Variant report

Variant	rs3800636
Chromosome Location	chr7:137402718-137402719
allele	C/T
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	FOS	chr7:137402651-137402837	MCF10A-Er-Src	breast:	n/a	chr7:137402803-137402810 chr7:137402803-137402812 chr7:137402802-137402811 chr7:137402801-137402813 chr7:137402802-137402812
2	CEBPB	chr7:137402504-137402779	IMR90	lung:	n/a	n/a
3	KAP1	chr7:137402530-137403030	U2OS	brain:	n/a	chr7:137402801-137402810
4	MAX	chr7:137402514-137403126	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF3	chr7:137402686-137402952	K562	blood:	n/a	n/a
6	BACH1	chr7:137402628-137402982	H1-hESC	embryonic stem cell:	n/a	chr7:137402800-137402814
7	KAP1	chr7:137402538-137402972	HEK293	kidney:	n/a	chr7:137402801-137402810
8	FOS	chr7:137402596-137402971	MCF10A-Er-Src	breast:	n/a	chr7:137402803-137402810 chr7:137402803-137402812 chr7:137402802-137402811 chr7:137402801-137402813 chr7:137402802-137402812
9	CEBPB	chr7:137402537-137403091	H1-hESC	embryonic stem cell:	n/a	n/a
10	JUN	chr7:137402616-137402928	H1-hESC	embryonic stem cell:	n/a	chr7:137402803-137402810 chr7:137402803-137402812 chr7:137402802-137402811 chr7:137402801-137402813 chr7:137402802-137402812
11	MAFK	chr7:137402617-137403014	H1-hESC	embryonic stem cell:	n/a	chr7:137402801-137402810
12	POLR2A	chr7:137402477-137403017	U87	brain:	n/a	n/a
13	JUND	chr7:137402654-137402957	HepG2	liver:	n/a	chr7:137402803-137402810 chr7:137402803-137402812 chr7:137402802-137402811 chr7:137402801-137402812 chr7:137402801-137402813 chr7:137402802-137402812
14	JUND	chr7:137402613-137403128	H1-hESC	embryonic stem cell:	n/a	chr7:137402803-137402810 chr7:137402803-137402812 chr7:137402802-137402811 chr7:137402801-137402812 chr7:137402801-137402813 chr7:137402802-137402812
15	FOS	chr7:137402648-137402942	MCF10A-Er-Src	breast:	n/a	chr7:137402803-137402810 chr7:137402803-137402812 chr7:137402802-137402811 chr7:137402801-137402813 chr7:137402802-137402812
16	EGR1	chr7:137402699-137402903	GM12878	blood:	n/a	chr7:137402818-137402832
17	FOS	chr7:137402638-137402850	MCF10A-Er-Src	breast:	n/a	chr7:137402803-137402810 chr7:137402803-137402812 chr7:137402802-137402811 chr7:137402801-137402813 chr7:137402802-137402812
18	POLR2A	chr7:137402477-137403036	U87	brain:	n/a	n/a
19	BATF	chr7:137402665-137402933	GM12878	blood:	n/a	chr7:137402800-137402810 chr7:137402799-137402810
20	JUND	chr7:137402695-137402912	H1-hESC	embryonic stem cell:	n/a	chr7:137402803-137402810 chr7:137402803-137402812 chr7:137402802-137402811 chr7:137402801-137402812 chr7:137402801-137402813 chr7:137402802-137402812
21	EBF1	chr7:137402684-137402875	GM12878	blood:	n/a	n/a
22	ATF2	chr7:137402631-137403096	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:137400906..137403879-chr7:137418023..137420463,3	K562	blood:

