Variant report

Variant	rs2240633
Chromosome Location	chr19:44128437-44128438
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr19:44127980-44128595	K562	blood:	n/a	n/a
2	POLR2A	chr19:44128295-44128466	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr19:44128055-44128461	K562	blood:	n/a	n/a
4	RCOR1	chr19:44127959-44128710	K562	blood:	n/a	n/a
5	ARID3A	chr19:44127971-44128464	K562	blood:	n/a	n/a
6	POLR2A	chr19:44126833-44129949	K562	blood:	n/a	n/a
7	BHLHE40	chr19:44128362-44128462	K562	blood:	n/a	n/a
8	POLR2A	chr19:44127934-44128863	HepG2	liver:	n/a	n/a
9	IRF1	chr19:44127963-44128462	K562	blood:	n/a	chr19:44128200-44128214 chr19:44128171-44128185 chr19:44128111-44128125 chr19:44128129-44128143
10	TBP	chr19:44127927-44128601	K562	blood:	n/a	n/a
11	POLR2A	chr19:44128037-44128476	ECC-1	luminal epithelium:	n/a	n/a
12	POLR2A	chr19:44128253-44128453	ProgFib	skin:	n/a	n/a
13	POLR2A	chr19:44128029-44128521	Hela-S3	cervix:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:44097500..44104541-chr19:44116930..44130620,31	K562	blood:
2	chr19:44097777..44104240-chr19:44121602..44130880,30	K562	blood:
3	chr19:44118551..44131201-chr19:44135615..44147023,20	K562	blood:
4	chr19:44128150..44129685-chr19:44154688..44156767,2	K562	blood:
5	chr19:44034271..44036948-chr19:44127770..44129771,2	K562	blood:
6	chr19:44126234..44128942-chr19:44160943..44162925,2	K562	blood:
7	chr19:44103229..44104099-chr19:44128272..44129263,2	K562	blood:

No data

Variant related genes	Relation type
ZNF428	TF binding region
ENSG00000226763	Chromatin interaction
ENSG00000124444	Chromatin interaction
ENSG00000011422	Chromatin interaction
ENSG00000167378	Chromatin interaction
ENSG00000105767	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs17655646	0.86[CEU][hapmap]
rs304719	1.00[CEU][hapmap];0.98[GIH][hapmap];0.88[MEX][hapmap];0.97[TSI][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs304720	1.00[CEU][hapmap];0.98[GIH][hapmap];0.97[TSI][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs304722	1.00[CEU][hapmap];0.83[CHB][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs304723	1.00[CEU][hapmap];0.98[GIH][hapmap];0.82[MEX][hapmap];0.97[TSI][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs304726	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34521657	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34637472	1.00[CEU][hapmap];0.83[CHB][hapmap];0.95[GIH][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35346236	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs365063	1.00[CEU][hapmap];0.83[CHB][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3803910	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs427115	1.00[CEU][hapmap];0.82[MEX][hapmap];0.97[TSI][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4803646	0.82[CEU][hapmap]
rs4803647	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7245651	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8101956	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.83[YRI][hapmap];0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]

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	nsv532821	chr19:43842383-44357315	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv833839	chr19:44099813-44272299	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2240633	ELSPBP1	cis	cerebellum	SCAN
rs2240633	STRN4	cis	cerebellum	SCAN
rs2240633	IZUMO2	cis	parietal	SCAN
rs2240633	PRRG2	cis	cerebellum	SCAN

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44124600-44129000	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr19:44124600-44129200	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr19:44124600-44130200	Weak transcription	Esophagus	oesophagus
4	chr19:44124600-44143400	Weak transcription	Right Atrium	heart
5	chr19:44124800-44128800	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr19:44124800-44128800	Weak transcription	Primary hematopoietic stem cells	blood
7	chr19:44124800-44128800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr19:44124800-44128800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr19:44124800-44129000	Weak transcription	Primary B cells from cord blood	blood
10	chr19:44124800-44129000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr19:44124800-44129600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr19:44124800-44129800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr19:44124800-44131200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr19:44124800-44138400	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr19:44124800-44138800	Weak transcription	Rectal Smooth Muscle	rectum
16	chr19:44124800-44139000	Weak transcription	Colon Smooth Muscle	Colon
17	chr19:44125000-44128600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr19:44125000-44128800	Weak transcription	Primary B cells from peripheral blood	blood
19	chr19:44125000-44128800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr19:44125000-44128800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr19:44125000-44128800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr19:44125000-44128800	Weak transcription	Fetal Muscle Trunk	muscle
23	chr19:44125000-44129000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr19:44125000-44129000	Weak transcription	Small Intestine	intestine
25	chr19:44125000-44129200	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr19:44125000-44129200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr19:44125000-44130400	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr19:44125000-44130400	Weak transcription	Gastric	stomach
29	chr19:44125000-44130400	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr19:44125000-44130800	Weak transcription	Stomach Smooth Muscle	stomach
31	chr19:44125000-44131000	Weak transcription	Fetal Muscle Leg	muscle
32	chr19:44125000-44139200	Weak transcription	Pancreas	Pancrea
33	chr19:44125200-44128600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr19:44125200-44128600	Weak transcription	Fetal Thymus	thymus
35	chr19:44125200-44128800	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr19:44125200-44128800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr19:44125200-44128800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr19:44125200-44128800	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr19:44125200-44128800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr19:44125200-44128800	Weak transcription	Duodenum Mucosa	Duodenum
41	chr19:44125200-44128800	Weak transcription	Thymus	Thymus
42	chr19:44125200-44129400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr19:44125200-44129400	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr19:44125200-44130200	Weak transcription	Right Ventricle	heart
45	chr19:44125200-44130200	Weak transcription	Spleen	Spleen
46	chr19:44125200-44130400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr19:44125200-44133000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr19:44125200-44137400	Weak transcription	HepG2	liver
49	chr19:44125400-44128800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr19:44125600-44133200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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