Variant report

Variant	rs34448107
Chromosome Location	chr15:93506084-93506085
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:93503187..93507973-chr15:93511810..93515580,5	K562	blood:
2	chr15:93500970..93503092-chr15:93504292..93507134,2	MCF-7	breast:
3	chr15:93446075..93450241-chr15:93504408..93507692,3	K562	blood:
4	chr15:93504557..93506512-chr15:93511692..93514285,2	K562	blood:
5	chr15:93491316..93493759-chr15:93505749..93507821,2	K562	blood:

Variant related genes	Relation type
ENSG00000264173	Chromatin interaction
ENSG00000173575	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10520718	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1074512	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11074120	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11634566	0.83[AMR][1000 genomes]
rs11857466	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11857669	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12438635	0.80[AMR][1000 genomes]
rs12591124	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12592920	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12594474	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12594991	0.83[AMR][1000 genomes]
rs12914956	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17610487	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1881834	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2388055	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs36032658	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3736619	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3784785	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3826035	0.83[AMR][1000 genomes]
rs62023146	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6497011	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6497013	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7174043	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7176652	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7179863	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8026679	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8042395	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8042632	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9302362	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948738	chr15:93070742-93728147	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
2	nsv1049490	chr15:93134405-93591660	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	151 gene(s)	inside rSNPs	diseases
3	nsv530846	chr15:93323949-94030462	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	153 gene(s)	inside rSNPs	diseases
4	nsv948881	chr15:93383740-93603608	Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
5	nsv530847	chr15:93444024-93555676	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
6	nsv917347	chr15:93444094-93586814	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	39 gene(s)	inside rSNPs	diseases
7	esv3447109	chr15:93506025-93506184	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs34448107	CHD2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:93493000-93508600	Strong transcription	Hela-S3	cervix
2	chr15:93493200-93508200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr15:93493200-93512200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr15:93493200-93533000	Strong transcription	Cortex derived primary cultured neurospheres	brain
5	chr15:93493200-93536000	Strong transcription	HSMM	muscle
6	chr15:93493200-93571000	Strong transcription	Dnd41	blood
7	chr15:93493200-93571200	Strong transcription	Rectal Mucosa Donor 29	rectum
8	chr15:93493400-93508200	Strong transcription	Primary B cells from cord blood	blood
9	chr15:93493400-93508400	Strong transcription	Duodenum Smooth Muscle	Duodenum
10	chr15:93493400-93511800	Strong transcription	Adipose Nuclei	Adipose
11	chr15:93493400-93511800	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr15:93493400-93548000	Strong transcription	Muscle Satellite Cultured Cells	--
13	chr15:93493400-93568600	Strong transcription	Liver	Liver
14	chr15:93493400-93569600	Strong transcription	Placenta	Placenta
15	chr15:93493400-93571000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr15:93493400-93571000	Strong transcription	Rectal Mucosa Donor 31	rectum
17	chr15:93493600-93510600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr15:93493600-93521600	Strong transcription	Osteobl	bone
19	chr15:93493600-93523400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr15:93493600-93571400	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr15:93493800-93508200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr15:93493800-93508200	Strong transcription	Duodenum Mucosa	Duodenum
23	chr15:93493800-93522400	Strong transcription	Primary B cells from peripheral blood	blood
24	chr15:93493800-93532600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr15:93493800-93561400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr15:93493800-93571400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr15:93494000-93508200	Strong transcription	Fetal Intestine Large	intestine
28	chr15:93494000-93508200	Strong transcription	NHEK	skin
29	chr15:93494000-93508600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr15:93494000-93512400	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr15:93494000-93512600	Weak transcription	Aorta	Aorta
32	chr15:93494000-93520800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr15:93494000-93568200	Strong transcription	Fetal Thymus	thymus
34	chr15:93494000-93570400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
35	chr15:93494000-93570800	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr15:93494000-93571000	Strong transcription	HUES48 Cell Line	embryonic stem cell
37	chr15:93494000-93571400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr15:93494200-93506200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr15:93494200-93512400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr15:93494400-93540600	Strong transcription	Primary T cells from cord blood	blood
41	chr15:93495000-93524800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr15:93495200-93508000	Strong transcription	HUVEC	blood vessel
43	chr15:93496600-93525800	Weak transcription	Stomach Mucosa	stomach
44	chr15:93497600-93517800	Weak transcription	Esophagus	oesophagus
45	chr15:93498800-93507400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
46	chr15:93499400-93512400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr15:93499800-93510600	Weak transcription	Right Ventricle	heart
48	chr15:93500000-93506800	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr15:93500000-93512400	Weak transcription	Gastric	stomach
50	chr15:93500200-93510400	Weak transcription	Small Intestine	intestine

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