Variant report

Variant	rs72963092
Chromosome Location	chr11:85744626-85744627
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:85744471..85746960-chr11:85953530..85956105,2	K562	blood:
2	chr11:85740366..85741884-chr11:85743938..85745486,2	MCF-7	breast:
3	chr11:85743346..85745394-chr11:85746206..85747764,2	K562	blood:
4	chr11:85742480..85744643-chr11:85751587..85754338,2	K562	blood:

Variant related genes	Relation type
ENSG00000074266	Chromatin interaction

Extended variants
information (count: 86 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10128700	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10501603	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10501605	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10501607	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10898431	0.90[EUR][1000 genomes]
rs11234489	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11234492	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11234496	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11234502	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11234512	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11234513	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11234517	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12270433	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12278260	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12279956	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12281494	0.87[EUR][1000 genomes]
rs12281958	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12282655	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12287170	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1596739	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17159904	0.81[EUR][1000 genomes]
rs17744938	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17745105	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17745153	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17745236	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17745248	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17745273	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17817582	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17817588	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17817690	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17817859	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17817883	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17817919	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17817956	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2001241	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2084077	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs41381550	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4943934	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4943936	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4943937	0.87[EUR][1000 genomes]
rs4944550	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4944551	0.87[EUR][1000 genomes]
rs4944552	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4944553	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4944554	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4944555	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4944556	0.87[EUR][1000 genomes]
rs55697624	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs55791429	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55815523	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56026701	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56187740	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs57125313	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs58937798	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72949419	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72949443	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72950443	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72950453	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72950456	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72951266	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72951268	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72959177	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72959197	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72959906	0.87[EUR][1000 genomes]
rs72961110	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72961111	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72963077	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72963086	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72965157	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72965166	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7943152	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035489	chr11:85502953-85778229	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1048818	chr11:85524635-85746473	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv541116	chr11:85524635-85746473	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv1053808	chr11:85588919-85757693	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv468769	chr11:85683554-85757589	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv555641	chr11:85683554-85757589	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv898054	chr11:85683554-85772636	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv468770	chr11:85688209-85751883	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv555642	chr11:85688209-85751883	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv468771	chr11:85688209-85757589	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	nsv468773	chr11:85688209-85757589	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	nsv555643	chr11:85688209-85757589	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	nsv468774	chr11:85688209-85775059	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
14	nsv555644	chr11:85688209-85775059	Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
15	esv1829985	chr11:85740319-85789350	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85659400-85745800	Weak transcription	Stomach Mucosa	stomach
2	chr11:85701000-85745000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:85716800-85746200	Weak transcription	Pancreas	Pancrea
4	chr11:85721800-85745800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr11:85727800-85745800	Weak transcription	Right Ventricle	heart
6	chr11:85731600-85754200	Weak transcription	Brain Germinal Matrix	brain
7	chr11:85733200-85754000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr11:85737000-85746200	Weak transcription	Fetal Intestine Small	intestine
9	chr11:85737000-85746400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr11:85737000-85752800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr11:85737200-85747800	Weak transcription	Spleen	Spleen
12	chr11:85737200-85751800	Weak transcription	NHLF	lung
13	chr11:85737200-85755200	Weak transcription	Lung	lung
14	chr11:85737200-85755600	Weak transcription	Esophagus	oesophagus
15	chr11:85738000-85746200	Weak transcription	HSMMtube	muscle
16	chr11:85738400-85752400	Weak transcription	Fetal Kidney	kidney
17	chr11:85738800-85752000	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr11:85739000-85749200	Weak transcription	Fetal Stomach	stomach
19	chr11:85740400-85751800	Weak transcription	Rectal Smooth Muscle	rectum
20	chr11:85740400-85755600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr11:85740600-85745800	Weak transcription	A549	lung
22	chr11:85740600-85750400	Weak transcription	Colonic Mucosa	Colon
23	chr11:85740600-85752600	Weak transcription	NHEK	skin
24	chr11:85740800-85744800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr11:85740800-85754000	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr11:85741000-85745400	Weak transcription	Fetal Brain Female	brain
27	chr11:85741400-85751800	Weak transcription	HMEC	breast
28	chr11:85741600-85746200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr11:85742000-85745000	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr11:85742000-85745200	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr11:85742000-85746400	Weak transcription	Fetal Brain Male	brain
32	chr11:85742000-85747000	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr11:85742000-85752000	Weak transcription	NHDF-Ad	bronchial
34	chr11:85742000-85752200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr11:85742200-85745400	Weak transcription	Primary T cells from cord blood	blood
36	chr11:85742200-85746200	Weak transcription	Left Ventricle	heart
37	chr11:85742200-85746200	Weak transcription	Right Atrium	heart
38	chr11:85742200-85746600	Enhancers	Brain Substantia Nigra	brain
39	chr11:85742200-85749000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr11:85742200-85750000	Weak transcription	Fetal Muscle Trunk	muscle
41	chr11:85742200-85750000	Weak transcription	Thymus	Thymus
42	chr11:85742200-85751800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr11:85742200-85754000	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr11:85742200-85755000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr11:85742200-85755400	Weak transcription	Aorta	Aorta
46	chr11:85742400-85745400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr11:85742400-85745400	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr11:85742400-85746200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr11:85742400-85746200	Weak transcription	Fetal Muscle Leg	muscle
50	chr11:85742400-85746200	Weak transcription	Psoas Muscle	Psoas

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