Variant report

Variant	rs4149457
Chromosome Location	chr7:65705034-65705035
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:65704500..65706480-chr7:65713204..65714741,2	K562	blood:
2	chr7:65703885..65706000-chr7:65711760..65714704,2	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs4636083	0.82[ASN][1000 genomes]
rs6968534	0.84[ASN][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	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS 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	125 gene(s)	inside rSNPs	diseases
2	nsv1026559	chr7:65617368-66370805	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
3	nsv1028692	chr7:65673136-65751069	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv538908	chr7:65673136-65751069	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs4149457	RP4-756H11.3	cis	Artery Tibial	GTEx
rs4149457	RP4-756H11.3	cis	Thyroid	GTEx
rs4149457	RP4-756H11.3	cis	Adipose Subcutaneous	GTEx
rs4149457	RP4-756H11.3	cis	Skin Sun Exposed Lower leg	GTEx
rs4149457	RP4-756H11.3	cis	Esophagus Muscularis	GTEx
rs4149457	RP4-756H11.3	cis	Nerve Tibial	GTEx
rs4149457	RP4-756H11.3	cis	Heart Left Ventricle	GTEx
rs4149457	RP4-756H11.3	cis	lung	GTEx
rs4149457	RP4-756H11.3	cis	Esophagus Mucosa	GTEx

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65672200-65723400	Weak transcription	Right Atrium	heart
2	chr7:65676000-65716800	Weak transcription	Primary B cells from cord blood	blood
3	chr7:65686800-65715400	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr7:65689600-65715800	Weak transcription	Brain Cingulate Gyrus	brain
5	chr7:65695800-65709400	Weak transcription	Psoas Muscle	Psoas
6	chr7:65697000-65705400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr7:65697000-65705400	Weak transcription	Fetal Stomach	stomach
8	chr7:65699000-65712400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr7:65701600-65729200	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr7:65702200-65705200	Weak transcription	HMEC	breast
11	chr7:65702200-65705400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr7:65702200-65705400	Weak transcription	NHEK	skin
13	chr7:65702200-65705600	Weak transcription	Esophagus	oesophagus
14	chr7:65702200-65705600	Weak transcription	Right Ventricle	heart
15	chr7:65702200-65705600	Weak transcription	Spleen	Spleen
16	chr7:65702200-65711200	Weak transcription	Brain Anterior Caudate	brain
17	chr7:65702400-65705400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr7:65702400-65705400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr7:65702400-65723600	Weak transcription	Gastric	stomach
20	chr7:65702800-65705200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr7:65702800-65705400	Weak transcription	Left Ventricle	heart
22	chr7:65702800-65705400	Weak transcription	Lung	lung
23	chr7:65703000-65715800	Weak transcription	Fetal Muscle Trunk	muscle
24	chr7:65703800-65705400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr7:65703800-65705400	Weak transcription	Primary B cells from peripheral blood	blood
26	chr7:65703800-65716600	Weak transcription	Primary hematopoietic stem cells	blood
27	chr7:65704000-65706000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr7:65704000-65712800	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr7:65704000-65726800	Weak transcription	HSMM	muscle
30	chr7:65704200-65705400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr7:65704200-65707000	Weak transcription	Colon Smooth Muscle	Colon
32	chr7:65704200-65709600	Weak transcription	A549	lung
33	chr7:65704200-65711400	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr7:65704200-65711600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr7:65704200-65715200	Weak transcription	Fetal Muscle Leg	muscle
36	chr7:65704200-65729200	Weak transcription	Aorta	Aorta
37	chr7:65704200-65731200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr7:65704400-65705200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr7:65704400-65705200	Weak transcription	NHDF-Ad	bronchial
40	chr7:65704400-65705400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr7:65704400-65705400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr7:65704400-65705400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr7:65704400-65705400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr7:65704400-65705400	Weak transcription	Liver	Liver
45	chr7:65704400-65705400	Weak transcription	Ovary	ovary
46	chr7:65704400-65709400	Weak transcription	Stomach Mucosa	stomach
47	chr7:65704400-65710200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr7:65704400-65720200	Weak transcription	HSMMtube	muscle
49	chr7:65704400-65721800	Weak transcription	Fetal Intestine Small	intestine
50	chr7:65704400-65746800	Weak transcription	Pancreas	Pancrea

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