Variant report

Variant	rs11943569
Chromosome Location	chr4:110471642-110471643
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:110466638..110469623-chr4:110471525..110474014,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11932787	1.00[EUR][1000 genomes]
rs11936024	1.00[EUR][1000 genomes]
rs11936922	1.00[EUR][1000 genomes]
rs11938121	1.00[EUR][1000 genomes]
rs11946147	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17040395	1.00[EUR][1000 genomes]
rs17040401	1.00[EUR][1000 genomes]
rs17040524	0.83[EUR][1000 genomes]
rs34839272	1.00[EUR][1000 genomes]
rs56137934	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56717127	1.00[EUR][1000 genomes]
rs56761640	0.83[EUR][1000 genomes]
rs57334274	1.00[EUR][1000 genomes]
rs58850082	1.00[EUR][1000 genomes]
rs59069711	1.00[EUR][1000 genomes]
rs6841710	1.00[EUR][1000 genomes]
rs6845967	1.00[EUR][1000 genomes]
rs73838811	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461613	chr4:109922064-110593460	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv595129	chr4:109922064-110593460	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	esv3349784	chr4:110348873-110723163	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv980240	chr4:110467259-110476042	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:110423400-110480800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:110448800-110479600	Weak transcription	Small Intestine	intestine
3	chr4:110448800-110480000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr4:110452400-110480800	Weak transcription	Right Ventricle	heart
5	chr4:110454000-110480600	Weak transcription	NHLF	lung
6	chr4:110454600-110480200	Weak transcription	A549	lung
7	chr4:110455600-110480600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr4:110456400-110472000	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr4:110456400-110480600	Weak transcription	Brain Substantia Nigra	brain
10	chr4:110456400-110481600	Weak transcription	Fetal Heart	heart
11	chr4:110457400-110480600	Weak transcription	Right Atrium	heart
12	chr4:110460200-110480800	Weak transcription	Brain Anterior Caudate	brain
13	chr4:110461000-110480600	Weak transcription	HSMMtube	muscle
14	chr4:110461200-110479600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr4:110462000-110478400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr4:110462400-110474400	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr4:110462600-110479600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr4:110462800-110480800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr4:110463200-110480800	Weak transcription	Colonic Mucosa	Colon
20	chr4:110464000-110476200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr4:110464400-110478800	Weak transcription	Dnd41	blood
22	chr4:110464600-110471800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr4:110464600-110473800	Weak transcription	Fetal Kidney	kidney
24	chr4:110464600-110476000	Weak transcription	Thymus	Thymus
25	chr4:110464600-110480600	Weak transcription	Brain Hippocampus Middle	brain
26	chr4:110464600-110480600	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr4:110464800-110473200	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr4:110464800-110480200	Weak transcription	Rectal Smooth Muscle	rectum
29	chr4:110464800-110480800	Weak transcription	Gastric	stomach
30	chr4:110465400-110475600	Weak transcription	Fetal Intestine Large	intestine
31	chr4:110465400-110480600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr4:110465400-110480600	Weak transcription	Fetal Muscle Leg	muscle
33	chr4:110465600-110480600	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr4:110465800-110480200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr4:110466200-110472000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr4:110467800-110473400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr4:110467800-110478800	Weak transcription	Fetal Stomach	stomach
38	chr4:110467800-110480400	Weak transcription	Stomach Smooth Muscle	stomach
39	chr4:110467800-110480800	Weak transcription	Left Ventricle	heart
40	chr4:110468200-110480200	Weak transcription	GM12878-XiMat	blood
41	chr4:110468400-110480800	Weak transcription	Liver	Liver
42	chr4:110469400-110474400	Weak transcription	Ovary	ovary
43	chr4:110469600-110472200	Weak transcription	Aorta	Aorta
44	chr4:110469600-110474200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr4:110469600-110480600	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr4:110469800-110472400	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr4:110469800-110480600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr4:110469800-110480600	Weak transcription	Fetal Muscle Trunk	muscle
49	chr4:110470000-110476000	Weak transcription	HSMM	muscle
50	chr4:110470000-110480200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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