Variant report

Variant	rs181240080
Chromosome Location	chr4:99814241-99814242
allele	A/G
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	POLR2A	chr4:99813651-99814489	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:99804091..99805987-chr4:99813015..99814589,2	K562	blood:

Variant related genes	Relation type
EIF4E	TF binding region

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

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009017	chr4:99669441-100406394	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv879654	chr4:99748988-99877402	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv879655	chr4:99783733-99843113	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv822666	chr4:99813093-99817037	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv821288	chr4:99813093-99818986	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv819967	chr4:99813509-99817841	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	esv20331	chr4:99813534-99818241	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	esv1000667	chr4:99813658-99817037	Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	3 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	chr4:99792400-99825000	Weak transcription	Gastric	stomach
2	chr4:99796000-99826400	Weak transcription	Right Ventricle	heart
3	chr4:99796800-99814400	Weak transcription	Fetal Brain Male	brain
4	chr4:99797000-99826600	Weak transcription	Brain Cingulate Gyrus	brain
5	chr4:99797400-99815200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:99798400-99823000	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr4:99798600-99824400	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr4:99799000-99823000	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr4:99799800-99823200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr4:99800000-99815000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr4:99800200-99823400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr4:99800400-99823200	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr4:99800600-99824200	Strong transcription	Primary B cells from peripheral blood	blood
14	chr4:99801400-99814400	Weak transcription	Psoas Muscle	Psoas
15	chr4:99801600-99829400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr4:99802200-99815200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr4:99802200-99824000	Strong transcription	Primary T helper cells PMA-I stimulated	--
18	chr4:99802600-99823800	Strong transcription	Fetal Thymus	thymus
19	chr4:99802600-99824400	Strong transcription	Dnd41	blood
20	chr4:99802800-99819600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr4:99802800-99824600	Weak transcription	Pancreas	Pancrea
22	chr4:99802800-99830200	Weak transcription	Ovary	ovary
23	chr4:99802800-99849000	Weak transcription	Aorta	Aorta
24	chr4:99803000-99825000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr4:99803200-99816000	Weak transcription	Stomach Mucosa	stomach
26	chr4:99803200-99824200	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr4:99803400-99817400	Weak transcription	NHLF	lung
28	chr4:99804400-99848800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr4:99804600-99838400	Weak transcription	Esophagus	oesophagus
30	chr4:99804800-99816800	Strong transcription	HSMM	muscle
31	chr4:99804800-99820600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr4:99805000-99823200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
33	chr4:99805200-99832000	Weak transcription	Spleen	Spleen
34	chr4:99805600-99815200	Strong transcription	Primary hematopoietic stem cells	blood
35	chr4:99805800-99817200	Strong transcription	Osteobl	bone
36	chr4:99806000-99815800	Weak transcription	Small Intestine	intestine
37	chr4:99807200-99815400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr4:99807200-99849000	Weak transcription	Colonic Mucosa	Colon
39	chr4:99807400-99822000	Weak transcription	Hela-S3	cervix
40	chr4:99807400-99826400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr4:99807600-99824000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr4:99807800-99817800	Weak transcription	Lung	lung
43	chr4:99807800-99822200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr4:99807800-99822400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr4:99807800-99832000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr4:99808000-99815800	Weak transcription	Fetal Intestine Small	intestine
47	chr4:99808000-99817400	Weak transcription	HSMMtube	muscle
48	chr4:99808000-99822000	Weak transcription	Colon Smooth Muscle	Colon
49	chr4:99808000-99841400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr4:99808200-99816000	Weak transcription	Brain Anterior Caudate	brain

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