Variant report

Variant	rs4324801
Chromosome Location	chr6:114330473-114330474
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs17075809	0.91[YRI][hapmap]
rs17075816	0.91[YRI][hapmap]
rs352091	1.00[CHB][hapmap]
rs4466275	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4945509	0.84[AFR][1000 genomes]
rs4945511	0.83[ASN][1000 genomes]
rs4945990	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6568825	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6916426	0.95[AFR][1000 genomes]
rs6924176	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7747625	0.85[AFR][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	nsv1021774	chr6:114063971-114407280	Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv538422	chr6:114063971-114407280	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv1024062	chr6:114311029-114679557	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:114311800-114332400	Weak transcription	Fetal Brain Female	brain
2	chr6:114314600-114331200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:114318800-114331600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr6:114328200-114330600	Enhancers	HUVEC	blood vessel
5	chr6:114328200-114333000	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr6:114328200-114333200	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr6:114328400-114330800	Enhancers	Brain Angular Gyrus	brain
8	chr6:114328400-114331400	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr6:114328400-114332600	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr6:114328400-114332800	Enhancers	H1 Cell Line	embryonic stem cell
11	chr6:114329200-114331000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr6:114329200-114332000	Weak transcription	Fetal Thymus	thymus
13	chr6:114329200-114332400	Weak transcription	Brain Anterior Caudate	brain
14	chr6:114329200-114333000	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr6:114329200-114342200	Weak transcription	Brain Substantia Nigra	brain
16	chr6:114329400-114332400	Weak transcription	Brain Hippocampus Middle	brain
17	chr6:114329600-114331000	Enhancers	Fetal Intestine Large	intestine
18	chr6:114329800-114331000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr6:114329800-114331000	Weak transcription	Placenta	Placenta
20	chr6:114329800-114331200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr6:114329800-114331200	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr6:114329800-114331400	Weak transcription	HSMM	muscle
23	chr6:114329800-114331400	Weak transcription	HSMMtube	muscle
24	chr6:114329800-114332200	Weak transcription	Dnd41	blood
25	chr6:114329800-114338200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr6:114330000-114330600	Enhancers	Muscle Satellite Cultured Cells	--
27	chr6:114330000-114335200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr6:114330200-114331600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr6:114330200-114332400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr6:114330200-114332400	Enhancers	Placenta Amnion	Placenta Amnion
31	chr6:114330400-114330600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
32	chr6:114330400-114330600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr6:114330400-114331200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr6:114330400-114331400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell

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