600-148447000	Weak transcription	Ovary	ovary
12	chr4:148437600-148447400	Weak transcription	Left Ventricle	heart
13	chr4:148438600-148443000	Weak transcription	Fetal Lung	lung
14	chr4:148438800-148445400	Weak transcription	Fetal Heart	heart
15	chr4:148439000-148441000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr4:148439800-148447200	Weak transcription	Aorta	Aorta
17	chr4:148440200-148451800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr4:148440400-148445400	Weak transcription	Hela-S3	cervix
19	chr4:148440400-148463400	Weak transcription	NH-A	brain
20	chr4:148440600-148455000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr4:148440600-148466800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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