Variant report

Variant	rs11158681
Chromosome Location	chr14:68006940-68006941
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:67993812..67995992-chr14:68006775..68009101,2	K562	blood:
2	chr14:67997632..68001958-chr14:68003230..68007409,7	K562	blood:
3	chr14:67997232..68003099-chr14:68003235..68008915,12	K562	blood:
4	chr14:68004825..68008195-chr14:68010390..68013765,5	MCF-7	breast:
5	chr14:68005520..68007606-chr14:68008009..68010384,2	MCF-7	breast:
6	chr14:67997795..68000777-chr14:68005139..68007037,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000054690	Chromatin interaction
ENSG00000198133	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11158682	1.00[CEU][hapmap];0.90[JPT][hapmap];0.86[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11158683	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11158684	1.00[CEU][hapmap];0.96[CHB][hapmap];0.96[JPT][hapmap];0.90[YRI][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12434659	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17782224	0.83[CEU][hapmap]
rs2064929	0.92[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4144498	0.83[YRI][hapmap]
rs4902478	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4902479	1.00[CEU][hapmap];0.91[JPT][hapmap];0.83[YRI][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4902482	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4902483	1.00[CEU][hapmap];0.87[JPT][hapmap];0.90[YRI][hapmap];0.85[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs4902484	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4902486	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6573780	0.92[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7147529	0.96[CEU][hapmap];0.86[JPT][hapmap];0.83[YRI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7154636	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7155887	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs753683	0.87[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv456331	chr14:67732861-68103780	Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv564961	chr14:67732861-68103780	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv470651	chr14:67732861-68113293	Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers 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 miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv902066	chr14:67873128-68103780	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68000400-68044000	Weak transcription	Spleen	Spleen
2	chr14:68000600-68007000	Weak transcription	Lung	lung
3	chr14:68000800-68011400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr14:68000800-68013000	Weak transcription	A549	lung
5	chr14:68001000-68007600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr14:68001000-68008000	Weak transcription	K562	blood
7	chr14:68001000-68010600	Weak transcription	Hela-S3	cervix
8	chr14:68001000-68024400	Weak transcription	Stomach Smooth Muscle	stomach
9	chr14:68001200-68007400	Weak transcription	Duodenum Mucosa	Duodenum
10	chr14:68001400-68007600	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr14:68001400-68028400	Weak transcription	Brain Germinal Matrix	brain
12	chr14:68001600-68008800	Weak transcription	Fetal Brain Female	brain
13	chr14:68001800-68007000	Weak transcription	Fetal Intestine Large	intestine
14	chr14:68001800-68023600	Weak transcription	HepG2	liver
15	chr14:68002000-68065800	Weak transcription	Fetal Brain Male	brain
16	chr14:68003200-68008200	Weak transcription	Pancreas	Pancrea
17	chr14:68003200-68008400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr14:68003200-68008800	Weak transcription	Placenta	Placenta
19	chr14:68003200-68039800	Weak transcription	Fetal Kidney	kidney
20	chr14:68004000-68008200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr14:68005000-68007000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr14:68005200-68008200	Enhancers	H1 Cell Line	embryonic stem cell
23	chr14:68005200-68008400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr14:68005400-68007400	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr14:68005400-68007600	Enhancers	Brain Substantia Nigra	brain
26	chr14:68005400-68008000	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr14:68005400-68008400	Enhancers	Brain Angular Gyrus	brain
28	chr14:68005400-68008600	Enhancers	Brain Cingulate Gyrus	brain
29	chr14:68005400-68018200	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr14:68005600-68008000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr14:68005600-68010800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr14:68005600-68011000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr14:68005600-68023600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr14:68005800-68008000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr14:68005800-68042400	Weak transcription	NHEK	skin
36	chr14:68006200-68007400	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr14:68006200-68008400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr14:68006200-68011200	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr14:68006400-68007400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr14:68006400-68008000	Enhancers	Fetal Intestine Small	intestine
41	chr14:68006400-68008400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr14:68006400-68009800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr14:68006600-68007600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr14:68006600-68008400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr14:68006600-68008400	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr14:68006600-68008600	Enhancers	Brain Hippocampus Middle	brain
47	chr14:68006600-68010000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr14:68006800-68007800	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr14:68006800-68008000	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr14:68006800-68008000	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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