Variant report

Variant	rs55699206
Chromosome Location	chr1:154958516-154958517
allele	A/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	chr1:154958297-154958642	HepG2	liver:	n/a	n/a
2	GABPA	chr1:154958428-154958662	K562	blood:	n/a	n/a
3	CEBPB	chr1:154958432-154958739	K562	blood:	n/a	chr1:154958570-154958581
4	POLR2A	chr1:154958401-154958605	H1-hESC	embryonic stem cell:	n/a	n/a
5	HDAC2	chr1:154958485-154958686	K562	blood:	n/a	n/a
6	POLR2A	chr1:154958502-154958517	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:154957675..154960042-chr1:155023053..155025053,2	MCF-7	breast:

Variant related genes	Relation type
FLAD1	TF binding region
ENSG00000143537	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1395561	1.00[AMR][1000 genomes]
rs16836381	1.00[AMR][1000 genomes]
rs57393028	1.00[AMR][1000 genomes]
rs6657775	1.00[AMR][1000 genomes]
rs6681539	1.00[AMR][1000 genomes]
rs6682049	1.00[AMR][1000 genomes]
rs6699247	1.00[AMR][1000 genomes]
rs74115892	1.00[AMR][1000 genomes]
rs74116261	1.00[AMR][1000 genomes]
rs74116267	1.00[AMR][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	nsv532579	chr1:154548165-155262692	Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	575 gene(s)	inside rSNPs	diseases
2	nsv872453	chr1:154904840-154995503	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	147 gene(s)	inside rSNPs	diseases
3	nsv872454	chr1:154904840-155079477	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154956600-154959600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr1:154956600-154959800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:154956600-154960000	Weak transcription	Esophagus	oesophagus
4	chr1:154956600-154960000	Weak transcription	Pancreas	Pancrea
5	chr1:154956600-154960400	Weak transcription	Aorta	Aorta
6	chr1:154956600-154960400	Weak transcription	Gastric	stomach
7	chr1:154956600-154960400	Weak transcription	Ovary	ovary
8	chr1:154956600-154965200	Weak transcription	Right Atrium	heart
9	chr1:154956800-154958600	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr1:154956800-154959000	Weak transcription	Primary T cells from cord blood	blood
11	chr1:154956800-154959200	Weak transcription	Fetal Muscle Trunk	muscle
12	chr1:154956800-154959400	Weak transcription	Fetal Intestine Large	intestine
13	chr1:154956800-154959400	Weak transcription	Thymus	Thymus
14	chr1:154956800-154959600	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr1:154956800-154959600	Weak transcription	Brain Hippocampus Middle	brain
16	chr1:154956800-154959600	Weak transcription	Lung	lung
17	chr1:154956800-154959600	Weak transcription	Stomach Smooth Muscle	stomach
18	chr1:154956800-154959800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr1:154956800-154959800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr1:154956800-154959800	Weak transcription	Brain Anterior Caudate	brain
21	chr1:154956800-154959800	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr1:154956800-154959800	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr1:154956800-154960000	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr1:154956800-154960000	Weak transcription	Left Ventricle	heart
25	chr1:154956800-154960000	Weak transcription	Right Ventricle	heart
26	chr1:154956800-154960200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr1:154956800-154960400	Weak transcription	Brain Substantia Nigra	brain
28	chr1:154956800-154960400	Weak transcription	Colonic Mucosa	Colon
29	chr1:154956800-154960400	Weak transcription	Rectal Smooth Muscle	rectum
30	chr1:154956800-154960400	Weak transcription	HSMMtube	muscle
31	chr1:154956800-154961000	Weak transcription	Psoas Muscle	Psoas
32	chr1:154956800-154961400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr1:154956800-154964400	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr1:154956800-154971200	Weak transcription	Fetal Heart	heart
35	chr1:154956800-154971400	Weak transcription	Fetal Kidney	kidney
36	chr1:154957000-154958600	Weak transcription	Fetal Muscle Leg	muscle
37	chr1:154957000-154958800	Weak transcription	A549	lung
38	chr1:154957000-154959000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr1:154957000-154959400	Weak transcription	Primary B cells from cord blood	blood
40	chr1:154957000-154959400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr1:154957000-154959400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr1:154957000-154959400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr1:154957000-154959600	Weak transcription	Brain Cingulate Gyrus	brain
44	chr1:154957000-154959600	Weak transcription	Brain Germinal Matrix	brain
45	chr1:154957000-154959600	Weak transcription	Fetal Brain Female	brain
46	chr1:154957000-154959600	Weak transcription	Hela-S3	cervix
47	chr1:154957000-154959800	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr1:154957000-154959800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr1:154957000-154959800	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr1:154957000-154959800	Weak transcription	Cortex derived primary cultured neurospheres	brain

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