Variant report

Variant	rs55686111
Chromosome Location	chr4:147418068-147418069
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:147417660..147419201-chr4:147441419..147443363,2	K562	blood:
2	chr4:147417283..147419141-chr4:147422928..147424810,2	K562	blood:

Variant related genes	Relation type
ENSG00000120519	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs16998684	1.00[AFR][1000 genomes]
rs55829682	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461675	chr4:147116864-147768206	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv595651	chr4:147116864-147768206	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv1033640	chr4:147232217-147531881	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
4	nsv917053	chr4:147265436-147499653	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1023868	chr4:147265443-147531626	Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
6	nsv537293	chr4:147265443-147531626	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
7	nsv428453	chr4:147335953-147457115	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:147403000-147422200	Weak transcription	Placenta	Placenta
2	chr4:147403000-147436200	Weak transcription	Lung	lung
3	chr4:147403800-147424200	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr4:147403800-147440600	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr4:147404200-147441800	Weak transcription	Right Ventricle	heart
6	chr4:147404800-147420400	Weak transcription	Primary B cells from cord blood	blood
7	chr4:147405000-147424400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr4:147405200-147422600	Weak transcription	Primary B cells from peripheral blood	blood
9	chr4:147405400-147421400	Weak transcription	Liver	Liver
10	chr4:147405400-147422600	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr4:147405400-147424600	Weak transcription	Fetal Muscle Trunk	muscle
12	chr4:147405400-147436200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr4:147405400-147440600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr4:147405600-147421400	Weak transcription	Adipose Nuclei	Adipose
15	chr4:147405600-147440800	Weak transcription	Fetal Intestine Large	intestine
16	chr4:147405800-147422400	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr4:147405800-147422400	Weak transcription	Primary hematopoietic stem cells	blood
18	chr4:147405800-147428800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr4:147406400-147435200	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr4:147406800-147421800	Weak transcription	Fetal Muscle Leg	muscle
21	chr4:147406800-147424000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr4:147407000-147422600	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr4:147407000-147441800	Weak transcription	Aorta	Aorta
24	chr4:147407200-147441800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr4:147408200-147429600	Weak transcription	Psoas Muscle	Psoas
26	chr4:147408200-147441400	Weak transcription	Rectal Smooth Muscle	rectum
27	chr4:147408200-147442200	Weak transcription	Spleen	Spleen
28	chr4:147408600-147422600	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr4:147408600-147440800	Weak transcription	Fetal Brain Female	brain
30	chr4:147408800-147419600	Weak transcription	Fetal Lung	lung
31	chr4:147409200-147418200	Weak transcription	Fetal Intestine Small	intestine
32	chr4:147409200-147422000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr4:147409200-147422400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr4:147409400-147421400	Weak transcription	Primary T cells from cord blood	blood
35	chr4:147409400-147424600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr4:147409400-147441200	Weak transcription	Fetal Stomach	stomach
37	chr4:147410400-147436000	Weak transcription	Brain Anterior Caudate	brain
38	chr4:147410400-147441000	Weak transcription	Brain Germinal Matrix	brain
39	chr4:147410400-147441200	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr4:147410600-147421400	Weak transcription	Left Ventricle	heart
41	chr4:147410600-147422400	Weak transcription	Dnd41	blood
42	chr4:147410600-147422600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr4:147410600-147424000	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr4:147410800-147432600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr4:147410800-147432600	Weak transcription	HUVEC	blood vessel
46	chr4:147410800-147436000	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr4:147410800-147439600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr4:147411600-147422600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr4:147412000-147421200	Weak transcription	GM12878-XiMat	blood
50	chr4:147412400-147422200	Weak transcription	Brain Angular Gyrus	brain

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