Variant report

Variant	rs3800637
Chromosome Location	chr7:137403432-137403433
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	MYC	chr7:137403242-137403704	NB4	blood:	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: 57 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs1019583	0.81[CHB][hapmap]
rs10215980	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10234581	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[GIH][hapmap];0.81[JPT][hapmap];0.92[MEX][hapmap];0.90[TSI][hapmap]
rs1025085	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1025087	0.88[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11521066	0.88[CEU][hapmap]
rs11974351	0.92[CEU][hapmap]
rs11976084	0.88[CEU][hapmap]
rs12056089	1.00[CHB][hapmap];0.91[CHD][hapmap];0.86[JPT][hapmap];0.90[ASN][1000 genomes]
rs12707364	0.80[ASN][1000 genomes]
rs12707367	0.95[CHB][hapmap];0.82[ASN][1000 genomes]
rs12707372	0.84[ASN][1000 genomes]
rs13234743	1.00[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13235392	0.87[CEU][hapmap]
rs1345918	0.92[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1364396	0.92[CEU][hapmap]
rs1424370	0.95[CHB][hapmap];0.82[ASN][1000 genomes]
rs1424371	0.94[CHB][hapmap];0.82[ASN][1000 genomes]
rs1424372	0.92[CEU][hapmap];0.86[CHB][hapmap];0.85[JPT][hapmap];0.92[TSI][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1834143	0.91[CHB][hapmap];0.81[JPT][hapmap]
rs1991084	1.00[CHB][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs2113428	1.00[CHB][hapmap];0.91[CHD][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs270893	0.81[CHB][hapmap]
rs270894	0.81[CHB][hapmap]
rs270896	0.81[CHB][hapmap]
rs2882781	0.81[ASN][1000 genomes]
rs33916081	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34025316	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3778797	0.91[CHB][hapmap];0.81[JPT][hapmap]
rs3778799	0.86[ASN][1000 genomes]
rs3778803	0.88[CEU][hapmap]
rs3800624	0.86[CHB][hapmap]
rs3800626	0.86[CHB][hapmap]
rs3800630	0.82[ASN][1000 genomes]
rs3800636	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	0.96[CEU][hapmap];0.86[CHB][hapmap];0.86[CHD][hapmap];0.85[GIH][hapmap];0.90[JPT][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.89[AMR][1000 genomes];0.89[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	0.91[CHB][hapmap];0.81[JPT][hapmap]
rs4732263	0.95[CHB][hapmap];0.81[ASN][1000 genomes]
rs4732264	0.95[CHB][hapmap];0.82[ASN][1000 genomes]
rs6944527	0.88[CEU][hapmap];0.81[CHB][hapmap];0.84[CHD][hapmap];0.82[GIH][hapmap];0.90[JPT][hapmap];0.92[MEX][hapmap];0.90[TSI][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6947142	0.88[CEU][hapmap]
rs6957797	0.92[CEU][hapmap];0.86[CHB][hapmap];0.84[CHD][hapmap];0.81[GIH][hapmap];0.90[JPT][hapmap];0.92[MEX][hapmap];0.81[MKK][hapmap];0.87[TSI][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6971978	1.00[CHB][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs6976725	0.91[CHB][hapmap];0.81[JPT][hapmap]
rs7457119	0.86[CHB][hapmap]
rs7795441	0.88[CEU][hapmap]
rs7802342	0.88[CEU][hapmap]
rs7806658	1.00[CHB][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs7806810	0.95[CHB][hapmap];0.83[ASN][1000 genomes]
rs9784934	0.95[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.89[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
rs3800637	ADCK2	cis	cerebellum	SCAN

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:137399400-137403600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr7:137400600-137403800	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr7:137400600-137404000	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr7:137400800-137404800	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr7:137400800-137405400	Weak transcription	Right Atrium	heart
6	chr7:137401600-137404000	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr7:137401800-137403600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
8	chr7:137401800-137404000	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr7:137401800-137404400	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr7:137402200-137403600	Enhancers	H1 Cell Line	embryonic stem cell
11	chr7:137402400-137403600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:137402400-137403600	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr7:137402400-137403600	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr7:137402600-137403600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr7:137402800-137403600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr7:137403000-137403600	Enhancers	NH-A	brain
17	chr7:137403000-137404000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr7:137403000-137404200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:137403200-137403600	Enhancers	Muscle Satellite Cultured Cells	--
20	chr7:137403200-137403600	Enhancers	Brain Anterior Caudate	brain
21	chr7:137403200-137403800	Genic enhancers	Osteobl	bone
22	chr7:137403200-137404200	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr7:137403200-137416200	Weak transcription	HSMMtube	muscle
24	chr7:137403400-137404400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr7:137403400-137404800	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr7:137403400-137404800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr7:137403400-137407800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr7:137403400-137412200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr7:137403400-137413000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr7:137403400-137413200	Weak transcription	Aorta	Aorta
31	chr7:137403400-137416000	Weak transcription	HSMM	muscle

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