Variant report

Variant	rs7688014
Chromosome Location	chr4:103975060-103975061
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1080081	0.80[AMR][1000 genomes]
rs11938650	0.81[AMR][1000 genomes]
rs17215211	0.80[AMR][1000 genomes]
rs4699049	0.80[AMR][1000 genomes]

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	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

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs7688014	KRT8P46	cis	lung	GTEx
rs7688014	CISD2	Cis_1M	lymphoblastoid	RTeQTL
rs7688014	CISD2	cis	Nerve Tibial	GTEx
rs7688014	CISD2	cis	Skin Sun Exposed Lower leg	GTEx
rs7688014	BDH2	cis	lung	GTEx
rs7688014	BDH2	cis	Artery Tibial	GTEx
rs7688014	BDH2	cis	Adipose Subcutaneous	GTEx
rs7688014	BDH2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:103941400-103975200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:103941400-103989400	Weak transcription	NH-A	brain
3	chr4:103941400-103996600	Weak transcription	Lung	lung
4	chr4:103941600-103989000	Weak transcription	HMEC	breast
5	chr4:103941800-103994600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr4:103942000-103994400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr4:103942000-103995200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr4:103947800-103996000	Weak transcription	Brain Angular Gyrus	brain
9	chr4:103952400-103994600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr4:103952800-103996600	Weak transcription	Fetal Stomach	stomach
11	chr4:103954000-103996200	Weak transcription	Gastric	stomach
12	chr4:103957600-103995400	Weak transcription	Ovary	ovary
13	chr4:103960800-103991200	Weak transcription	Psoas Muscle	Psoas
14	chr4:103962800-103995000	Weak transcription	Small Intestine	intestine
15	chr4:103963000-103975200	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr4:103963600-103996600	Weak transcription	Pancreas	Pancrea
17	chr4:103965800-103994800	Weak transcription	K562	blood
18	chr4:103966000-103987000	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr4:103966000-103987000	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr4:103966000-103995400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr4:103966000-103996600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr4:103966600-103996600	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr4:103968400-103996200	Weak transcription	Fetal Muscle Leg	muscle
24	chr4:103970000-103989000	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr4:103970200-103983000	Weak transcription	Primary hematopoietic stem cells	blood
26	chr4:103970200-103995000	Weak transcription	Fetal Brain Male	brain
27	chr4:103970200-103996600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr4:103970400-103984000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr4:103970400-103987000	Weak transcription	HSMM	muscle
30	chr4:103970400-103996600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr4:103970600-103996000	Weak transcription	Stomach Smooth Muscle	stomach
32	chr4:103970600-103996200	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr4:103970800-103982000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr4:103970800-103982600	Weak transcription	Fetal Brain Female	brain
35	chr4:103970800-103987200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr4:103970800-103995000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr4:103970800-103995400	Weak transcription	Primary B cells from cord blood	blood
38	chr4:103970800-103996000	Weak transcription	Primary T cells from cord blood	blood
39	chr4:103970800-103996600	Weak transcription	Adipose Nuclei	Adipose
40	chr4:103971000-103981400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr4:103971000-103985200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr4:103971000-103987000	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr4:103971000-103996000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr4:103971000-103996200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr4:103971200-103987200	Weak transcription	Brain Germinal Matrix	brain
46	chr4:103971200-103995400	Weak transcription	Brain Anterior Caudate	brain
47	chr4:103971200-103996200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr4:103971200-103996200	Weak transcription	Left Ventricle	heart
49	chr4:103971400-103984800	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr4:103971400-103986000	Weak transcription	HUVEC	blood vessel

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