Variant report

Variant	rs193198227
Chromosome Location	chr4:87280241-87280242
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr4:87278477-87282033	H1-neurons	neurons:	n/a	chr4:87279606-87279626 chr4:87279657-87279677
2	MXI1	chr4:87277968-87282010	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
MAPK10	TF binding region

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	nsv594786	chr4:87076360-87609320	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
2	nsv999470	chr4:87165663-87514552	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
3	nsv537164	chr4:87165663-87514552	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
4	nsv934210	chr4:87197339-87325578	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv594787	chr4:87221827-87888667	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv1012836	chr4:87279206-87643558	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87264400-87280600	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr4:87272200-87280600	Weak transcription	Adipose Nuclei	Adipose
3	chr4:87272600-87280600	Weak transcription	Fetal Lung	lung
4	chr4:87273800-87280600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr4:87275600-87302400	Weak transcription	Aorta	Aorta
6	chr4:87276400-87281800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr4:87276800-87282000	Active TSS	Brain Angular Gyrus	brain
8	chr4:87277200-87280600	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr4:87277400-87280600	Active TSS	Brain Germinal Matrix	brain
10	chr4:87277600-87282200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr4:87278000-87281600	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr4:87278200-87280800	Weak transcription	GM12878-XiMat	blood
13	chr4:87278200-87281400	Active TSS	Fetal Brain Male	brain
14	chr4:87278200-87281800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
15	chr4:87278400-87282200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr4:87278400-87282400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr4:87278800-87281600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr4:87278800-87281800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr4:87278800-87281800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
20	chr4:87279000-87280600	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr4:87279000-87281600	Active TSS	Brain Hippocampus Middle	brain
22	chr4:87279000-87281800	Active TSS	Brain Anterior Caudate	brain
23	chr4:87279000-87282000	Active TSS	Brain Inferior Temporal Lobe	brain
24	chr4:87279200-87281600	Active TSS	Brain Cingulate Gyrus	brain
25	chr4:87279200-87281800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
26	chr4:87279200-87281800	Active TSS	Brain Substantia Nigra	brain
27	chr4:87279400-87280400	Active TSS	iPS-20b Cell Line	embryonic stem cell
28	chr4:87279400-87280400	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr4:87279400-87280800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
30	chr4:87279400-87281000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr4:87279400-87282200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr4:87279600-87280400	Enhancers	Stomach Smooth Muscle	stomach
33	chr4:87279600-87280600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr4:87279600-87280800	Enhancers	Fetal Muscle Leg	muscle
35	chr4:87279600-87280800	Enhancers	Fetal Thymus	thymus
36	chr4:87279600-87281200	Weak transcription	Esophagus	oesophagus
37	chr4:87279600-87281200	Weak transcription	Gastric	stomach
38	chr4:87279600-87281200	Weak transcription	Psoas Muscle	Psoas
39	chr4:87279800-87280400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr4:87279800-87280400	Enhancers	Fetal Stomach	stomach
41	chr4:87279800-87280400	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr4:87279800-87280600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr4:87279800-87280600	Weak transcription	Ovary	ovary
44	chr4:87279800-87280600	Active TSS	Skeletal Muscle Male	skeletal muscle
45	chr4:87279800-87280800	Weak transcription	Colon Smooth Muscle	Colon
46	chr4:87280000-87280400	Active TSS	iPS-18 Cell Line	embryonic stem cell
47	chr4:87280000-87280400	Active TSS	Fetal Kidney	kidney
48	chr4:87280000-87280600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr4:87280000-87280800	Active TSS	ES-I3 Cell Line	embryonic stem cell
50	chr4:87280000-87281600	Bivalent/Poised TSS	Fetal Intestine Small	intestine

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