Variant report

Variant	rs112462498
Chromosome Location	chr4:77034171-77034172
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:77031133..77035310-chr4:77057270..77059295,3	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529613	chr4:76654941-77081576	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Active TSS ZNF genes & repeats 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 target site	38 gene(s)	inside rSNPs	diseases
2	nsv1009047	chr4:76989180-77077885	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv470047	chr4:77033590-77096777	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv594693	chr4:77033590-77101068	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv461558	chr4:77033725-77115553	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	nsv594694	chr4:77033725-77115553	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:77017000-77034400	Weak transcription	Right Ventricle	heart
2	chr4:77027200-77034400	Weak transcription	Fetal Muscle Leg	muscle
3	chr4:77027200-77035400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr4:77027600-77034200	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr4:77027600-77034400	Weak transcription	Brain Hippocampus Middle	brain
6	chr4:77027600-77037400	Weak transcription	Brain Substantia Nigra	brain
7	chr4:77027800-77034200	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr4:77027800-77034200	Weak transcription	Fetal Brain Female	brain
9	chr4:77027800-77036400	Weak transcription	Brain Angular Gyrus	brain
10	chr4:77027800-77038400	Weak transcription	Fetal Brain Male	brain
11	chr4:77028000-77037600	Weak transcription	Brain Cingulate Gyrus	brain
12	chr4:77028000-77068600	Weak transcription	Gastric	stomach
13	chr4:77028400-77034400	Weak transcription	K562	blood
14	chr4:77030000-77034400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr4:77030000-77037400	Weak transcription	NHDF-Ad	bronchial
16	chr4:77030600-77036400	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr4:77030600-77038400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr4:77030800-77034200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr4:77030800-77034400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr4:77031000-77034200	Weak transcription	HUVEC	blood vessel
21	chr4:77031200-77034200	Weak transcription	Osteobl	bone
22	chr4:77031200-77037800	Weak transcription	NHLF	lung
23	chr4:77031600-77034400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr4:77031600-77034800	Weak transcription	HMEC	breast
25	chr4:77031600-77039200	Weak transcription	Fetal Intestine Small	intestine
26	chr4:77031800-77034200	Weak transcription	Hela-S3	cervix
27	chr4:77031800-77036200	Weak transcription	Primary B cells from cord blood	blood
28	chr4:77031800-77036200	Weak transcription	Colon Smooth Muscle	Colon
29	chr4:77032000-77034200	Weak transcription	Fetal Kidney	kidney
30	chr4:77032000-77034400	Weak transcription	A549	lung
31	chr4:77032000-77036200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr4:77032000-77036400	Weak transcription	Aorta	Aorta
33	chr4:77032000-77037600	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr4:77032200-77034400	Weak transcription	Psoas Muscle	Psoas
35	chr4:77032200-77035200	Strong transcription	Left Ventricle	heart
36	chr4:77032200-77049200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr4:77032400-77034200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr4:77032400-77034200	Weak transcription	Esophagus	oesophagus
39	chr4:77032400-77034200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr4:77032400-77034200	Weak transcription	Fetal Thymus	thymus
41	chr4:77032400-77034400	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr4:77032400-77034400	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr4:77032400-77037400	Weak transcription	Stomach Smooth Muscle	stomach
44	chr4:77032400-77037600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr4:77032600-77034200	Weak transcription	Placenta	Placenta
46	chr4:77032600-77034400	Weak transcription	Ovary	ovary
47	chr4:77032600-77067600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr4:77032800-77034800	Weak transcription	Brain Germinal Matrix	brain
49	chr4:77032800-77036800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr4:77032800-77039600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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