Variant report

Variant	rs11601700
Chromosome Location	chr11:67064502-67064503
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:67064219..67065904-chr11:67074110..67076020,2	K562	blood:
2	chr11:67063539..67065071-chr11:67067203..67069960,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SSH3-2	chr11:67064099-67065527	NONHSAT022389

Variant related genes	Relation type
ENSG00000172830	Chromatin interaction
ENSG00000172932	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10896164	0.82[AMR][1000 genomes]
rs10896167	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10896168	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10896169	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11227788	0.84[ASN][1000 genomes]
rs11608094	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12788752	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs1540135	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1558256	0.84[ASN][1000 genomes]
rs1638566	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1638567	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1638571	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1638574	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1790740	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2071007	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2256154	0.84[ASN][1000 genomes]
rs2429460	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2429462	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2514256	0.84[ASN][1000 genomes]
rs2514258	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3781941	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3781942	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3781943	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3909168	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3927807	0.82[AFR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4024520	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4255546	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4375446	0.81[ASN][1000 genomes]
rs4503557	0.88[AFR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4542419	0.84[EUR][1000 genomes]
rs4930192	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4930197	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4930418	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56337023	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6591239	0.82[AFR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs660960	0.84[EUR][1000 genomes]
rs674499	0.93[EUR][1000 genomes]
rs7106352	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7113390	0.82[AFR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7480390	0.84[ASN][1000 genomes]
rs7930829	0.81[ASN][1000 genomes]
rs872109	0.84[ASN][1000 genomes]
rs872110	0.84[ASN][1000 genomes]
rs9943601	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv933183	chr11:67008447-67160993	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv897796	chr11:67021518-67186000	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	nsv897797	chr11:67023040-67293234	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	206 gene(s)	inside rSNPs	diseases
5	nsv897798	chr11:67024534-67065858	Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv897799	chr11:67024534-67072623	Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
7	nsv897800	chr11:67024534-67086298	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
8	nsv1043037	chr11:67027193-67357425	Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
9	nsv468603	chr11:67033076-67164495	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
10	nsv555253	chr11:67033076-67164495	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
11	nsv897801	chr11:67033076-67432479	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
12	nsv897802	chr11:67051245-67075024	Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
13	nsv1047890	chr11:67058231-67184436	Flanking Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
14	nsv1048230	chr11:67058231-67252397	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	146 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	chr11:67057600-67067000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr11:67057600-67069200	Weak transcription	Psoas Muscle	Psoas
3	chr11:67058000-67065800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr11:67058600-67066600	Weak transcription	HSMMtube	muscle
5	chr11:67058600-67069200	Weak transcription	Fetal Heart	heart
6	chr11:67059800-67066200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr11:67059800-67066200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr11:67059800-67066200	Weak transcription	Rectal Smooth Muscle	rectum
9	chr11:67059800-67066400	Weak transcription	Gastric	stomach
10	chr11:67059800-67066800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr11:67059800-67067800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr11:67060000-67065800	Weak transcription	Esophagus	oesophagus
13	chr11:67060000-67065800	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr11:67060000-67065800	Weak transcription	Spleen	Spleen
15	chr11:67060000-67066200	Weak transcription	Colonic Mucosa	Colon
16	chr11:67060000-67066200	Weak transcription	Right Ventricle	heart
17	chr11:67060000-67066400	Weak transcription	Lung	lung
18	chr11:67060000-67066400	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr11:67060000-67066600	Weak transcription	Aorta	Aorta
20	chr11:67060000-67066800	Weak transcription	Pancreas	Pancrea
21	chr11:67060000-67067000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr11:67060000-67068000	Strong transcription	Fetal Muscle Trunk	muscle
23	chr11:67060000-67069400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr11:67060000-67069600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr11:67060200-67066200	Weak transcription	Brain Angular Gyrus	brain
26	chr11:67060200-67066400	Weak transcription	Brain Cingulate Gyrus	brain
27	chr11:67060400-67065600	Weak transcription	Stomach Smooth Muscle	stomach
28	chr11:67060400-67065800	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr11:67060800-67066000	Weak transcription	Brain Hippocampus Middle	brain
30	chr11:67060800-67066200	Weak transcription	Colon Smooth Muscle	Colon
31	chr11:67061000-67066800	Weak transcription	Stomach Mucosa	stomach
32	chr11:67061200-67066600	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr11:67061200-67069000	Strong transcription	Osteobl	bone
34	chr11:67061200-67069800	Weak transcription	Small Intestine	intestine
35	chr11:67061400-67069000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr11:67062000-67064800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr11:67062000-67066200	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr11:67062000-67069000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr11:67062200-67064600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
40	chr11:67062200-67064600	ZNF genes & repeats	GM12878-XiMat	blood
41	chr11:67062200-67065800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr11:67062200-67065800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr11:67062200-67070400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr11:67062400-67064800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
45	chr11:67062800-67064600	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
46	chr11:67063200-67065800	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr11:67063200-67066800	Weak transcription	Left Ventricle	heart
48	chr11:67063200-67066800	Weak transcription	Ovary	ovary
49	chr11:67063200-67067800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr11:67063400-67064600	ZNF genes & repeats	A549	lung

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