Variant report

Variant	rs561646
Chromosome Location	chr11:85746037-85746038
allele	C/T
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	chr11:85741083..85743215-chr11:85744719..85747264,4	K562	blood:
3	chr11:85745012..85747754-chr11:85749922..85752779,3	MCF-7	breast:
4	chr11:85744986..85747847-chr11:85984634..85986736,2	K562	blood:
5	chr11:85739064..85744454-chr11:85744719..85749528,8	K562	blood:

Variant related genes	Relation type
ENSG00000074266	Chromatin interaction

Extended variants
information (count: 98 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs10751134	0.95[JPT][hapmap]
rs10792830	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs10792831	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs10792832	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs10898438	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs10898439	0.87[CHB][hapmap];1.00[JPT][hapmap]
rs1214669	0.86[ASN][1000 genomes]
rs12808312	0.83[ASN][1000 genomes]
rs1898895	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs1949221	0.97[ASN][1000 genomes]
rs1973630	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2155051	0.82[AFR][1000 genomes]
rs2508379	0.81[AMR][1000 genomes]
rs2508381	0.97[ASN][1000 genomes]
rs2508690	0.88[ASN][1000 genomes]
rs2508691	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2508692	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2508693	0.96[ASN][1000 genomes]
rs2508696	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2508697	0.86[ASN][1000 genomes]
rs3016240	0.95[ASN][1000 genomes]
rs3016786	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs3851178	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs3851179	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs475639	0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs478711	0.90[ASN][1000 genomes]
rs480781	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs484154	0.91[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs493254	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4944560	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs497816	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs501505	0.85[ASN][1000 genomes]
rs519778	0.94[ASN][1000 genomes]
rs526904	0.96[CHB][hapmap];1.00[JPT][hapmap]
rs529904	0.93[ASN][1000 genomes]
rs532470	0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs535590	0.84[EUR][1000 genomes]
rs536841	0.96[CEU][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs541458	0.96[CEU][hapmap];0.89[YRI][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs541674	0.97[ASN][1000 genomes]
rs542126	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs545592	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs553141	0.96[ASN][1000 genomes]
rs561655	0.80[CEU][hapmap]
rs563773	0.90[ASN][1000 genomes]
rs565031	0.89[ASN][1000 genomes]
rs565719	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs572979	0.81[ASN][1000 genomes]
rs587038	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs600258	0.87[AFR][1000 genomes]
rs602222	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs606505	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs609903	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs613222	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs622220	0.83[AFR][1000 genomes]
rs627818	0.83[YRI][hapmap];0.84[AFR][1000 genomes]
rs629343	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs631639	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs634719	0.90[YRI][hapmap]
rs636355	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs636772	0.93[ASN][1000 genomes]
rs639012	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs642949	0.94[ASN][1000 genomes]
rs645299	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs647422	0.94[ASN][1000 genomes]
rs659023	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs659863	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs666682	0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs669813	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs671686	0.87[ASN][1000 genomes]
rs673751	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs676733	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs677869	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs677909	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs682928	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs683494	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs694011	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7114331	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs7114401	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs7129687	0.91[CHB][hapmap];0.86[JPT][hapmap]
rs7941541	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs7951988	0.81[CHB][hapmap]
rs867611	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][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:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85716800-85746200	Weak transcription	Pancreas	Pancrea
2	chr11:85731600-85754200	Weak transcription	Brain Germinal Matrix	brain
3	chr11:85733200-85754000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr11:85737000-85746200	Weak transcription	Fetal Intestine Small	intestine
5	chr11:85737000-85746400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr11:85737000-85752800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr11:85737200-85747800	Weak transcription	Spleen	Spleen
8	chr11:85737200-85751800	Weak transcription	NHLF	lung
9	chr11:85737200-85755200	Weak transcription	Lung	lung
10	chr11:85737200-85755600	Weak transcription	Esophagus	oesophagus
11	chr11:85738000-85746200	Weak transcription	HSMMtube	muscle
12	chr11:85738400-85752400	Weak transcription	Fetal Kidney	kidney
13	chr11:85738800-85752000	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr11:85739000-85749200	Weak transcription	Fetal Stomach	stomach
15	chr11:85740400-85751800	Weak transcription	Rectal Smooth Muscle	rectum
16	chr11:85740400-85755600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr11:85740600-85750400	Weak transcription	Colonic Mucosa	Colon
18	chr11:85740600-85752600	Weak transcription	NHEK	skin
19	chr11:85740800-85754000	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr11:85741400-85751800	Weak transcription	HMEC	breast
21	chr11:85741600-85746200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr11:85742000-85746400	Weak transcription	Fetal Brain Male	brain
23	chr11:85742000-85747000	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr11:85742000-85752000	Weak transcription	NHDF-Ad	bronchial
25	chr11:85742000-85752200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr11:85742200-85746200	Weak transcription	Left Ventricle	heart
27	chr11:85742200-85746200	Weak transcription	Right Atrium	heart
28	chr11:85742200-85746600	Enhancers	Brain Substantia Nigra	brain
29	chr11:85742200-85749000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr11:85742200-85750000	Weak transcription	Fetal Muscle Trunk	muscle
31	chr11:85742200-85750000	Weak transcription	Thymus	Thymus
32	chr11:85742200-85751800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr11:85742200-85754000	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr11:85742200-85755000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr11:85742200-85755400	Weak transcription	Aorta	Aorta
36	chr11:85742400-85746200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr11:85742400-85746200	Weak transcription	Fetal Muscle Leg	muscle
38	chr11:85742400-85746200	Weak transcription	Psoas Muscle	Psoas
39	chr11:85742400-85746400	Weak transcription	Fetal Heart	heart
40	chr11:85742400-85749200	Weak transcription	Fetal Thymus	thymus
41	chr11:85742400-85751800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr11:85742400-85752000	Weak transcription	Stomach Smooth Muscle	stomach
43	chr11:85742400-85752400	Weak transcription	Primary hematopoietic stem cells	blood
44	chr11:85742400-85752400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr11:85742400-85752800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr11:85742600-85747800	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chr11:85742600-85749200	Weak transcription	Osteobl	bone
48	chr11:85742600-85751800	Weak transcription	Fetal Lung	lung
49	chr11:85742600-85751800	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr11:85742600-85752400	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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