Variant report

Variant	rs2714474
Chromosome Location	chr2:37459735-37459736
allele	A/G
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	YY1	chr2:37459375-37459939	GM12892	blood:	n/a	n/a
2	MXI1	chr2:37456226-37460228	SK-N-SH	brain:	n/a	n/a
3	SMC3	chr2:37459687-37459782	HepG2	liver:	n/a	n/a
4	MAX	chr2:37457632-37459963	HepG2	liver:	n/a	chr2:37459879-37459890 chr2:37459880-37459890
5	SIN3A	chr2:37457701-37460089	H1-hESC	embryonic stem cell:	n/a	chr2:37458253-37458267
6	CREB1	chr2:37458165-37459839	HepG2	liver:	n/a	n/a
7	MXI1	chr2:37457475-37460225	IMR90	lung:	n/a	n/a
8	ZC3H11A	chr2:37459640-37459747	K562	blood:	n/a	n/a
9	STAT3	chr2:37459563-37459758	MCF10A-Er-Src	breast:	n/a	n/a
10	MAX	chr2:37457746-37459893	HepG2	liver:	n/a	chr2:37459879-37459890 chr2:37459880-37459890
11	POLR2A	chr2:37457736-37460395	HepG2	liver:	n/a	n/a
12	MXI1	chr2:37459552-37459907	GM12878	blood:	n/a	n/a
13	MAX	chr2:37457627-37459928	Hela-S3	cervix:	n/a	chr2:37459879-37459890 chr2:37459880-37459890
14	HCFC1	chr2:37457687-37459743	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr2:37459580-37459820	HUVEC	blood vessel:	n/a	n/a
16	TEAD4	chr2:37458352-37459803	K562	blood:	n/a	n/a
17	ZNF143	chr2:37459549-37459748	K562	blood:	n/a	n/a
18	MYC	chr2:37457639-37459957	K562	blood:	n/a	chr2:37459879-37459890 chr2:37459880-37459890
19	CHD2	chr2:37458471-37459759	Hela-S3	cervix:	n/a	n/a
20	MAX	chr2:37459728-37460018	NB4	blood:	n/a	chr2:37459879-37459890 chr2:37459880-37459890
21	RCOR1	chr2:37458237-37459758	Hela-S3	cervix:	n/a	n/a
22	MYC	chr2:37459714-37459837	K562	blood:	n/a	n/a
23	POLR2A	chr2:37457768-37459936	IMR90	lung:	n/a	n/a
24	RFX5	chr2:37459471-37459900	HepG2	liver:	n/a	chr2:37459649-37459658
25	REST	chr2:37457959-37460076	H1-neurons	neurons:	n/a	n/a
26	WRNIP1	chr2:37457744-37459830	GM12878	blood:	n/a	n/a
27	MAX	chr2:37459595-37460083	K562	blood:	n/a	chr2:37459879-37459890 chr2:37459880-37459890
28	ZNF263	chr2:37458232-37460028	HEK293-T-REx	kidney:	n/a	chr2:37459726-37459747
29	MXI1	chr2:37459643-37459919	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:37423198..37425602-chr2:37457469..37460195,6	K562	blood:
2	chr2:37457149..37460328-chr2:37469330..37472927,4	MCF-7	breast:
3	chr2:37458143..37460778-chr2:37473170..37474857,2	MCF-7	breast:
4	chr2:37438602..37441837-chr2:37456700..37460160,3	K562	blood:
5	chr2:37458068..37462101-chr2:37468406..37471417,5	K562	blood:
6	chr2:37420975..37425403-chr2:37457376..37460314,8	K562	blood:
7	chr2:37457826..37459742-chr2:38976926..38979723,2	K562	blood:
8	chr2:37422039..37425278-chr2:37456815..37459935,9	MCF-7	breast:
9	chr2:37422594..37426591-chr2:37455893..37460210,5	MCF-7	breast:
10	chr2:37413518..37417531-chr2:37457528..37460316,5	MCF-7	breast:
11	chr2:37456368..37460350-chr2:37466636..37472512,8	MCF-7	breast:

Variant related genes	Relation type
CEBPZ	TF binding region
ENSG00000218739	Chromatin interaction
ENSG00000233159	Chromatin interaction
ENSG00000003509	Chromatin interaction
ENSG00000138068	Chromatin interaction
ENSG00000152147	Chromatin interaction
ENSG00000115875	Chromatin interaction
ENSG00000115816	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10181140	1.00[ASW][hapmap];1.00[CEU][hapmap];0.82[GIH][hapmap]
rs2098386	1.00[ASW][hapmap];0.93[CEU][hapmap];0.96[GIH][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2465489	0.89[AFR][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2714474	PRKD3	cis	parietal	SCAN

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37456600-37460400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:37456800-37460600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:37457000-37459800	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr2:37457000-37459800	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr2:37457000-37460200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:37457000-37461000	Active TSS	H9 Cell Line	embryonic stem cell
7	chr2:37457200-37459800	Active TSS	Psoas Muscle	Psoas
8	chr2:37457200-37459800	Active TSS	NHDF-Ad	bronchial
9	chr2:37457200-37460400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr2:37457200-37461000	Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr2:37457400-37459800	Active TSS	NHLF	lung
12	chr2:37457400-37460000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr2:37457600-37459800	Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr2:37457600-37459800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:37457600-37459800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
16	chr2:37457600-37460400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr2:37457800-37460200	Active TSS	HUES64 Cell Line	embryonic stem cell
18	chr2:37458000-37460000	Active TSS	Small Intestine	intestine
19	chr2:37458800-37460000	Flanking Active TSS	Primary hematopoietic stem cells	blood
20	chr2:37459000-37459800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
21	chr2:37459000-37460000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
22	chr2:37459000-37460000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr2:37459200-37459800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
24	chr2:37459200-37459800	Flanking Active TSS	Primary B cells from peripheral blood	blood
25	chr2:37459200-37459800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
26	chr2:37459200-37459800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
27	chr2:37459200-37459800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
28	chr2:37459200-37459800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
29	chr2:37459200-37459800	Flanking Active TSS	Fetal Thymus	thymus
30	chr2:37459200-37459800	Flanking Active TSS	Thymus	Thymus
31	chr2:37459200-37459800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr2:37459200-37460000	Flanking Active TSS	Primary B cells from cord blood	blood
33	chr2:37459200-37460000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
34	chr2:37459200-37460000	Flanking Active TSS	Adipose Nuclei	Adipose
35	chr2:37459200-37460000	Flanking Active TSS	Colonic Mucosa	Colon
36	chr2:37459200-37460200	Flanking Active TSS	Primary T cells from cord blood	blood
37	chr2:37459200-37460200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr2:37459200-37460400	Flanking Active TSS	Stomach Smooth Muscle	stomach
39	chr2:37459400-37459800	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr2:37459400-37459800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
41	chr2:37459400-37459800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
42	chr2:37459400-37459800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr2:37459400-37459800	Flanking Active TSS	Liver	Liver
44	chr2:37459400-37459800	Flanking Active TSS	Esophagus	oesophagus
45	chr2:37459400-37459800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
46	chr2:37459400-37459800	Flanking Active TSS	Fetal Heart	heart
47	chr2:37459400-37459800	Flanking Active TSS	Fetal Muscle Leg	muscle
48	chr2:37459400-37459800	Flanking Active TSS	Placenta	Placenta
49	chr2:37459400-37459800	Flanking Active TSS	Fetal Stomach	stomach
50	chr2:37459400-37459800	Flanking Active TSS	Left Ventricle	heart

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