Variant report

Variant	rs12731107
Chromosome Location	chr1:93167329-93167330
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	chr1:93167076-93167372	SK-N-MC	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:93167180..93169532-chr1:93173013..93175472,3	K562	blood:

Variant related genes	Relation type
RNU4-59P	TF binding region

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs11164803	0.94[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11164814	0.94[CEU][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs11164816	0.83[EUR][1000 genomes]
rs11164820	0.82[CEU][hapmap];1.00[JPT][hapmap]
rs11577426	0.87[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11578004	0.93[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11578098	0.87[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11581176	1.00[JPT][hapmap]
rs11581705	0.83[EUR][1000 genomes]
rs11583778	0.81[EUR][1000 genomes]
rs11585590	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11586570	1.00[JPT][hapmap]
rs11588545	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11589122	0.82[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11589660	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11591094	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11800409	0.93[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11800771	0.88[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11800848	0.87[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11801763	0.87[YRI][hapmap]
rs11803097	0.94[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11804321	1.00[JPT][hapmap];1.00[YRI][hapmap]
rs11805007	0.81[CEU][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11805229	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11805698	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11807962	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11808092	0.80[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11809055	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11809700	0.94[EUR][1000 genomes]
rs11810217	0.86[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12728322	1.00[JPT][hapmap]
rs12730641	0.83[AFR][1000 genomes]
rs12733238	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12738833	0.87[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12743005	0.94[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12743520	0.82[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12746893	0.93[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12749480	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12749786	0.94[CEU][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12756698	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12756786	0.82[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1333743	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1415296	0.80[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1854797	1.00[JPT][hapmap]
rs2051841	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2893226	1.00[JPT][hapmap]
rs34202284	0.93[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34221961	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34231012	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34250288	0.86[EUR][1000 genomes]
rs34288890	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34305407	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34343030	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34734076	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34761380	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34812295	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34843292	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35038369	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35183060	1.00[JPT][hapmap]
rs35241270	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35311203	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35435370	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35526187	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35612297	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35699160	0.86[EUR][1000 genomes]
rs35705463	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35901796	0.87[EUR][1000 genomes]
rs36099538	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36114576	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3790450	0.81[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4642892	1.00[JPT][hapmap];0.89[YRI][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs56044027	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs59864761	0.83[EUR][1000 genomes]
rs6604026	1.00[JPT][hapmap]
rs67026262	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs67646822	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs67876779	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs68160001	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs71652503	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72724515	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72724555	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72724574	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72724586	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72724587	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7514280	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830603	chr1:93003657-93172206	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv1794348	chr1:93090476-93192932	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv1802611	chr1:93090476-93219907	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv997898	chr1:93167128-93228156	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93098400-93205400	Weak transcription	NHLF	lung
2	chr1:93120000-93171400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr1:93122800-93169400	Weak transcription	Brain Cingulate Gyrus	brain
4	chr1:93123400-93176200	Weak transcription	Psoas Muscle	Psoas
5	chr1:93123600-93178800	Weak transcription	Aorta	Aorta
6	chr1:93123600-93213400	Weak transcription	Gastric	stomach
7	chr1:93142400-93171000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:93146600-93175600	Weak transcription	NHEK	skin
9	chr1:93148600-93171000	Weak transcription	Hela-S3	cervix
10	chr1:93153400-93170200	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr1:93154000-93167600	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr1:93155800-93213400	Weak transcription	Lung	lung
13	chr1:93156200-93172800	Weak transcription	HepG2	liver
14	chr1:93156200-93174000	Weak transcription	A549	lung
15	chr1:93156800-93170800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr1:93157800-93171000	Weak transcription	Stomach Mucosa	stomach
17	chr1:93157800-93175600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr1:93158200-93169400	Weak transcription	Primary hematopoietic stem cells	blood
19	chr1:93159000-93174800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr1:93160800-93170600	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr1:93160800-93171000	Weak transcription	NH-A	brain
22	chr1:93160800-93174000	Weak transcription	Brain Angular Gyrus	brain
23	chr1:93160800-93175200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr1:93160800-93175200	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr1:93160800-93175200	Weak transcription	HSMM	muscle
26	chr1:93160800-93177000	Weak transcription	Ovary	ovary
27	chr1:93161000-93167400	Weak transcription	Duodenum Mucosa	Duodenum
28	chr1:93161000-93167600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr1:93161000-93168200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr1:93161000-93168400	Weak transcription	HMEC	breast
31	chr1:93161000-93168600	Weak transcription	Primary B cells from peripheral blood	blood
32	chr1:93161000-93170600	Weak transcription	Stomach Smooth Muscle	stomach
33	chr1:93161000-93170800	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr1:93161000-93170800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr1:93161000-93171000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr1:93161000-93171000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr1:93161000-93171000	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr1:93161000-93171000	Weak transcription	Right Ventricle	heart
39	chr1:93161000-93171200	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr1:93161000-93175200	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr1:93161000-93175600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr1:93161000-93176800	Weak transcription	Colon Smooth Muscle	Colon
43	chr1:93161000-93197400	Weak transcription	Primary B cells from cord blood	blood
44	chr1:93161000-93197800	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr1:93161000-93199000	Weak transcription	Left Ventricle	heart
46	chr1:93162200-93175400	Weak transcription	HSMMtube	muscle
47	chr1:93162400-93170800	Weak transcription	Fetal Intestine Small	intestine
48	chr1:93163800-93170400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr1:93163800-93170800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr1:93163800-93177400	Weak transcription	Placenta	Placenta

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