Variant report

Variant	rs529321256
Chromosome Location	chr1:67479606-67479607
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:67467282..67470701-chr1:67477543..67480153,4	K562	blood:
2	chr1:67472688..67474610-chr1:67477630..67479689,2	K562	blood:

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	nsv461751	chr1:67479598-67689036	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv546445	chr1:67479598-67689036	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:67441600-67485200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr1:67445400-67483800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr1:67448800-67484200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr1:67449400-67501800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr1:67450600-67485200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr1:67451200-67506200	Weak transcription	Hela-S3	cervix
7	chr1:67453200-67484000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr1:67454800-67483200	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr1:67454800-67484200	Weak transcription	NHDF-Ad	bronchial
10	chr1:67455000-67484000	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr1:67455000-67484200	Weak transcription	GM12878-XiMat	blood
12	chr1:67455200-67495000	Weak transcription	Small Intestine	intestine
13	chr1:67455400-67509400	Weak transcription	Spleen	Spleen
14	chr1:67455600-67484200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr1:67455800-67485600	Weak transcription	HMEC	breast
16	chr1:67456400-67484800	Weak transcription	HUVEC	blood vessel
17	chr1:67460000-67485200	Weak transcription	Esophagus	oesophagus
18	chr1:67462000-67480400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:67462200-67484400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr1:67462400-67484200	Weak transcription	Ovary	ovary
21	chr1:67462400-67508400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr1:67465000-67484200	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr1:67465200-67502400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr1:67465200-67506400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr1:67466800-67484200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr1:67468000-67484400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr1:67468000-67485600	Weak transcription	Aorta	Aorta
28	chr1:67468600-67501800	Weak transcription	Psoas Muscle	Psoas
29	chr1:67469000-67484400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr1:67469200-67483200	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr1:67469200-67484400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr1:67469400-67485000	Weak transcription	HSMMtube	muscle
33	chr1:67469600-67484200	Weak transcription	Stomach Smooth Muscle	stomach
34	chr1:67470000-67483600	Weak transcription	NH-A	brain
35	chr1:67470800-67483800	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr1:67470800-67505400	Weak transcription	Gastric	stomach
37	chr1:67471200-67481200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr1:67471200-67484400	Weak transcription	Osteobl	bone
39	chr1:67471200-67486600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr1:67471400-67483400	Weak transcription	Brain Anterior Caudate	brain
41	chr1:67471600-67481000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr1:67471600-67484200	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr1:67471800-67479800	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr1:67471800-67484200	Weak transcription	Brain Angular Gyrus	brain
45	chr1:67471800-67484200	Weak transcription	Fetal Heart	heart
46	chr1:67471800-67484200	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr1:67471800-67485200	Weak transcription	Pancreas	Pancrea
48	chr1:67471800-67485400	Weak transcription	Right Ventricle	heart
49	chr1:67471800-67503800	Weak transcription	Brain Substantia Nigra	brain
50	chr1:67472200-67484200	Weak transcription	Brain Hippocampus Middle	brain

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