Variant report

Variant	rs3796500
Chromosome Location	chr4:129206983-129206984
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:129204507..129207479-chr4:129208517..129210960,6	K562	blood:
2	chr4:129206178..129209498-chr4:129731212..129733921,5	K562	blood:
3	chr4:129206178..129209105-chr4:129728853..129732712,4	K562	blood:

Variant related genes	Relation type
ENSG00000077684	Chromatin interaction
ENSG00000164040	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10001857	0.94[EUR][1000 genomes]
rs12509379	0.93[EUR][1000 genomes]
rs12647536	0.94[EUR][1000 genomes]
rs3733260	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs41300367	0.94[EUR][1000 genomes]
rs4975198	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62336172	0.81[ASN][1000 genomes]
rs7677888	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7680523	0.94[EUR][1000 genomes]
rs7681053	0.93[EUR][1000 genomes]
rs7681074	0.91[EUR][1000 genomes]
rs7682168	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9683654	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3390887	chr4:128932563-129207255	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats 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	25 gene(s)	inside rSNPs	diseases
2	nsv869258	chr4:129191619-130138148	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129173800-129207400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:129187800-129207200	Weak transcription	Aorta	Aorta
3	chr4:129189400-129207200	Weak transcription	Thymus	Thymus
4	chr4:129191400-129207800	Weak transcription	Esophagus	oesophagus
5	chr4:129191600-129207400	Weak transcription	Brain Hippocampus Middle	brain
6	chr4:129192600-129207800	Weak transcription	Lung	lung
7	chr4:129192800-129207200	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr4:129193000-129207400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr4:129193400-129207200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr4:129194600-129207200	Weak transcription	Fetal Thymus	thymus
11	chr4:129198400-129207800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr4:129204600-129207800	Weak transcription	Gastric	stomach
13	chr4:129204800-129210800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr4:129205200-129208200	Flanking Active TSS	Liver	Liver
15	chr4:129205200-129210000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr4:129205400-129207200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr4:129205400-129207200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr4:129205400-129207400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr4:129205400-129208600	Active TSS	Stomach Mucosa	stomach
20	chr4:129205400-129209800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr4:129205600-129207200	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
22	chr4:129205600-129207200	Enhancers	Fetal Lung	lung
23	chr4:129205600-129207200	Weak transcription	Fetal Muscle Leg	muscle
24	chr4:129205600-129207400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr4:129205600-129207400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
26	chr4:129205600-129207600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr4:129205600-129207600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr4:129205600-129210400	Active TSS	Fetal Intestine Small	intestine
29	chr4:129205600-129210600	Active TSS	iPS-20b Cell Line	embryonic stem cell
30	chr4:129205800-129207400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
31	chr4:129205800-129207400	Enhancers	Stomach Smooth Muscle	stomach
32	chr4:129205800-129207800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr4:129205800-129209800	Active TSS	Duodenum Mucosa	Duodenum
34	chr4:129205800-129210000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr4:129205800-129210200	Active TSS	iPS-15b Cell Line	embryonic stem cell
36	chr4:129205800-129210200	Active TSS	Rectal Mucosa Donor 29	rectum
37	chr4:129205800-129210600	Active TSS	Fetal Brain Female	brain
38	chr4:129206000-129207200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr4:129206000-129207400	Flanking Active TSS	HUVEC	blood vessel
40	chr4:129206000-129207800	Active TSS	HepG2	liver
41	chr4:129206000-129208200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr4:129206000-129209200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr4:129206000-129209800	Active TSS	HSMMtube	muscle
44	chr4:129206000-129210000	Active TSS	Fetal Stomach	stomach
45	chr4:129206000-129210000	Active TSS	NHLF	lung
46	chr4:129206000-129210200	Active TSS	HUES64 Cell Line	embryonic stem cell
47	chr4:129206000-129210200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr4:129206000-129210400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr4:129206000-129210400	Active TSS	iPS-18 Cell Line	embryonic stem cell
50	chr4:129206000-129210400	Active TSS	Duodenum Smooth Muscle	Duodenum

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