Variant related genes	Relation type
ENSG00000230383	TF binding region

Extended variants
information (count: 50 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10215980	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10234581	1.00[CEU][hapmap];0.95[GIH][hapmap];0.92[MEX][hapmap];0.85[TSI][hapmap]
rs1025085	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1025087	0.88[CEU][hapmap];0.81[JPT][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11521066	0.88[CEU][hapmap]
rs11974351	0.92[CEU][hapmap]
rs11976084	0.88[CEU][hapmap]
rs12056089	0.87[CHB][hapmap];0.81[CHD][hapmap];0.90[ASN][1000 genomes]
rs12707364	0.80[ASN][1000 genomes]
rs12707367	0.82[CHB][hapmap];0.82[ASN][1000 genomes]
rs12707372	0.84[ASN][1000 genomes]
rs13234743	1.00[CEU][hapmap];0.81[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13235392	0.87[CEU][hapmap]
rs1345918	0.92[CEU][hapmap];0.81[JPT][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1364396	0.92[CEU][hapmap]
rs1424370	0.82[CHB][hapmap];0.82[ASN][1000 genomes]
rs1424371	0.82[ASN][1000 genomes]
rs1424372	0.92[CEU][hapmap];0.95[TSI][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1834143	0.82[JPT][hapmap]
rs1991084	0.86[CHB][hapmap];0.88[ASN][1000 genomes]
rs2113428	0.86[CHB][hapmap];0.81[CHD][hapmap];0.86[ASN][1000 genomes]
rs2882781	0.81[ASN][1000 genomes]
rs33916081	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34025316	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3778797	0.82[JPT][hapmap]
rs3778799	0.86[ASN][1000 genomes]
rs3778803	0.88[CEU][hapmap]
rs3800630	0.82[ASN][1000 genomes]
rs3800637	1.00[CEU][hapmap];0.87[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3800644	0.85[ASW][hapmap];0.96[CEU][hapmap];0.85[GIH][hapmap];0.81[JPT][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3800645	0.88[CEU][hapmap]
rs3800649	0.92[CEU][hapmap]
rs3800653	0.87[CEU][hapmap]
rs3823552	0.90[ASN][1000 genomes]
rs4728420	0.82[JPT][hapmap]
rs4732263	0.82[CHB][hapmap];0.81[ASN][1000 genomes]
rs4732264	0.82[CHB][hapmap];0.82[ASN][1000 genomes]
rs6944527	0.85[ASW][hapmap];0.88[CEU][hapmap];0.82[GIH][hapmap];0.81[JPT][hapmap];0.92[MEX][hapmap];0.90[TSI][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6947142	0.88[CEU][hapmap]
rs6957797	0.92[CEU][hapmap];0.81[GIH][hapmap];0.81[JPT][hapmap];0.92[MEX][hapmap];0.82[TSI][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6971978	0.87[CHB][hapmap];0.87[ASN][1000 genomes]
rs6976725	0.82[JPT][hapmap]
rs7795441	0.88[CEU][hapmap]
rs7802342	0.88[CEU][hapmap]
rs7806658	0.86[CHB][hapmap];0.88[ASN][1000 genomes]
rs7806810	0.82[CHB][hapmap];0.83[ASN][1000 genomes]
rs9784934	0.95[CEU][hapmap];0.86[JPT][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]

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	nsv1022793	chr7:137187383-137619359	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv464731	chr7:137356651-137404781	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
3	nsv608466	chr7:137356651-137404781	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3800636	ADCK2	cis	cerebellum	SCAN

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:137399200-137403200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr7:137399400-137403600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr7:137399800-137403200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr7:137400400-137402800	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr7:137400600-137403800	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr7:137400600-137404000	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr7:137400800-137403200	Weak transcription	Brain Anterior Caudate	brain
8	chr7:137400800-137403400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr7:137400800-137404800	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr7:137400800-137405400	Weak transcription	Right Atrium	heart
11	chr7:137401000-137402800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr7:137401000-137403000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr7:137401600-137404000	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr7:137401800-137402800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr7:137401800-137403600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
16	chr7:137401800-137404000	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr7:137401800-137404400	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr7:137402200-137403600	Enhancers	H1 Cell Line	embryonic stem cell
19	chr7:137402400-137402800	Enhancers	H9 Cell Line	embryonic stem cell
20	chr7:137402400-137403000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr7:137402400-137403200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr7:137402400-137403200	Enhancers	HSMMtube	muscle
23	chr7:137402400-137403200	Flanking Active TSS	Osteobl	bone
24	chr7:137402400-137403400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr7:137402400-137403600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr7:137402400-137403600	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr7:137402400-137403600	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr7:137402600-137402800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
29	chr7:137402600-137403000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr7:137402600-137403000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr7:137402600-137403000	Flanking Active TSS	HMEC	breast
32	chr7:137402600-137403000	Flanking Active TSS	NH-A	brain
33	chr7:137402600-137403200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr7:137402600-137403200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
35	chr7:137402600-137403200	Enhancers	Brain Hippocampus Middle	brain
36	chr7:137402600-137403200	Enhancers	NHDF-Ad	bronchial
37	chr7:137402600-137403400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr7:137402600-137403400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr7:137402600-137403400	Enhancers	HSMM	muscle
40	chr7:137402600-137403600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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