Variant report

Variant	rs6814708
Chromosome Location	chr4:7280324-7280325
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	chr4:7213111..7215832-chr4:7278141..7280454,2	MCF-7	breast:
2	chr4:7278740..7281042-chr4:7284986..7286499,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs17755381	1.00[CHB][hapmap]
rs28454024	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6824726	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6831668	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6840893	0.86[CHB][hapmap]
rs6857447	0.86[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34033	chr4:6973270-7390621	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv829850	chr4:7112509-7314016	Bivalent Enhancer Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
3	nsv432556	chr4:7174993-7391948	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
4	nsv878541	chr4:7211197-7341243	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
5	nsv916610	chr4:7238883-7731946	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
6	nsv461200	chr4:7256620-7297506	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv593567	chr4:7256620-7297506	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv461201	chr4:7256620-7311399	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv593568	chr4:7256620-7311399	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs6814708	FUT4	trans	lymphoblastoid	seeQTL
rs6814708	MNX1	trans	lymphoblastoid	seeQTL
rs6814708	F13A1	trans	lymphoblastoid	seeQTL
rs6814708	HNF1B	trans	lymphoblastoid	seeQTL
rs6814708	FXYD2	trans	lymphoblastoid	seeQTL
rs6814708	CD244	trans	lymphoblastoid	seeQTL

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7259200-7281000	Weak transcription	Ovary	ovary
2	chr4:7274800-7281000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr4:7277600-7282200	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr4:7277600-7282600	Weak transcription	Brain Germinal Matrix	brain
5	chr4:7278000-7282400	Weak transcription	Brain Anterior Caudate	brain
6	chr4:7278200-7282400	Weak transcription	Brain Substantia Nigra	brain
7	chr4:7278400-7283000	Weak transcription	Brain Cingulate Gyrus	brain
8	chr4:7278600-7280800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr4:7278600-7281200	Weak transcription	NH-A	brain
10	chr4:7278600-7283600	Weak transcription	Lung	lung
11	chr4:7278600-7285000	Enhancers	Fetal Brain Male	brain
12	chr4:7278800-7281600	Weak transcription	HSMM	muscle
13	chr4:7278800-7283000	Weak transcription	Brain Hippocampus Middle	brain
14	chr4:7278800-7284200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr4:7278800-7292800	Weak transcription	Right Atrium	heart
16	chr4:7279000-7280800	Bivalent Enhancer	Fetal Stomach	stomach
17	chr4:7279200-7289400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr4:7279800-7280400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr4:7280000-7280800	Enhancers	Fetal Muscle Trunk	muscle
20	chr4:7280200-7280400	Enhancers	Fetal Thymus	thymus
21	chr4:7280200-7281600	Enhancers	Fetal Brain Female	brain
22	chr4:7280200-7282800	Enhancers	Fetal Muscle Leg	muscle

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