Variant report

Variant	rs7583355
Chromosome Location	chr2:37417052-37417053
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	RAD21	chr2:37416967-37417200	K562	blood:	n/a	n/a
2	CTCF	chr2:37416986-37417233	IMR90	lung:	n/a	chr2:37417085-37417098
3	FOSL2	chr2:37416863-37417396	SK-N-SH	brain:	n/a	chr2:37417159-37417168 chr2:37417159-37417166 chr2:37417158-37417169 chr2:37417160-37417171
4	E2F4	chr2:37416997-37417275	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr2:37417038-37417397	MCF10A-Er-Src	breast:	n/a	n/a
6	HCFC1	chr2:37416986-37417180	K562	blood:	n/a	n/a
7	CTCF	chr2:37417009-37417174	HepG2	liver:	n/a	chr2:37417085-37417098
8	CTCF	chr2:37417031-37417112	Spleen_OC	spleen:	n/a	chr2:37417085-37417098
9	CTCF	chr2:37417000-37417150	HEEpiC	esophagus:	n/a	chr2:37417085-37417098
10	SMC3	chr2:37416917-37417267	Hela-S3	cervix:	n/a	n/a
11	CTCF	chr2:37417000-37417150	AG10803	skin:	n/a	chr2:37417085-37417098
12	CTCF	chr2:37416800-37417090	HPF	lung:	n/a	n/a
13	CTCF	chr2:37416980-37417130	BE2_C	brain:	n/a	chr2:37417085-37417098
14	JUN	chr2:37417000-37417332	HepG2	liver:	n/a	chr2:37417159-37417168 chr2:37417159-37417166 chr2:37417158-37417169 chr2:37417160-37417171
15	MAX	chr2:37416879-37417316	Hela-S3	cervix:	n/a	n/a
16	CTCF	chr2:37416960-37417110	HMF	breast:	n/a	chr2:37417085-37417098
17	RCOR1	chr2:37417004-37417258	HepG2	liver:	n/a	n/a
18	CTCF	chr2:37416920-37417070	HRE	kidney:	n/a	n/a
19	RAD21	chr2:37416931-37417227	HepG2	liver:	n/a	n/a
20	FOXA1	chr2:37416839-37417297	HepG2	liver:	n/a	n/a
21	CEBPB	chr2:37416999-37417318	IMR90	lung:	n/a	n/a
22	CTCF	chr2:37417040-37417190	HMEC	breast:	n/a	chr2:37417085-37417098
23	POLR2A	chr2:37416957-37417370	U87	brain:	n/a	n/a
24	POLR2A	chr2:37416513-37417279	H1-hESC	embryonic stem cell:	n/a	n/a
25	JUND	chr2:37416998-37417274	HepG2	liver:	n/a	chr2:37417159-37417168 chr2:37417159-37417166 chr2:37417157-37417168 chr2:37417158-37417169 chr2:37417160-37417171
26	CTCF	chr2:37417020-37417170	BJ	skin:	n/a	chr2:37417085-37417098
27	FOXA2	chr2:37417004-37417291	HepG2	liver:	n/a	n/a
28	FOXA1	chr2:37416997-37417254	HepG2	liver:	n/a	n/a
29	JUND	chr2:37416943-37417314	HepG2	liver:	n/a	chr2:37417159-37417168 chr2:37417159-37417166 chr2:37417157-37417168 chr2:37417158-37417169 chr2:37417160-37417171
30	MYC	chr2:37416941-37417309	MCF10A-Er-Src	breast:	n/a	n/a
31	STAT3	chr2:37416971-37417785	MCF10A-Er-Src	breast:	n/a	chr2:37417268-37417276
32	CTCF	chr2:37416920-37417070	BJ	skin:	n/a	n/a
33	CTCF	chr2:37417020-37417170	AG04449	skin:	n/a	chr2:37417085-37417098
34	CTCF	chr2:37416940-37417090	HCFaa	heart:	n/a	n/a
35	MYC	chr2:37416594-37418025	NB4	blood:	n/a	n/a
36	MAFF	chr2:37417000-37417261	HepG2	liver:	n/a	n/a
37	NFYB	chr2:37416984-37417282	Hela-S3	cervix:	n/a	n/a
38	SP1	chr2:37416829-37417322	A549	lung:	n/a	n/a
39	REST	chr2:37416853-37417203	PFSK-1	brain:	n/a	chr2:37417077-37417090
40	FOS	chr2:37416974-37417342	MCF10A-Er-Src	breast:	n/a	chr2:37417157-37417168 chr2:37417159-37417168 chr2:37417159-37417166 chr2:37417158-37417169 chr2:37417160-37417171
41	KAP1	chr2:37416884-37417778	U2OS	brain:	n/a	n/a
42	MYC	chr2:37416962-37417374	MCF10A-Er-Src	breast:	n/a	n/a
43	ARID3A	chr2:37417006-37417409	HepG2	liver:	n/a	n/a
44	CTCF	chr2:37417040-37417190	HepG2	liver:	n/a	chr2:37417085-37417098
45	CTCF	chr2:37417025-37417194	Hela-S3	cervix:	n/a	chr2:37417085-37417098
46	CTCF	chr2:37417020-37417170	AG09319	gingival:	n/a	chr2:37417085-37417098
47	CTCF	chr2:37417020-37417170	HEK293	kidney:	n/a	chr2:37417085-37417098
48	CTCF	chr2:37417037-37417181	Gliobla	brain:	n/a	chr2:37417085-37417098
49	CTCF	chr2:37416966-37417201	HepG2	liver:	n/a	chr2:37417085-37417098
50	POLR2A	chr2:37416553-37417370	HCT-116	colon:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:37416928..37419854-chr2:37422137..37424726,5	K562	blood:
2	chr2:37413518..37417531-chr2:37457528..37460316,5	MCF-7	breast:
3	chr2:37414854..37419854-chr2:37421416..37424726,5	K562	blood:

