Variant report

Variant	rs848526
Chromosome Location	chr2:36739553-36739554
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:48)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:48 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:36739013-36739607	U87	brain:	n/a	n/a
2	PML	chr2:36739331-36739682	K562	blood:	n/a	n/a
3	POLR2A	chr2:36739435-36739648	A549	lung:	n/a	n/a
4	RUNX3	chr2:36739458-36739750	GM12878	blood:	n/a	n/a
5	JUND	chr2:36739211-36739722	K562	blood:	n/a	n/a
6	POLR2A	chr2:36739529-36739736	ProgFib	skin:	n/a	n/a
7	ZMIZ1	chr2:36739355-36739690	K562	blood:	n/a	n/a
8	GATA2	chr2:36739278-36739658	K562	blood:	n/a	n/a
9	CTCF	chr2:36739520-36739670	HBMEC	blood vessel:	n/a	n/a
10	STAT5A	chr2:36739283-36739637	K562	blood:	n/a	n/a
11	ATF1	chr2:36739338-36739738	K562	blood:	n/a	n/a
12	POLR2A	chr2:36738758-36739715	A549	lung:	n/a	n/a
13	POLR2A	chr2:36739158-36740438	HUVEC	blood vessel:	n/a	n/a
14	CBX3	chr2:36739314-36739691	K562	blood:	n/a	n/a
15	MYC	chr2:36739408-36739685	K562	blood:	n/a	n/a
16	POLR2A	chr2:36739516-36739991	HUVEC	blood vessel:	n/a	n/a
17	POLR2A	chr2:36739231-36739566	HUVEC	blood vessel:	n/a	n/a
18	RUNX3	chr2:36739437-36739761	GM12878	blood:	n/a	n/a
19	CCNT2	chr2:36739333-36739626	K562	blood:	n/a	n/a
20	REST	chr2:36739411-36739627	K562	blood:	n/a	n/a
21	TEAD4	chr2:36739310-36739738	K562	blood:	n/a	n/a
22	MAX	chr2:36739359-36739670	K562	blood:	n/a	n/a
23	UBTF	chr2:36739449-36739662	K562	blood:	n/a	n/a
24	RCOR1	chr2:36739375-36739752	K562	blood:	n/a	n/a
25	TAL1	chr2:36739324-36739782	K562	blood:	n/a	n/a
26	RCOR1	chr2:36739344-36739693	K562	blood:	n/a	n/a
27	ARID3A	chr2:36739369-36739596	K562	blood:	n/a	chr2:36739399-36739415
28	CTCF	chr2:36739353-36739627	K562	blood:	n/a	n/a
29	TBP	chr2:36739468-36739602	K562	blood:	n/a	n/a
30	POLR2A	chr2:36739328-36739675	K562	blood:	n/a	n/a
31	HCFC1	chr2:36739438-36739649	K562	blood:	n/a	n/a
32	NR2F2	chr2:36739350-36739690	K562	blood:	n/a	n/a
33	CEBPD	chr2:36739275-36739782	K562	blood:	n/a	n/a
34	EP300	chr2:36739299-36739710	K562	blood:	n/a	n/a
35	MAX	chr2:36739431-36739671	K562	blood:	n/a	n/a
36	CHD2	chr2:36739476-36739697	K562	blood:	n/a	n/a
37	IRF1	chr2:36739253-36739620	K562	blood:	n/a	chr2:36739582-36739592
38	TRIM28	chr2:36739358-36739750	K562	blood:	n/a	n/a
39	TEAD4	chr2:36739249-36739793	K562	blood:	n/a	n/a
40	GATA2	chr2:36739310-36739664	K562	blood:	n/a	n/a
41	CUX1	chr2:36739398-36739682	K562	blood:	n/a	n/a
42	TBL1XR1	chr2:36739392-36739706	K562	blood:	n/a	n/a
43	JUN	chr2:36739047-36739869	K562	blood:	n/a	n/a
44	NR2F2	chr2:36739230-36739774	K562	blood:	n/a	n/a
45	EBF1	chr2:36739536-36739817	GM12878	blood:	n/a	n/a
46	MAZ	chr2:36739406-36739681	K562	blood:	n/a	n/a
47	BHLHE40	chr2:36739369-36739753	K562	blood:	n/a	n/a
48	POLR2A	chr2:36739345-36739680	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:36581989..36584664-chr2:36738069..36740246,2	MCF-7	breast:

