Variant report

Variant	rs181769817
Chromosome Location	chr4:100496013-100496014
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	chr4:100483825..100487294-chr4:100492777..100496037,4	K562	blood:
2	chr4:100483825..100487771-chr4:100493784..100496037,3	K562	blood:

Variant related genes	Relation type
ENSG00000138823	Chromatin interaction
ENSG00000145331	Chromatin interaction

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

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	nsv879656	chr4:99976646-100533722	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv933074	chr4:100460951-100630600	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv1833664	chr4:100495571-100504985	Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:100495000-100496400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr4:100495400-100496200	Flanking Active TSS	Liver	Liver
3	chr4:100495400-100497000	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr4:100495600-100497000	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr4:100495600-100497200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr4:100495600-100500400	Active TSS	Fetal Intestine Large	intestine
7	chr4:100495800-100496200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:100495800-100496200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
9	chr4:100495800-100496200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr4:100495800-100496200	Enhancers	Colon Smooth Muscle	Colon
11	chr4:100495800-100496200	Active TSS	Rectal Smooth Muscle	rectum
12	chr4:100495800-100496200	Enhancers	Stomach Mucosa	stomach
13	chr4:100495800-100496400	Enhancers	H1 Cell Line	embryonic stem cell
14	chr4:100495800-100496400	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr4:100495800-100496400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
16	chr4:100495800-100496400	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr4:100495800-100496400	Enhancers	Primary B cells from cord blood	blood
18	chr4:100495800-100496400	Active TSS	Brain Anterior Caudate	brain
19	chr4:100495800-100496400	Flanking Active TSS	Stomach Smooth Muscle	stomach
20	chr4:100495800-100496600	Enhancers	Primary B cells from peripheral blood	blood
21	chr4:100495800-100496600	Active TSS	Aorta	Aorta
22	chr4:100495800-100496600	Active TSS	Ovary	ovary
23	chr4:100495800-100496600	Flanking Active TSS	GM12878-XiMat	blood
24	chr4:100495800-100500400	Active TSS	Fetal Intestine Small	intestine
25	chr4:100495800-100500800	Active TSS	Duodenum Mucosa	Duodenum
26	chr4:100496000-100496200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr4:100496000-100496400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
28	chr4:100496000-100496400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
29	chr4:100496000-100496400	Active TSS	Brain Substantia Nigra	brain
30	chr4:100496000-100496600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
31	chr4:100496000-100497000	Active TSS	Fetal Kidney	kidney
32	chr4:100496000-100497200	Active TSS	Duodenum Smooth Muscle	Duodenum
33	chr4:100496000-100497600	Active TSS	HepG2	liver

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