Variant report

Variant	rs74073429
Chromosome Location	chr1:45337349-45337350
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:45328286..45329887-chr1:45336731..45339196,2	K562	blood:
2	chr1:45336787..45338453-chr1:45340209..45342947,3	K562	blood:
3	chr1:45284200..45286987-chr1:45336197..45338336,3	K562	blood:
4	chr1:45330599..45332151-chr1:45336509..45338942,2	K562	blood:

Variant related genes	Relation type
ENSG00000202444	Chromatin interaction
ENSG00000070785	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs56008713	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7541463	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014894	chr1:45139123-45397943	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	414 gene(s)	inside rSNPs	diseases
2	nsv529677	chr1:45179509-45748571	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	424 gene(s)	inside rSNPs	diseases
3	nsv1002026	chr1:45187594-45758048	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	386 gene(s)	inside rSNPs	diseases
4	nsv915644	chr1:45282802-45696079	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45308800-45345400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr1:45309200-45337800	Weak transcription	Psoas Muscle	Psoas
3	chr1:45309200-45343000	Weak transcription	Esophagus	oesophagus
4	chr1:45309200-45345200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr1:45309200-45360600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr1:45309400-45338200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr1:45309400-45339600	Weak transcription	Primary hematopoietic stem cells	blood
8	chr1:45309400-45340000	Weak transcription	NHLF	lung
9	chr1:45309400-45340400	Weak transcription	Rectal Smooth Muscle	rectum
10	chr1:45309400-45343000	Weak transcription	Colonic Mucosa	Colon
11	chr1:45309400-45350400	Weak transcription	HUVEC	blood vessel
12	chr1:45309600-45343000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr1:45309600-45352400	Weak transcription	Fetal Heart	heart
14	chr1:45309600-45354200	Weak transcription	Fetal Brain Male	brain
15	chr1:45313400-45343600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr1:45313400-45360200	Weak transcription	Hela-S3	cervix
17	chr1:45314600-45349000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr1:45315000-45340200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr1:45315000-45341000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:45315000-45349000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr1:45315200-45345000	Weak transcription	Right Ventricle	heart
22	chr1:45315600-45343000	Weak transcription	Brain Substantia Nigra	brain
23	chr1:45315800-45337600	Weak transcription	HepG2	liver
24	chr1:45316000-45337400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr1:45316000-45341000	Weak transcription	Thymus	Thymus
26	chr1:45316000-45349000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr1:45316600-45351800	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr1:45316800-45340400	Weak transcription	Fetal Lung	lung
29	chr1:45316800-45340600	Weak transcription	Lung	lung
30	chr1:45317800-45355600	Weak transcription	NHDF-Ad	bronchial
31	chr1:45320000-45348800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr1:45322000-45340200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr1:45322000-45350400	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr1:45322600-45360000	Weak transcription	Small Intestine	intestine
35	chr1:45322800-45343400	Weak transcription	Brain Germinal Matrix	brain
36	chr1:45323000-45337800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr1:45325000-45337600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr1:45325000-45337600	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr1:45325000-45341000	Weak transcription	Pancreas	Pancrea
40	chr1:45326000-45346600	Weak transcription	HMEC	breast
41	chr1:45326200-45340000	Weak transcription	NH-A	brain
42	chr1:45326600-45343600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr1:45326800-45349000	Weak transcription	GM12878-XiMat	blood
44	chr1:45326800-45350400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr1:45327000-45338400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr1:45327000-45341400	Strong transcription	Liver	Liver
47	chr1:45327200-45340000	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr1:45327200-45341000	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr1:45327400-45338200	Weak transcription	Brain Anterior Caudate	brain
50	chr1:45327800-45343400	Weak transcription	HSMMtube	muscle

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