Variant report

Variant	rs1136330
Chromosome Location	chr11:9304939-9304940
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:9286396..9288555-chr11:9303070..9305468,2	K562	blood:

Variant related genes	Relation type
ENSG00000184014	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10734643	0.86[EUR][1000 genomes]
rs10743101	0.86[EUR][1000 genomes]
rs11042260	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11042282	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs11042294	0.87[AMR][1000 genomes]
rs11600093	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11600994	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11601190	0.83[EUR][1000 genomes]
rs11601229	0.86[EUR][1000 genomes]
rs11601340	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11601383	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11601789	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs11603759	0.86[AMR][1000 genomes]
rs11604054	0.82[EUR][1000 genomes]
rs11604121	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11604198	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11604607	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11605358	1.00[AFR][1000 genomes]
rs11605674	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs11606740	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11606969	0.83[EUR][1000 genomes]
rs11607790	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11608223	1.00[AFR][1000 genomes]
rs16906708	0.87[AMR][1000 genomes]
rs35347227	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs36005639	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs4351820	0.96[EUR][1000 genomes]
rs4622264	0.93[EUR][1000 genomes]
rs4910036	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4910038	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4910039	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4910449	1.00[AFR][1000 genomes]
rs4910450	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4910456	1.00[AFR][1000 genomes]
rs55640358	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs55723890	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs55741313	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs55793943	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs55980718	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs55989000	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55994936	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs56002897	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs56065481	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs56081129	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs56292930	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7394938	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7395168	0.82[EUR][1000 genomes]
rs7395453	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7395754	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7396336	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7396512	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9215	0.96[EUR][1000 genomes]
rs956516	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33264	chr11:9007612-9311131	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv1040049	chr11:9152536-9363488	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv916534	chr11:9188436-9516241	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
4	nsv1053045	chr11:9208881-9363488	Flanking Active TSS Weak transcription Strong transcription Enhancers 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	21 gene(s)	inside rSNPs	diseases
5	nsv540947	chr11:9208881-9363488	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	nsv1055078	chr11:9252857-9538877	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
7	nsv515891	chr11:9275898-9334961	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases
8	nsv7669	chr11:9290376-9335028	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9287400-9319600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:9287400-9332600	Weak transcription	HMEC	breast
3	chr11:9287400-9333000	Weak transcription	Gastric	stomach
4	chr11:9287600-9319200	Weak transcription	NHLF	lung
5	chr11:9287800-9305200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr11:9287800-9312200	Weak transcription	K562	blood
7	chr11:9287800-9328400	Weak transcription	A549	lung
8	chr11:9287800-9333800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr11:9288000-9320400	Weak transcription	Fetal Kidney	kidney
10	chr11:9288200-9321200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:9288600-9323200	Weak transcription	Pancreas	Pancrea
12	chr11:9289600-9311600	Weak transcription	HepG2	liver
13	chr11:9289600-9314400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr11:9290000-9318000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr11:9291600-9322600	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr11:9293800-9311000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr11:9296000-9307600	Weak transcription	Primary B cells from cord blood	blood
18	chr11:9296600-9307400	Weak transcription	Lung	lung
19	chr11:9296600-9320000	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr11:9296600-9332600	Weak transcription	Right Ventricle	heart
21	chr11:9296600-9333000	Weak transcription	Psoas Muscle	Psoas
22	chr11:9296600-9334800	Weak transcription	Aorta	Aorta
23	chr11:9296800-9307800	Weak transcription	Brain Hippocampus Middle	brain
24	chr11:9296800-9319800	Weak transcription	Brain Substantia Nigra	brain
25	chr11:9296800-9332800	Weak transcription	Brain Angular Gyrus	brain
26	chr11:9296800-9333200	Weak transcription	Colon Smooth Muscle	Colon
27	chr11:9296800-9333200	Weak transcription	Ovary	ovary
28	chr11:9297000-9307800	Weak transcription	HUVEC	blood vessel
29	chr11:9297000-9321400	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr11:9297000-9322800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr11:9297200-9321000	Weak transcription	Left Ventricle	heart
32	chr11:9298200-9323800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr11:9299200-9320000	Weak transcription	HSMMtube	muscle
34	chr11:9299400-9305600	Weak transcription	Fetal Muscle Leg	muscle
35	chr11:9299600-9312400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr11:9301600-9305200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr11:9301600-9305400	Strong transcription	Fetal Intestine Large	intestine
38	chr11:9301600-9305800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr11:9301600-9306800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
40	chr11:9301600-9308000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr11:9301600-9308600	Strong transcription	Liver	Liver
42	chr11:9301600-9321200	Strong transcription	HUES64 Cell Line	embryonic stem cell
43	chr11:9301600-9321600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr11:9301800-9305200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr11:9301800-9309600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
46	chr11:9301800-9312400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr11:9302000-9305400	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr11:9302200-9305000	Strong transcription	Placenta	Placenta
49	chr11:9302200-9305000	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr11:9302200-9305400	Weak transcription	Fetal Stomach	stomach

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