Variant report

Variant	rs55688337
Chromosome Location	chr7:50824329-50824330
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:50824008-50824690	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr7:50821738-50826362	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:50823624..50825816-chr7:50859906..50861742,2	K562	blood:
2	chr7:50820026..50825124-chr7:50858182..50862797,5	K562	blood:

Variant related genes	Relation type
GRB10	TF binding region
ENSG00000106070	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12112744	1.00[AMR][1000 genomes]
rs6969838	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73697738	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50798800-50824800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr7:50798800-50832400	Weak transcription	HSMM	muscle
3	chr7:50798800-50837200	Weak transcription	HSMMtube	muscle
4	chr7:50807800-50834800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr7:50808000-50827200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr7:50808000-50829400	Weak transcription	Small Intestine	intestine
7	chr7:50808000-50832400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr7:50808000-50835800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr7:50808200-50834200	Weak transcription	Brain Angular Gyrus	brain
10	chr7:50810800-50829600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr7:50810800-50829600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr7:50811000-50829400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr7:50812600-50828200	Weak transcription	K562	blood
14	chr7:50812600-50829400	Weak transcription	NHDF-Ad	bronchial
15	chr7:50813800-50824600	Weak transcription	Fetal Muscle Leg	muscle
16	chr7:50814400-50824600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr7:50814400-50838800	Weak transcription	Adipose Nuclei	Adipose
18	chr7:50814800-50828400	Weak transcription	Fetal Brain Male	brain
19	chr7:50815000-50834400	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr7:50816000-50824800	Weak transcription	NHLF	lung
21	chr7:50816000-50825600	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr7:50816000-50834200	Weak transcription	A549	lung
23	chr7:50816200-50829400	Weak transcription	Aorta	Aorta
24	chr7:50816200-50831400	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr7:50816200-50834000	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr7:50816200-50849600	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr7:50816800-50833800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr7:50817400-50825800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr7:50819200-50825800	Weak transcription	Brain Cingulate Gyrus	brain
30	chr7:50819400-50825400	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr7:50819400-50831800	Weak transcription	Brain Hippocampus Middle	brain
32	chr7:50819600-50833400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr7:50819800-50824600	Genic enhancers	Pancreas	Pancrea
34	chr7:50820200-50824400	Enhancers	Right Atrium	heart
35	chr7:50820200-50824800	Genic enhancers	Right Ventricle	heart
36	chr7:50820200-50825000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr7:50820200-50843000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr7:50820600-50825400	Genic enhancers	Cortex derived primary cultured neurospheres	brain
39	chr7:50820600-50827600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr7:50821200-50824400	Enhancers	Colon Smooth Muscle	Colon
41	chr7:50821200-50825400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr7:50821400-50824400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr7:50821400-50826800	Enhancers	Liver	Liver
44	chr7:50821600-50824400	Genic enhancers	Gastric	stomach
45	chr7:50822000-50849800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr7:50822200-50826600	Enhancers	HepG2	liver
47	chr7:50822200-50827800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr7:50822200-50832200	Weak transcription	Fetal Muscle Trunk	muscle
49	chr7:50822200-50835000	Weak transcription	Esophagus	oesophagus
50	chr7:50822400-50834200	Weak transcription	HUES6 Cell Line	embryonic stem cell

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