Variant report

Variant	rs7665217
Chromosome Location	chr4:103999909-103999910
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:103939290..103941990-chr4:103997804..104000978,3	K562	blood:
2	chr4:103996451..103999149-chr4:103999311..104004368,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164037	Chromatin interaction
ENSG00000164038	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs13113099	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13149311	0.88[EUR][1000 genomes]
rs1481279	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7675837	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7691873	0.83[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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7665217	MANBA	Cis_1M	lymphoblastoid	RTeQTL
rs7665217	KRT8P46	cis	lung	GTEx
rs7665217	BDH2	Cis_1M	lymphoblastoid	RTeQTL
rs7665217	BDH2	cis	Thyroid	GTEx

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:103997800-104007800	Weak transcription	Spleen	Spleen
2	chr4:103998000-104007600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:103998200-104003200	Weak transcription	Fetal Kidney	kidney
4	chr4:103998200-104007000	Weak transcription	Lung	lung
5	chr4:103998200-104007200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr4:103998200-104007200	Weak transcription	Thymus	Thymus
7	chr4:103998200-104007600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr4:103998200-104007600	Weak transcription	Gastric	stomach
9	chr4:103998200-104007800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr4:103998200-104008000	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr4:103998200-104008000	Weak transcription	Placenta	Placenta
12	chr4:103998200-104010000	Weak transcription	Small Intestine	intestine
13	chr4:103998200-104011200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr4:103998200-104020400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr4:103998400-104000000	Weak transcription	Fetal Muscle Trunk	muscle
16	chr4:103998400-104000000	Weak transcription	Fetal Thymus	thymus
17	chr4:103998400-104000000	Weak transcription	Ovary	ovary
18	chr4:103998400-104000200	Weak transcription	Aorta	Aorta
19	chr4:103998400-104000200	Weak transcription	Fetal Muscle Leg	muscle
20	chr4:103998400-104000200	Weak transcription	Left Ventricle	heart
21	chr4:103998400-104000400	Weak transcription	Fetal Intestine Large	intestine
22	chr4:103998400-104000600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr4:103998400-104000800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr4:103998400-104000800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr4:103998400-104000800	Weak transcription	Stomach Smooth Muscle	stomach
26	chr4:103998400-104000800	Weak transcription	HSMMtube	muscle
27	chr4:103998400-104001800	Weak transcription	Primary hematopoietic stem cells	blood
28	chr4:103998400-104001800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr4:103998400-104001800	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr4:103998400-104002000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr4:103998400-104002200	Weak transcription	Fetal Stomach	stomach
32	chr4:103998400-104002400	Weak transcription	Fetal Intestine Small	intestine
33	chr4:103998400-104005400	Weak transcription	Brain Hippocampus Middle	brain
34	chr4:103998400-104005400	Weak transcription	Psoas Muscle	Psoas
35	chr4:103998400-104006400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr4:103998400-104006400	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr4:103998400-104006400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr4:103998400-104006400	Weak transcription	Brain Substantia Nigra	brain
39	chr4:103998400-104006800	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr4:103998400-104006800	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr4:103998400-104007000	Weak transcription	Right Ventricle	heart
42	chr4:103998400-104007800	Weak transcription	Pancreas	Pancrea
43	chr4:103998400-104008000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr4:103998400-104008000	Weak transcription	Colonic Mucosa	Colon
45	chr4:103998400-104008400	Weak transcription	Esophagus	oesophagus
46	chr4:103998400-104010800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr4:103998400-104018800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr4:103998600-104000000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr4:103998600-104000200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr4:103998600-104000200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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