Variant report

Variant	rs6924680
Chromosome Location	chr6:114332918-114332919
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	KAP1	chr6:114332525-114333049	U2OS	brain:	n/a	n/a
2	POLR2A	chr6:114332903-114333090	H1-hESC	embryonic stem cell:	n/a	n/a
3	KAP1	chr6:114332557-114333101	HEK293	kidney:	n/a	n/a
4	SETDB1	chr6:114332611-114332966	U2OS	brain:	n/a	n/a
5	GATA2	chr6:114332534-114333017	K562	blood:	n/a	n/a
6	TCF7L2	chr6:114332557-114332987	HEK293	kidney:	n/a	n/a

Variant related genes	Relation type
HDAC2	TF binding region

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10456889	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11153457	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11752089	0.82[AMR][1000 genomes]
rs11752866	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11752970	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11756975	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11966557	0.87[CEU][hapmap];0.85[JPT][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12199104	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12205029	0.88[CEU][hapmap];0.86[JPT][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12212081	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12665538	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12665551	0.91[CEU][hapmap];0.87[YRI][hapmap];0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13195526	0.88[CEU][hapmap];0.86[JPT][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13201675	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13210690	0.86[JPT][hapmap]
rs1334901	0.86[JPT][hapmap]
rs1334902	0.86[JPT][hapmap]
rs17075821	0.86[JPT][hapmap]
rs17189832	0.86[JPT][hapmap]
rs2499615	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35080884	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35166510	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35275613	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35944188	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3897892	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4311539	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4320400	0.95[AFR][1000 genomes]
rs4371870	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4463289	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4604299	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4945986	0.89[AFR][1000 genomes]
rs6926298	0.86[JPT][hapmap]
rs71566758	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7739597	0.87[CEU][hapmap];0.86[JPT][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7742511	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7750794	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7750938	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7751120	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9398371	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][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:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:114328200-114333000	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr6:114328200-114333200	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr6:114329200-114333000	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr6:114329200-114342200	Weak transcription	Brain Substantia Nigra	brain
5	chr6:114329800-114338200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr6:114330000-114335200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr6:114330600-114335000	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr6:114331200-114333000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr6:114331200-114333000	Enhancers	Stomach Mucosa	stomach
10	chr6:114331400-114333000	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr6:114331400-114333000	Enhancers	HSMM	muscle
12	chr6:114331600-114333000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr6:114332000-114333000	Enhancers	Fetal Heart	heart
14	chr6:114332000-114333600	Enhancers	Fetal Thymus	thymus
15	chr6:114332200-114333000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr6:114332200-114333000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr6:114332600-114333000	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr6:114332600-114333000	Enhancers	Gastric	stomach
19	chr6:114332600-114335200	Enhancers	Placenta	Placenta
20	chr6:114332600-114336800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr6:114332600-114337000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr6:114332800-114333600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr6:114332800-114334400	Weak transcription	HSMMtube	muscle
24	chr6:114332800-114338000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr6:114332800-114338200	Weak transcription	Brain Hippocampus Middle	brain

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