Variant report

Variant	rs369432278
Chromosome Location	chr1:211499537-211499538
allele	-/TAAAA
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	chr1:211499364-211502137	GM12892	blood:	n/a	n/a
2	MTA3	chr1:211499362-211500172	GM12878	blood:	n/a	n/a
3	POLR2A	chr1:211499432-211502951	GM12878	blood:	n/a	n/a
4	YY1	chr1:211499520-211499951	GM12878	blood:	n/a	n/a
5	PML	chr1:211499444-211501292	GM12878	blood:	n/a	n/a
6	CBX3	chr1:211499466-211500404	K562	blood:	n/a	n/a
7	MXI1	chr1:211499519-211500696	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:211499136..211502907-chr1:211554932..211557555,4	K562	blood:
2	chr1:211429664..211435180-chr1:211498779..211503937,6	K562	blood:
3	chr1:211429664..211434083-chr1:211498779..211503937,6	K562	blood:

Variant related genes	Relation type
TRAF5	TF binding region
ENSG00000153363	Chromatin interaction
ENSG00000117625	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3374121	chr1:211499154-211501702	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	esv3347623	chr1:211499429-211501377	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211461200-211499600	Weak transcription	Psoas Muscle	Psoas
2	chr1:211461400-211499600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr1:211461600-211499600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:211478600-211499800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr1:211483600-211499600	Weak transcription	Fetal Heart	heart
6	chr1:211486400-211500200	Weak transcription	Small Intestine	intestine
7	chr1:211487200-211499600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:211487200-211499600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr1:211487200-211499600	Weak transcription	Brain Angular Gyrus	brain
10	chr1:211487200-211499600	Weak transcription	Brain Cingulate Gyrus	brain
11	chr1:211487200-211499600	Weak transcription	Fetal Intestine Small	intestine
12	chr1:211487200-211499600	Weak transcription	Gastric	stomach
13	chr1:211487200-211499600	Weak transcription	Left Ventricle	heart
14	chr1:211487200-211499600	Weak transcription	Lung	lung
15	chr1:211487200-211499600	Weak transcription	Pancreas	Pancrea
16	chr1:211487200-211499800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr1:211487200-211499800	Weak transcription	Aorta	Aorta
18	chr1:211487200-211499800	Weak transcription	Esophagus	oesophagus
19	chr1:211487200-211499800	Weak transcription	Ovary	ovary
20	chr1:211487200-211499800	Weak transcription	Right Ventricle	heart
21	chr1:211487200-211500200	Weak transcription	Spleen	Spleen
22	chr1:211487400-211499600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr1:211487400-211499600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr1:211487400-211499600	Weak transcription	Brain Anterior Caudate	brain
25	chr1:211487400-211499600	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr1:211487400-211499600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr1:211487400-211499800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr1:211487400-211499800	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr1:211487400-211499800	Weak transcription	HSMMtube	muscle
30	chr1:211487600-211499600	Weak transcription	Brain Hippocampus Middle	brain
31	chr1:211487600-211499600	Weak transcription	NHLF	lung
32	chr1:211488000-211499600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr1:211488000-211499600	Weak transcription	Brain Substantia Nigra	brain
34	chr1:211488200-211499600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr1:211488600-211499600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr1:211488600-211499600	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr1:211488600-211499600	Weak transcription	HUVEC	blood vessel
38	chr1:211489200-211499600	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr1:211489200-211499600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr1:211489400-211499600	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr1:211489400-211499600	Weak transcription	Liver	Liver
42	chr1:211489400-211499600	Weak transcription	Colon Smooth Muscle	Colon
43	chr1:211489400-211499600	Weak transcription	Duodenum Mucosa	Duodenum
44	chr1:211489600-211499600	Weak transcription	NHEK	skin
45	chr1:211490000-211499600	Weak transcription	Fetal Brain Female	brain
46	chr1:211490000-211499600	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr1:211490000-211499600	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr1:211490000-211499600	Weak transcription	A549	lung
49	chr1:211490000-211499600	Weak transcription	HMEC	breast
50	chr1:211490000-211499600	Weak transcription	NH-A	brain

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