Variant report

Variant	rs12676348
Chromosome Location	chr8:63943175-63943176
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	FOXP2	chr8:63943128-63943314	SK-N-MC	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:63935416..63938127-chr8:63942225..63943777,2	K562	blood:

Variant related genes	Relation type
GGH	TF binding region
ENSG00000253121	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs1031552	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.98[ASN][1000 genomes]
rs10464903	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10464904	1.00[ASW][hapmap];1.00[CEU][hapmap];0.92[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10464905	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10957265	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10957266	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10957267	0.81[CHD][hapmap]
rs10957268	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10957269	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10957270	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12056582	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12541047	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs12541370	0.98[ASN][1000 genomes]
rs12541993	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12543020	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12543961	0.86[AMR][1000 genomes]
rs12545230	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12545245	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12546361	1.00[CEU][hapmap];0.92[GIH][hapmap];0.94[MEX][hapmap]
rs12547772	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12547848	0.83[AMR][1000 genomes]
rs12548172	1.00[CEU][hapmap]
rs12548729	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12549172	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12675369	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12677953	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.98[ASN][1000 genomes]
rs12677972	0.98[ASN][1000 genomes]
rs12678042	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12678214	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12680223	0.92[ASN][1000 genomes]
rs12682112	0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs12682385	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16929963	0.88[AMR][1000 genomes]
rs16929988	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1963949	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2305558	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs3758147	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3780128	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs3824333	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs4310197	0.98[ASN][1000 genomes]
rs4317561	0.98[ASN][1000 genomes]
rs4404907	0.98[ASN][1000 genomes]
rs4521747	0.98[ASN][1000 genomes]
rs4534128	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4737616	1.00[CEU][hapmap]
rs4737621	0.86[AMR][1000 genomes]
rs4737625	0.97[ASN][1000 genomes]
rs4737626	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4737627	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4739028	0.85[AMR][1000 genomes]
rs4739031	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs4739032	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4739037	1.00[CEU][hapmap];0.83[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs4739046	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4739047	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72658339	0.92[ASN][1000 genomes]
rs72658340	0.91[ASN][1000 genomes]
rs72658349	0.98[ASN][1000 genomes]
rs72658350	0.98[ASN][1000 genomes]
rs72658353	0.98[ASN][1000 genomes]
rs72658359	0.98[ASN][1000 genomes]
rs72658362	0.98[ASN][1000 genomes]
rs72658367	0.98[ASN][1000 genomes]
rs72658371	0.98[ASN][1000 genomes]
rs72658375	0.98[ASN][1000 genomes]
rs7818582	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs930840	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033527	chr8:63673915-64073735	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:63922600-63949200	Weak transcription	Fetal Brain Female	brain
2	chr8:63922800-63950000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr8:63922800-63950000	Weak transcription	HMEC	breast
4	chr8:63922800-63950800	Weak transcription	Fetal Muscle Leg	muscle
5	chr8:63923600-63944600	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr8:63923800-63950600	Weak transcription	Fetal Kidney	kidney
7	chr8:63924000-63944800	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr8:63926200-63945200	Weak transcription	A549	lung
9	chr8:63926200-63949000	Weak transcription	Brain Germinal Matrix	brain
10	chr8:63926200-63949400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr8:63929200-63949200	Weak transcription	Fetal Brain Male	brain
12	chr8:63929400-63945400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr8:63931400-63950000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr8:63935400-63949200	Weak transcription	K562	blood
15	chr8:63935800-63950000	Weak transcription	NHDF-Ad	bronchial
16	chr8:63936200-63949600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr8:63936400-63948800	Weak transcription	GM12878-XiMat	blood
18	chr8:63936400-63949400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr8:63936800-63949800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr8:63936800-63949800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr8:63938000-63949200	Weak transcription	NHEK	skin
22	chr8:63938000-63950000	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr8:63938200-63943200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr8:63938200-63950600	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr8:63938600-63948600	Weak transcription	NH-A	brain
26	chr8:63938600-63949200	Weak transcription	HUVEC	blood vessel
27	chr8:63939200-63950000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr8:63939600-63949200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr8:63940600-63944400	Enhancers	HepG2	liver
30	chr8:63941200-63949600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr8:63941400-63943400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr8:63941400-63944200	Enhancers	Liver	Liver
33	chr8:63941400-63948600	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr8:63942000-63949000	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr8:63942600-63945000	Weak transcription	Fetal Intestine Small	intestine
36	chr8:63942600-63950000	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr8:63942800-63943400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr8:63942800-63944200	Weak transcription	Fetal Intestine Large	intestine

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