No data

Variant related genes	Relation type
CRIM1	TF binding region
ENSG00000260025	Chromatin interaction
ENSG00000150938	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10490671	0.87[CEU][hapmap]
rs2023408	1.00[CEU][hapmap];0.88[TSI][hapmap]
rs3770827	0.87[CEU][hapmap]
rs3770834	1.00[CEU][hapmap]
rs711247	0.87[CEU][hapmap]
rs848515	1.00[CHD][hapmap]
rs848520	0.80[CEU][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];0.82[MEX][hapmap];0.84[TSI][hapmap]
rs848521	0.81[CEU][hapmap]
rs848524	0.87[CEU][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];0.84[TSI][hapmap]
rs848621	1.00[CHD][hapmap]
rs867701	0.80[CEU][hapmap]
rs884216	0.87[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833803	chr2:36589065-36745779	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1010985	chr2:36707157-36942066	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv535642	chr2:36707157-36942066	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs848526	FEZ2	cis	parietal	SCAN

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36705000-36743200	Weak transcription	Brain Germinal Matrix	brain
2	chr2:36707000-36740600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:36710000-36743400	Weak transcription	Primary T cells from cord blood	blood
4	chr2:36713800-36789600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr2:36717400-36744400	Weak transcription	Brain Angular Gyrus	brain
6	chr2:36720000-36760600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:36721800-36746000	Strong transcription	HUVEC	blood vessel
8	chr2:36722400-36739800	Weak transcription	Brain Hippocampus Middle	brain
9	chr2:36722600-36752400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr2:36724000-36740600	Weak transcription	Psoas Muscle	Psoas
11	chr2:36725200-36756800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr2:36726800-36751800	Strong transcription	Skeletal Muscle Female	skeletal muscle
13	chr2:36727000-36739600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr2:36727400-36757200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr2:36727600-36739800	Weak transcription	Right Ventricle	heart
16	chr2:36727600-36740800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr2:36727600-36743600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr2:36728400-36749200	Weak transcription	Fetal Brain Male	brain
19	chr2:36729200-36740600	Weak transcription	Liver	Liver
20	chr2:36729600-36790200	Weak transcription	Small Intestine	intestine
21	chr2:36730800-36739600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr2:36733000-36752000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr2:36733200-36743400	Strong transcription	NHEK	skin
24	chr2:36733200-36774200	Weak transcription	Fetal Thymus	thymus
25	chr2:36733400-36740000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr2:36733400-36764400	Weak transcription	Pancreas	Pancrea
27	chr2:36733600-36740000	Weak transcription	Gastric	stomach
28	chr2:36733600-36748800	Weak transcription	Stomach Mucosa	stomach
29	chr2:36733600-36750200	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr2:36734600-36756800	Strong transcription	HepG2	liver
31	chr2:36735400-36744200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr2:36735600-36754200	Strong transcription	Hela-S3	cervix
33	chr2:36735800-36751000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr2:36735800-36752600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr2:36736000-36745000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr2:36736000-36755800	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr2:36736400-36741000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr2:36736400-36751400	Strong transcription	Left Ventricle	heart
39	chr2:36736800-36751400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
40	chr2:36737000-36740000	Genic enhancers	Osteobl	bone
41	chr2:36737200-36745200	Strong transcription	Fetal Stomach	stomach
42	chr2:36737600-36742600	Strong transcription	Primary hematopoietic stem cells	blood
43	chr2:36737800-36748600	Weak transcription	Primary B cells from peripheral blood	blood
44	chr2:36737800-36750600	Strong transcription	A549	lung
45	chr2:36738000-36744600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr2:36738000-36745000	Genic enhancers	Placenta	Placenta
47	chr2:36738000-36747200	Weak transcription	Thymus	Thymus
48	chr2:36738200-36745000	Strong transcription	Cortex derived primary cultured neurospheres	brain
49	chr2:36738200-36745200	Strong transcription	Skeletal Muscle Male	skeletal muscle
50	chr2:36738200-36754000	Strong transcription	Rectal Mucosa Donor 29	rectum

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