Variant report

Variant	rs28663181
Chromosome Location	chr4:2560293-2560294
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:2542853..2544359-chr4:2559224..2561367,2	K562	blood:
2	chr4:2537495..2539851-chr4:2555523..2561144,6	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10010434	1.00[ASW][hapmap];1.00[AMR][1000 genomes]
rs10012203	1.00[AMR][1000 genomes]
rs10019119	1.00[AMR][1000 genomes]
rs28536640	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28586572	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432548	chr4:1725009-2652494	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	nsv948659	chr4:1828867-2815632	ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
3	nsv1003409	chr4:2541224-2724199	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:2539600-2561400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:2539600-2569400	Weak transcription	Gastric	stomach
3	chr4:2539800-2571600	Weak transcription	HSMMtube	muscle
4	chr4:2539800-2572200	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr4:2539800-2572400	Weak transcription	Aorta	Aorta
6	chr4:2540000-2562200	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr4:2540000-2562800	Weak transcription	Fetal Intestine Large	intestine
8	chr4:2540000-2565400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr4:2540000-2569400	Weak transcription	HSMM	muscle
10	chr4:2540000-2571200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr4:2540000-2571800	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr4:2540000-2585200	Weak transcription	Osteobl	bone
13	chr4:2540200-2560800	Weak transcription	Duodenum Mucosa	Duodenum
14	chr4:2540400-2563400	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr4:2540400-2576600	Weak transcription	NHLF	lung
16	chr4:2540800-2567400	Weak transcription	Placenta	Placenta
17	chr4:2541000-2569600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr4:2541200-2560800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr4:2541200-2561200	Weak transcription	Fetal Muscle Trunk	muscle
20	chr4:2541200-2562000	Weak transcription	Primary T cells from cord blood	blood
21	chr4:2541200-2566200	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr4:2541200-2572200	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr4:2541200-2575200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr4:2541200-2575400	Weak transcription	Fetal Lung	lung
25	chr4:2541600-2560400	Weak transcription	Brain Cingulate Gyrus	brain
26	chr4:2541600-2572000	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr4:2541800-2561200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr4:2541800-2571800	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr4:2541800-2574200	Weak transcription	Stomach Smooth Muscle	stomach
30	chr4:2544600-2572400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr4:2544800-2560800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr4:2544800-2561400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr4:2544800-2561400	Weak transcription	Spleen	Spleen
34	chr4:2544800-2565800	Weak transcription	Dnd41	blood
35	chr4:2544800-2569400	Weak transcription	Right Atrium	heart
36	chr4:2545000-2560800	Weak transcription	Fetal Muscle Leg	muscle
37	chr4:2545200-2561200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr4:2545200-2567200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr4:2545200-2572000	Weak transcription	Thymus	Thymus
40	chr4:2545200-2585000	Weak transcription	Rectal Smooth Muscle	rectum
41	chr4:2546000-2561800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr4:2546200-2563600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr4:2546200-2563600	Weak transcription	Fetal Brain Female	brain
44	chr4:2546600-2561600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr4:2547000-2561200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr4:2548400-2584200	Weak transcription	A549	lung
47	chr4:2551000-2561400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr4:2551000-2584400	Weak transcription	NHEK	skin
49	chr4:2553400-2572200	Weak transcription	Colon Smooth Muscle	Colon
50	chr4:2553600-2574000	Weak transcription	HepG2	liver

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