Variant report

Variant	rs12021502
Chromosome Location	chr1:78168758-78168759
allele	A/C
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	NFATC1	chr1:78168376-78168806	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:78168122..78170509-chr1:78172937..78175647,4	K562	blood:
2	chr1:78148517..78150728-chr1:78168387..78170425,2	K562	blood:

Variant related genes	Relation type
USP33	TF binding region
ENSG00000036549	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10873956	1.00[CEU][hapmap]
rs1166704	1.00[CEU][hapmap]
rs1166706	1.00[CEU][hapmap]
rs1166709	1.00[CEU][hapmap]
rs1539737	1.00[CEU][hapmap]
rs17382879	1.00[AFR][1000 genomes]
rs17382996	1.00[AFR][1000 genomes]
rs1960060	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2154138	1.00[CEU][hapmap]
rs2274124	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55947434	1.00[AFR][1000 genomes]
rs61729829	1.00[AFR][1000 genomes]
rs7417104	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470719	chr1:77774413-78269207	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv546591	chr1:77774413-78269207	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv870709	chr1:78016517-78198322	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv830303	chr1:78090824-78308765	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	esv1794082	chr1:78102426-78492221	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
6	esv1796958	chr1:78138955-78267421	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
7	esv1798160	chr1:78149941-78267421	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	esv3434340	chr1:78153780-78607103	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	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	chr1:78149600-78175000	Weak transcription	Gastric	stomach
2	chr1:78149600-78177800	Weak transcription	Spleen	Spleen
3	chr1:78149800-78171800	Weak transcription	Fetal Brain Male	brain
4	chr1:78149800-78173000	Weak transcription	Colonic Mucosa	Colon
5	chr1:78149800-78173800	Weak transcription	Aorta	Aorta
6	chr1:78149800-78178000	Weak transcription	Small Intestine	intestine
7	chr1:78150000-78172800	Weak transcription	Colon Smooth Muscle	Colon
8	chr1:78150000-78173000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr1:78150000-78173000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr1:78150000-78173600	Weak transcription	Psoas Muscle	Psoas
11	chr1:78150000-78174000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr1:78150000-78175600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr1:78150200-78170400	Weak transcription	HUVEC	blood vessel
14	chr1:78150200-78172600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr1:78150200-78173400	Weak transcription	HMEC	breast
16	chr1:78150200-78175600	Weak transcription	Brain Substantia Nigra	brain
17	chr1:78150400-78172400	Weak transcription	Hela-S3	cervix
18	chr1:78150400-78174000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr1:78150800-78170400	Weak transcription	K562	blood
20	chr1:78151200-78172400	Weak transcription	A549	lung
21	chr1:78151400-78172400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr1:78153400-78175600	Weak transcription	HepG2	liver
23	chr1:78153600-78173600	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr1:78153800-78173000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr1:78153800-78173000	Weak transcription	Rectal Smooth Muscle	rectum
26	chr1:78153800-78173800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr1:78153800-78173800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr1:78153800-78174600	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr1:78153800-78175400	Weak transcription	NHEK	skin
30	chr1:78153800-78177000	Weak transcription	Right Ventricle	heart
31	chr1:78153800-78178000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr1:78154000-78173600	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr1:78154000-78173800	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr1:78154200-78172800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr1:78155800-78178000	Weak transcription	Pancreas	Pancrea
36	chr1:78158200-78172600	Weak transcription	Brain Hippocampus Middle	brain
37	chr1:78159200-78172800	Weak transcription	NH-A	brain
38	chr1:78159400-78171400	Weak transcription	Primary hematopoietic stem cells	blood
39	chr1:78161000-78187400	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr1:78161200-78172200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr1:78161200-78172200	Weak transcription	NHLF	lung
42	chr1:78161600-78178000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr1:78161800-78172800	Weak transcription	Osteobl	bone
44	chr1:78162600-78173000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr1:78162600-78174600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr1:78163000-78172600	Weak transcription	NHDF-Ad	bronchial
47	chr1:78163200-78172000	Weak transcription	Primary T cells from cord blood	blood
48	chr1:78163400-78172600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr1:78163600-78171400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr1:78163600-78172200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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