Variant related genes	Relation type
SULT6B1	TF binding region
ENSG00000233159	Chromatin interaction
ENSG00000003509	Chromatin interaction
ENSG00000138068	Chromatin interaction
ENSG00000218739	Chromatin interaction
ENSG00000115816	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10177970	1.00[JPT][hapmap]
rs10178975	1.00[JPT][hapmap]
rs10779921	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs11124575	1.00[JPT][hapmap];0.87[YRI][hapmap]
rs12712530	1.00[JPT][hapmap]
rs13022403	0.90[CEU][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes]
rs13410628	1.00[JPT][hapmap]
rs1861444	1.00[JPT][hapmap]
rs2041837	1.00[JPT][hapmap]
rs2041840	0.81[GIH][hapmap];1.00[JPT][hapmap]
rs2160391	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2249965	1.00[JPT][hapmap]
rs2300880	1.00[JPT][hapmap]
rs2372888	1.00[JPT][hapmap]
rs2465488	0.93[ASN][1000 genomes]
rs2540972	0.86[ASN][1000 genomes]
rs2540973	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2540975	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2540977	1.00[JPT][hapmap]
rs3770768	1.00[JPT][hapmap]
rs3845783	0.95[CEU][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap]
rs3845785	0.90[CEU][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap]
rs3845786	0.87[EUR][1000 genomes]
rs4648186	1.00[JPT][hapmap]
rs4670193	1.00[JPT][hapmap]
rs4670671	1.00[JPT][hapmap]
rs4670674	0.82[EUR][1000 genomes]
rs4670678	1.00[JPT][hapmap]
rs4670686	1.00[JPT][hapmap]
rs4670687	1.00[JPT][hapmap]
rs6544067	1.00[JPT][hapmap]
rs6710046	0.86[EUR][1000 genomes]
rs6730503	1.00[JPT][hapmap]
rs6734866	0.84[EUR][1000 genomes]
rs6748151	0.81[EUR][1000 genomes]
rs7605677	1.00[JPT][hapmap]
rs8243	1.00[JPT][hapmap]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7583355	CDC42EP3	cis	parietal	SCAN
rs7583355	QPCT	cis	parietal	SCAN

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37416200-37417400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
2	chr2:37416200-37418800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
3	chr2:37416200-37420200	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr2:37416200-37420400	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr2:37416400-37418400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr2:37416400-37420400	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr2:37416600-37417200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr2:37416600-37417200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr2:37416600-37417200	Enhancers	Pancreas	Pancrea
10	chr2:37416600-37417600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr2:37416600-37417600	Enhancers	HUVEC	blood vessel
12	chr2:37416600-37417800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr2:37416600-37417800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:37416600-37417800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr2:37416600-37417800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr2:37416600-37417800	Enhancers	NH-A	brain
17	chr2:37416600-37418000	Enhancers	H9 Cell Line	embryonic stem cell
18	chr2:37416600-37418000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr2:37416600-37418000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr2:37416600-37418000	Enhancers	Hela-S3	cervix
21	chr2:37416600-37418000	Enhancers	HMEC	breast
22	chr2:37416600-37418000	Enhancers	NHEK	skin
23	chr2:37416600-37418200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr2:37416600-37418200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr2:37416600-37418200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr2:37416600-37418400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr2:37416600-37418400	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr2:37416600-37418400	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr2:37416600-37419000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr2:37416600-37419000	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr2:37416600-37419200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr2:37416600-37419200	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr2:37416600-37419800	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr2:37416600-37420200	Enhancers	H1 Cell Line	embryonic stem cell
35	chr2:37416600-37420200	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr2:37416600-37420400	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr2:37416800-37417200	Enhancers	HSMM	muscle
38	chr2:37416800-37417400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr2:37416800-37417400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr2:37416800-37417400	Flanking Active TSS	A549	lung
41	chr2:37416800-37417400	Enhancers	Osteobl	bone
42	chr2:37416800-37417800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr2:37416800-37417800	Enhancers	Muscle Satellite Cultured Cells	--
44	chr2:37416800-37417800	Enhancers	NHLF	lung
45	chr2:37416800-37418000	Enhancers	K562	blood
46	chr2:37416800-37418600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr2:37416800-37419000	Weak transcription	Esophagus	oesophagus
48	chr2:37416800-37420200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr2:37416800-37423200	Weak transcription	Primary hematopoietic stem cells	blood
50	chr2:37417000-37417400	Enhancers	Brain Cingulate Gyrus	brain

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