Variant report

Variant	rs55949732
Chromosome Location	chr4:111012363-111012364
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	chr4:111012077..111013938-chr4:111038447..111040997,2	K562	blood:
2	chr4:111010061..111013884-chr4:111117601..111121321,3	K562	blood:

Variant related genes	Relation type
ENSG00000170522	Chromatin interaction
ENSG00000263940	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs17041343	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2005700	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55652907	0.89[ASN][1000 genomes]
rs55837341	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869392	chr4:110945459-111235071	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats 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 target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:110993200-111015400	Weak transcription	Psoas Muscle	Psoas
2	chr4:110995000-111018600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:111004600-111026000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:111004600-111027800	Weak transcription	Esophagus	oesophagus
5	chr4:111006000-111013200	Enhancers	Dnd41	blood
6	chr4:111006000-111014000	Enhancers	HMEC	breast
7	chr4:111006200-111012400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr4:111006200-111012400	Enhancers	Osteobl	bone
9	chr4:111006200-111012600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr4:111006400-111013000	Weak transcription	Fetal Kidney	kidney
11	chr4:111006600-111026000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr4:111006800-111012600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr4:111006800-111014200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr4:111006800-111025800	Weak transcription	Liver	Liver
15	chr4:111008400-111026000	Weak transcription	Fetal Brain Female	brain
16	chr4:111009200-111012400	Weak transcription	Duodenum Mucosa	Duodenum
17	chr4:111009400-111013600	Weak transcription	Brain Anterior Caudate	brain
18	chr4:111009600-111012400	Weak transcription	Brain Cingulate Gyrus	brain
19	chr4:111009600-111013200	Weak transcription	Brain Substantia Nigra	brain
20	chr4:111009800-111012600	Weak transcription	Brain Hippocampus Middle	brain
21	chr4:111009800-111016600	Weak transcription	Fetal Heart	heart
22	chr4:111010000-111012400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr4:111010000-111027600	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr4:111010000-111028000	Weak transcription	HepG2	liver
25	chr4:111010200-111017600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr4:111010400-111024800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr4:111010600-111012400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr4:111010800-111012400	Weak transcription	Brain Angular Gyrus	brain
29	chr4:111010800-111014800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr4:111010800-111023400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr4:111011000-111012400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr4:111011000-111026000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr4:111011000-111040200	Weak transcription	Primary hematopoietic stem cells	blood
34	chr4:111011200-111012400	Enhancers	NH-A	brain
35	chr4:111011200-111012400	Enhancers	NHLF	lung
36	chr4:111011200-111012600	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr4:111011400-111012400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr4:111011400-111012600	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr4:111011400-111024400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr4:111011400-111025800	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr4:111011600-111012400	Enhancers	HSMM	muscle
42	chr4:111011600-111012800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr4:111011600-111013000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr4:111011600-111013400	Enhancers	HUVEC	blood vessel
45	chr4:111011600-111014600	Weak transcription	K562	blood
46	chr4:111011600-111017000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr4:111011800-111012400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr4:111011800-111012800	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr4:111012000-111013000	Enhancers	Rectal Mucosa Donor 31	rectum
50	chr4:111012000-111013200	Enhancers	Hela-S3	cervix

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