Variant report

Variant	rs1864322
Chromosome Location	chr11:72143210-72143211
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	TEAD4	chr11:72142793-72144127	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:71821841..71823408-chr11:72142963..72145568,2	K562	blood:
2	chr11:71932379..71935171-chr11:72141438..72143643,2	K562	blood:
3	chr11:71933144..71936187-chr11:72142812..72145474,4	MCF-7	breast:
4	chr11:72017541..72019937-chr11:72142730..72145659,3	K562	blood:

Variant related genes	Relation type
CLPB	TF binding region
ENSG00000162129	Chromatin interaction
ENSG00000110200	Chromatin interaction
ENSG00000165458	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11235499	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[MKK][hapmap];0.98[ASN][1000 genomes]
rs1160142	1.00[CEU][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs11821309	0.93[ASN][1000 genomes]
rs11828128	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs12295464	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17160018	1.00[CEU][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs17162150	1.00[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57380316	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57402767	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58058345	0.95[EUR][1000 genomes]
rs58515298	0.95[EUR][1000 genomes]
rs58571741	0.95[EUR][1000 genomes]
rs7107422	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7109307	0.95[EUR][1000 genomes]
rs7109466	1.00[CEU][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs7111173	0.85[EUR][1000 genomes]
rs7118089	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7118697	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7120137	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7129526	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7927430	1.00[CEU][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs7938979	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs7940087	0.82[EUR][1000 genomes]
rs7947482	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7950298	0.82[CEU][hapmap];0.83[TSI][hapmap];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832206	chr11:72006573-72176017	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	esv1794740	chr11:72021720-72332931	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72125800-72144800	Weak transcription	Fetal Kidney	kidney
2	chr11:72129400-72144800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr11:72129400-72145000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:72132600-72144800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr11:72132600-72144800	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr11:72132800-72144800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr11:72133800-72145200	Weak transcription	Small Intestine	intestine
8	chr11:72135600-72144000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr11:72136400-72144200	Weak transcription	Fetal Heart	heart
10	chr11:72136800-72144800	Weak transcription	Right Atrium	heart
11	chr11:72137400-72144800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr11:72137600-72143800	Weak transcription	Psoas Muscle	Psoas
13	chr11:72137600-72144800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr11:72138000-72144800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr11:72138800-72143600	Weak transcription	Fetal Lung	lung
16	chr11:72139400-72144600	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr11:72140000-72144800	Weak transcription	Rectal Smooth Muscle	rectum
18	chr11:72140000-72144800	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr11:72140200-72144000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr11:72140200-72144800	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr11:72140200-72144800	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr11:72140200-72144800	Weak transcription	Colonic Mucosa	Colon
23	chr11:72140400-72144800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr11:72140600-72144800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr11:72140800-72144800	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr11:72141000-72144800	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr11:72141000-72144800	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr11:72141200-72144000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr11:72141200-72144600	Weak transcription	A549	lung
30	chr11:72141200-72144800	Weak transcription	Left Ventricle	heart
31	chr11:72141200-72145000	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr11:72141400-72143600	Weak transcription	Gastric	stomach
33	chr11:72141400-72144000	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr11:72141400-72144600	Weak transcription	Right Ventricle	heart
35	chr11:72141400-72144800	Weak transcription	Fetal Intestine Large	intestine
36	chr11:72141400-72145000	Weak transcription	Ovary	ovary
37	chr11:72141600-72143400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr11:72141600-72143400	Weak transcription	Lung	lung
39	chr11:72141600-72143800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr11:72141600-72144000	Weak transcription	Duodenum Mucosa	Duodenum
41	chr11:72141600-72144000	Weak transcription	Fetal Stomach	stomach
42	chr11:72141600-72144200	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr11:72141600-72144800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr11:72141600-72144800	Enhancers	Primary monocytes fromperipheralblood	blood
45	chr11:72141600-72145000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr11:72141600-72145000	Weak transcription	Aorta	Aorta
47	chr11:72141600-72145000	Weak transcription	Esophagus	oesophagus
48	chr11:72141800-72143400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr11:72141800-72143400	Enhancers	NH-A	brain
50	chr11:72141800-72143600	Weak transcription	Duodenum Smooth Muscle	Duodenum

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