Variant report

Variant	rs28482111
Chromosome Location	chr4:111013843-111013844
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:111012077..111013938-chr4:111038447..111040997,2	K562	blood:
2	chr4:111010061..111013884-chr4:111117601..111121321,3	K562	blood:

Variant related genes	Relation type
ENSG00000263940	Chromatin interaction
ENSG00000170522	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10023766	1.00[AFR][1000 genomes]
rs72898560	1.00[AFR][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:51 , 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	chr4:111006000-111014000	Enhancers	HMEC	breast
6	chr4:111006600-111026000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr4:111006800-111014200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr4:111006800-111025800	Weak transcription	Liver	Liver
9	chr4:111008400-111026000	Weak transcription	Fetal Brain Female	brain
10	chr4:111009800-111016600	Weak transcription	Fetal Heart	heart
11	chr4:111010000-111027600	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr4:111010000-111028000	Weak transcription	HepG2	liver
13	chr4:111010200-111017600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr4:111010400-111024800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr4:111010800-111014800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr4:111010800-111023400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr4:111011000-111026000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr4:111011000-111040200	Weak transcription	Primary hematopoietic stem cells	blood
19	chr4:111011400-111024400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr4:111011400-111025800	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr4:111011600-111014600	Weak transcription	K562	blood
22	chr4:111011600-111017000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr4:111012200-111014000	Enhancers	HSMMtube	muscle
24	chr4:111012600-111014000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr4:111012600-111014200	Enhancers	NHEK	skin
26	chr4:111012800-111014000	Enhancers	HSMM	muscle
27	chr4:111012800-111014400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr4:111012800-111020800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr4:111012800-111025800	Weak transcription	Duodenum Mucosa	Duodenum
30	chr4:111012800-111027800	Weak transcription	Fetal Intestine Small	intestine
31	chr4:111013000-111014400	Enhancers	NHDF-Ad	bronchial
32	chr4:111013000-111014800	Enhancers	Osteobl	bone
33	chr4:111013000-111024400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr4:111013000-111040400	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr4:111013200-111024400	Weak transcription	Dnd41	blood
36	chr4:111013400-111014000	Enhancers	Muscle Satellite Cultured Cells	--
37	chr4:111013400-111017200	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr4:111013400-111017600	Weak transcription	HUVEC	blood vessel
39	chr4:111013400-111023200	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr4:111013400-111024400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr4:111013400-111025800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr4:111013400-111027200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr4:111013600-111027400	Weak transcription	NH-A	brain
44	chr4:111013600-111027600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr4:111013600-111027600	Weak transcription	NHLF	lung
46	chr4:111013600-111040400	Weak transcription	Fetal Kidney	kidney
47	chr4:111013800-111014200	Weak transcription	Brain Germinal Matrix	brain
48	chr4:111013800-111020600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr4:111013800-111022800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr4:111013800-111025600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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