Variant report

Variant	rs28867847
Chromosome Location	chr7:66469806-66469807
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12534156	0.97[ASN][1000 genomes]
rs12534327	0.80[ASN][1000 genomes]
rs12538152	0.97[ASN][1000 genomes]
rs12538724	0.97[ASN][1000 genomes]
rs12539604	0.97[ASN][1000 genomes]
rs35175278	0.92[AFR][1000 genomes]
rs4717335	0.80[ASN][1000 genomes]
rs4718438	0.85[ASN][1000 genomes]
rs62466591	0.97[ASN][1000 genomes]
rs62466592	0.97[ASN][1000 genomes]
rs62466594	0.97[ASN][1000 genomes]
rs62466596	0.97[ASN][1000 genomes]
rs62466612	0.97[ASN][1000 genomes]
rs62466613	0.97[ASN][1000 genomes]
rs62466616	0.97[ASN][1000 genomes]
rs62466618	0.94[ASN][1000 genomes]
rs62466620	0.91[ASN][1000 genomes]
rs62466625	0.94[ASN][1000 genomes]
rs62466629	0.80[ASN][1000 genomes]
rs62466630	0.80[ASN][1000 genomes]
rs62468382	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758118	chr7:66401430-66859253	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	esv2759535	chr7:66401430-66859253	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv1032575	chr7:66432853-66576034	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs28867847	TYW1	cis	Muscle Skeletal	GTEx
rs28867847	TYW1	cis	Esophagus Mucosa	GTEx

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66462200-66470400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:66462200-66482600	Weak transcription	Aorta	Aorta
3	chr7:66462400-66470600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr7:66462400-66470600	Weak transcription	Placenta	Placenta
5	chr7:66462400-66470600	Weak transcription	Ovary	ovary
6	chr7:66462400-66470800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr7:66462400-66470800	Weak transcription	Lung	lung
8	chr7:66462400-66471000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr7:66462400-66472200	Weak transcription	Brain Cingulate Gyrus	brain
10	chr7:66462400-66472200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr7:66462400-66475400	Weak transcription	Colon Smooth Muscle	Colon
12	chr7:66462400-66475800	Weak transcription	Right Ventricle	heart
13	chr7:66462400-66476000	Weak transcription	Colonic Mucosa	Colon
14	chr7:66462400-66476400	Weak transcription	Gastric	stomach
15	chr7:66462400-66478400	Weak transcription	Pancreas	Pancrea
16	chr7:66462400-66479400	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr7:66462400-66482200	Weak transcription	Small Intestine	intestine
18	chr7:66462400-66482600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr7:66462400-66490000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:66462400-66496000	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr7:66462400-66500200	Weak transcription	Psoas Muscle	Psoas
22	chr7:66462400-66508000	Weak transcription	Stomach Mucosa	stomach
23	chr7:66462600-66470400	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr7:66462600-66470400	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr7:66462600-66470600	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr7:66462600-66470600	Weak transcription	Brain Germinal Matrix	brain
27	chr7:66462600-66470600	Weak transcription	Fetal Thymus	thymus
28	chr7:66462600-66470600	Weak transcription	A549	lung
29	chr7:66462600-66470800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr7:66462600-66470800	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr7:66462600-66471000	Weak transcription	HSMM	muscle
32	chr7:66462600-66471200	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr7:66462600-66471800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr7:66462600-66472000	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr7:66462600-66473000	Weak transcription	HSMMtube	muscle
36	chr7:66462600-66474000	Weak transcription	Osteobl	bone
37	chr7:66462600-66474200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr7:66462600-66474200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr7:66462600-66474400	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr7:66462600-66474400	Weak transcription	Brain Anterior Caudate	brain
41	chr7:66462600-66475400	Weak transcription	Brain Hippocampus Middle	brain
42	chr7:66462600-66475800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr7:66462600-66475800	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr7:66462600-66476000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr7:66462600-66476400	Weak transcription	Brain Angular Gyrus	brain
46	chr7:66462600-66476400	Weak transcription	NHLF	lung
47	chr7:66462600-66479000	Weak transcription	Fetal Brain Female	brain
48	chr7:66462600-66479200	Weak transcription	Fetal Kidney	kidney
49	chr7:66462600-66480600	Weak transcription	Rectal Smooth Muscle	rectum
50	chr7:66462600-66482800	Weak transcription	NHEK	skin

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