Variant report

Variant	rs11726284
Chromosome Location	chr4:104015314-104015315
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	chr4:104012846..104015540-chr4:104018852..104022856,5	K562	blood:

Variant related genes	Relation type
ENSG00000164039	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10516498	0.86[GIH][hapmap]
rs11729856	0.85[CHB][hapmap]
rs12508269	0.86[CHB][hapmap];0.94[GIH][hapmap];0.87[MKK][hapmap];1.00[AFR][1000 genomes]
rs12512468	1.00[CHB][hapmap]
rs17215694	0.86[GIH][hapmap]
rs7666067	0.83[GIH][hapmap]
rs7668568	0.81[GIH][hapmap]
rs7690059	0.81[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757946	chr4:103780705-104057321	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	esv2759270	chr4:103780705-104057321	ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	esv3429917	chr4:103915319-104207455	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv830021	chr4:103934454-104100588	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	esv3379179	chr4:104014003-104015951	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11726284	BDH2	cis	Thyroid	GTEx
rs11726284	BDH2	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:103998200-104020400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr4:103998400-104018800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr4:103998600-104020200	Weak transcription	Fetal Brain Male	brain
4	chr4:103998800-104019600	Weak transcription	NHEK	skin
5	chr4:103999000-104020200	Weak transcription	Hela-S3	cervix
6	chr4:104000200-104016400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr4:104000600-104016400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:104005400-104015600	Strong transcription	Skeletal Muscle Female	skeletal muscle
9	chr4:104005400-104016400	Strong transcription	Fetal Thymus	thymus
10	chr4:104007000-104017800	Weak transcription	Stomach Mucosa	stomach
11	chr4:104008000-104019400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr4:104009000-104020000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr4:104010200-104018000	Weak transcription	Colonic Mucosa	Colon
14	chr4:104010200-104019600	Weak transcription	Spleen	Spleen
15	chr4:104010600-104019200	Weak transcription	Esophagus	oesophagus
16	chr4:104011000-104016000	Weak transcription	Brain Anterior Caudate	brain
17	chr4:104011200-104019800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr4:104011800-104018600	Weak transcription	Small Intestine	intestine
19	chr4:104012000-104018800	Weak transcription	HSMMtube	muscle
20	chr4:104012000-104019000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr4:104012000-104019600	Weak transcription	HMEC	breast
22	chr4:104012200-104016200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr4:104012200-104018600	Weak transcription	Rectal Smooth Muscle	rectum
24	chr4:104012200-104019200	Weak transcription	Placenta	Placenta
25	chr4:104012200-104019200	Weak transcription	Psoas Muscle	Psoas
26	chr4:104012200-104019400	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr4:104012200-104019400	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr4:104012200-104019600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr4:104012200-104019800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr4:104012200-104019800	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr4:104012400-104016000	Weak transcription	HepG2	liver
32	chr4:104012400-104016200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr4:104012400-104016200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr4:104012400-104018000	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr4:104012400-104018400	Weak transcription	Pancreas	Pancrea
36	chr4:104012400-104018600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr4:104012400-104018600	Weak transcription	Gastric	stomach
38	chr4:104012400-104018600	Weak transcription	Stomach Smooth Muscle	stomach
39	chr4:104012400-104018800	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr4:104012400-104018800	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr4:104012400-104018800	Weak transcription	Right Ventricle	heart
42	chr4:104012400-104018800	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr4:104012400-104019200	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr4:104012400-104019200	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr4:104012400-104019200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr4:104012400-104019200	Weak transcription	Lung	lung
47	chr4:104012400-104019400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr4:104012400-104019400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr4:104012400-104019400	Weak transcription	Aorta	Aorta
50	chr4:104012400-104019400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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