Variant report

Variant	rs549948271
Chromosome Location	chr4:15607723-15607724
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:15599091..15600880-chr4:15606438..15609058,2	K562	blood:
2	chr4:15607476..15609952-chr4:15624488..15626808,2	K562	blood:
3	chr4:15606192..15608992-chr4:15609587..15612464,2	K562	blood:

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

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3448986	chr4:14928802-15805558	Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv2757923	chr4:15444617-15749520	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	esv2759227	chr4:15444617-15749520	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv428439	chr4:15556961-15749520	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv1012988	chr4:15597510-16091527	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	esv3464781	chr4:15607348-15613955	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv3464782	chr4:15607355-15613914	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	esv3464780	chr4:15607407-15613891	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv3464783	chr4:15607421-15613890	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:15537400-15621000	Weak transcription	Hela-S3	cervix
2	chr4:15550000-15617800	Weak transcription	Thymus	Thymus
3	chr4:15565400-15612600	Weak transcription	Brain Substantia Nigra	brain
4	chr4:15565400-15621400	Weak transcription	Esophagus	oesophagus
5	chr4:15565600-15611400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr4:15568400-15655600	Weak transcription	Gastric	stomach
7	chr4:15575200-15618000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr4:15587200-15612600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr4:15589800-15621400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr4:15590000-15615600	Weak transcription	Lung	lung
11	chr4:15590600-15626400	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr4:15593800-15621200	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr4:15594000-15609200	Weak transcription	Psoas Muscle	Psoas
14	chr4:15594600-15617800	Weak transcription	Right Ventricle	heart
15	chr4:15595400-15614000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr4:15595800-15611400	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr4:15596000-15608000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr4:15596000-15612800	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr4:15596600-15616400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr4:15596800-15610000	Weak transcription	Brain Cingulate Gyrus	brain
21	chr4:15597200-15620600	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr4:15598400-15608800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr4:15598600-15607800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr4:15598600-15611200	Strong transcription	HSMM	muscle
25	chr4:15599600-15610000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr4:15600600-15620800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr4:15600800-15653000	Weak transcription	Colonic Mucosa	Colon
28	chr4:15601000-15651600	Weak transcription	Small Intestine	intestine
29	chr4:15602000-15626000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr4:15602200-15609200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr4:15602200-15621200	Weak transcription	Rectal Smooth Muscle	rectum
32	chr4:15602400-15612600	Weak transcription	Brain Angular Gyrus	brain
33	chr4:15602400-15615600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr4:15602600-15615800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr4:15602600-15655600	Weak transcription	Pancreas	Pancrea
36	chr4:15603000-15624400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr4:15603200-15608000	Strong transcription	Dnd41	blood
38	chr4:15603800-15626800	Weak transcription	NHLF	lung
39	chr4:15604200-15617800	Weak transcription	Spleen	Spleen
40	chr4:15604400-15609200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr4:15604600-15612600	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr4:15604600-15615600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr4:15604600-15615600	Weak transcription	Aorta	Aorta
44	chr4:15604600-15615600	Weak transcription	Fetal Intestine Small	intestine
45	chr4:15604600-15615600	Weak transcription	Fetal Stomach	stomach
46	chr4:15604800-15612600	Weak transcription	NHEK	skin
47	chr4:15604800-15615600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr4:15604800-15615600	Weak transcription	Ovary	ovary
49	chr4:15604800-15617800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr4:15605200-15612800	Weak transcription	Placenta	Placenta

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