Variant report

Variant	rs4384389
Chromosome Location	chr11:9304428-9304429
allele	C/T
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: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10770011	0.82[AFR][1000 genomes]
rs10840197	0.90[AFR][1000 genomes]
rs11042254	0.85[AFR][1000 genomes]
rs4243946	0.87[AFR][1000 genomes]
rs4331093	0.90[AFR][1000 genomes]
rs4601780	0.90[AFR][1000 genomes]
rs4644643	0.84[AFR][1000 genomes]
rs4993930	0.84[AFR][1000 genomes]
rs7927382	0.93[AFR][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	chr11:9287600-9304800	Weak transcription	NHEK	skin
5	chr11:9287600-9319200	Weak transcription	NHLF	lung
6	chr11:9287800-9305200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr11:9287800-9312200	Weak transcription	K562	blood
8	chr11:9287800-9328400	Weak transcription	A549	lung
9	chr11:9287800-9333800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr11:9288000-9320400	Weak transcription	Fetal Kidney	kidney
11	chr11:9288200-9321200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:9288600-9323200	Weak transcription	Pancreas	Pancrea
13	chr11:9289600-9311600	Weak transcription	HepG2	liver
14	chr11:9289600-9314400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr11:9290000-9318000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr11:9291600-9322600	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr11:9293800-9311000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr11:9296000-9307600	Weak transcription	Primary B cells from cord blood	blood
19	chr11:9296600-9307400	Weak transcription	Lung	lung
20	chr11:9296600-9320000	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr11:9296600-9332600	Weak transcription	Right Ventricle	heart
22	chr11:9296600-9333000	Weak transcription	Psoas Muscle	Psoas
23	chr11:9296600-9334800	Weak transcription	Aorta	Aorta
24	chr11:9296800-9307800	Weak transcription	Brain Hippocampus Middle	brain
25	chr11:9296800-9319800	Weak transcription	Brain Substantia Nigra	brain
26	chr11:9296800-9332800	Weak transcription	Brain Angular Gyrus	brain
27	chr11:9296800-9333200	Weak transcription	Colon Smooth Muscle	Colon
28	chr11:9296800-9333200	Weak transcription	Ovary	ovary
29	chr11:9297000-9307800	Weak transcription	HUVEC	blood vessel
30	chr11:9297000-9321400	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr11:9297000-9322800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr11:9297200-9321000	Weak transcription	Left Ventricle	heart
33	chr11:9298200-9323800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr11:9299200-9320000	Weak transcription	HSMMtube	muscle
35	chr11:9299400-9305600	Weak transcription	Fetal Muscle Leg	muscle
36	chr11:9299600-9312400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr11:9301600-9305200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr11:9301600-9305400	Strong transcription	Fetal Intestine Large	intestine
39	chr11:9301600-9305800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr11:9301600-9306800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
41	chr11:9301600-9308000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr11:9301600-9308600	Strong transcription	Liver	Liver
43	chr11:9301600-9321200	Strong transcription	HUES64 Cell Line	embryonic stem cell
44	chr11:9301600-9321600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr11:9301800-9305200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr11:9301800-9309600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
47	chr11:9301800-9312400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr11:9302000-9305400	Strong transcription	HUES48 Cell Line	embryonic stem cell
49	chr11:9302200-9305000	Strong transcription	Placenta	Placenta
50	chr11:9302200-9305000	Weak transcription	Rectal Mucosa Donor 29	rectum

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