Variant report

Variant	rs8140343
Chromosome Location	chr22:32775365-32775366
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	CTCF	chr22:32775260-32775410	HMEC	breast:	n/a	n/a
2	JUND	chr22:32774715-32775438	K562	blood:	n/a	chr22:32775325-32775335 chr22:32775324-32775336 chr22:32775325-32775335 chr22:32775326-32775334
3	RCOR1	chr22:32775249-32775416	K562	blood:	n/a	n/a
4	CTCF	chr22:32773943-32775446	SK-N-SH	brain:	n/a	chr22:32774880-32774898 chr22:32775157-32775170 chr22:32774615-32774628 chr22:32774883-32774896

No.	Distal block	Cell Line	Cell type	Cell Stage
1	22:31829733-31836635..22:32764253-32784733	K562	blood:
2	22:31936958-31958600..22:32764253-32784733	K562	blood:
3	chr22:32774466..32775412-chr22:32914589..32915237,2	K562	blood:
4	chr22:32774801..32777723-chr22:32782145..32784494,2	MCF-7	breast:
5	22:32529813-32538538..22:32764253-32784733	H1-hESC	embryonic stem cell:	embryo
6	chr22:32774995..32777727-chr22:32778059..32780471,2	K562	blood:
7	22:32513817-32522138..22:32764253-32784733	H1-hESC	embryonic stem cell:	embryo
8	22:32360288-32405313..22:32764253-32784733	K562	blood:

Variant related genes	Relation type
ENSG00000241954	TF binding region
ENSG00000184708	Chromatin interaction
ENSG00000239674	Chromatin interaction
ENSG00000241954	Chromatin interaction
ENSG00000232707	Chromatin interaction
ENSG00000234479	Chromatin interaction
ENSG00000214093	Chromatin interaction
ENSG00000240647	Chromatin interaction
ENSG00000232218	Chromatin interaction
ENSG00000230866	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10427626	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10427862	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12166325	1.00[JPT][hapmap]
rs12484018	1.00[JPT][hapmap]
rs12484208	1.00[JPT][hapmap]
rs16982521	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16990246	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1985543	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2076043	0.92[YRI][hapmap]
rs2413112	1.00[JPT][hapmap]
rs5749430	0.91[YRI][hapmap]
rs5754073	0.91[YRI][hapmap]
rs58799288	0.84[AFR][1000 genomes]
rs5994553	1.00[JPT][hapmap]
rs5994554	1.00[JPT][hapmap]
rs5994556	1.00[JPT][hapmap]
rs5994557	1.00[JPT][hapmap]
rs5998443	1.00[JPT][hapmap]
rs5998450	1.00[JPT][hapmap]
rs5998455	1.00[JPT][hapmap]
rs5998458	1.00[JPT][hapmap]
rs5998464	1.00[JPT][hapmap]
rs5998466	1.00[JPT][hapmap]
rs5998468	1.00[JPT][hapmap]
rs62239301	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62239302	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62239303	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62239308	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62239309	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62239310	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62239311	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62239328	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62239332	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62239335	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62239336	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62239337	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62239342	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62239343	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6518774	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs713647	1.00[JPT][hapmap]
rs713934	1.00[JPT][hapmap]
rs7284302	1.00[JPT][hapmap]
rs7286017	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7286847	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7287687	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7287726	1.00[JPT][hapmap]
rs738268	1.00[JPT][hapmap]
rs738269	1.00[JPT][hapmap]
rs8141075	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9609519	1.00[JPT][hapmap]
rs9609546	1.00[JPT][hapmap]
rs9621431	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	esv2422247	chr22:32486448-32788258	Strong transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
2	nsv459874	chr22:32574274-32866934	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
3	nsv588895	chr22:32574274-32866934	Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
4	nsv1064737	chr22:32603912-32829725	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32755800-32781600	Weak transcription	Ovary	ovary
2	chr22:32762800-32788200	Weak transcription	Psoas Muscle	Psoas
3	chr22:32772000-32781200	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr22:32772200-32781400	Weak transcription	Fetal Intestine Small	intestine
5	chr22:32772600-32781400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr22:32772800-32780800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr22:32772800-32781400	Weak transcription	Brain Germinal Matrix	brain
8	chr22:32772800-32781600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr22:32773200-32781400	Weak transcription	Gastric	stomach
10	chr22:32773200-32781400	Weak transcription	Lung	lung
11	chr22:32773800-32781600	Weak transcription	Esophagus	oesophagus
12	chr22:32774000-32782000	Weak transcription	Primary B cells from cord blood	blood
13	chr22:32774400-32775400	Enhancers	Fetal Muscle Trunk	muscle
14	chr22:32774400-32775400	Enhancers	Fetal Muscle Leg	muscle
15	chr22:32774400-32775400	Enhancers	Spleen	Spleen
16	chr22:32774400-32781200	Weak transcription	Primary T cells from cord blood	blood
17	chr22:32774400-32781400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr22:32774600-32775400	Enhancers	Brain Substantia Nigra	brain
19	chr22:32774600-32780800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr22:32774800-32775400	Enhancers	Brain Angular Gyrus	brain
21	chr22:32774800-32775400	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr22:32774800-32775400	Enhancers	K562	blood
23	chr22:32775000-32775400	Enhancers	H1 Cell Line	embryonic stem cell
24	chr22:32775000-32775400	Enhancers	Brain Anterior Caudate	brain
25	chr22:32775000-32783400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr22:32775200-32781200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr22:32775200-32781200	Weak transcription	Duodenum Mucosa	Duodenum
28	chr22:32775200-32781400	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr22:32775200-32781400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr22:32775200-32781400	Weak transcription	Brain Cingulate Gyrus	brain
31	chr22:32775200-32782000	Weak transcription	HMEC	breast
32	chr22:32775200-32782200	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr22:32775200-32782200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr22:32775200-32782200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr22:32775200-32782400	Weak transcription	Brain Hippocampus Middle	brain
36	chr22:32775200-32782600	Weak transcription	Right Ventricle	heart
37	chr22:32775200-32783200	Weak transcription	HepG2	liver

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