Variant report

Variant	rs183877313
Chromosome Location	chr5:61627164-61627165
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:61623920..61625497-chr5:61625938..61627625,2	K562	blood:
2	chr5:61611699..61613753-chr5:61626529..61628835,2	K562	blood:
3	chr5:61601051..61603243-chr5:61625747..61628315,2	K562	blood:
4	chr5:61622140..61623707-chr5:61625823..61627844,2	K562	blood:

Variant related genes	Relation type
ENSG00000068796	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024090	chr5:61258759-61921150	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer 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	36 gene(s)	inside rSNPs	diseases
2	esv2757996	chr5:61403138-61687817	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	esv2759345	chr5:61403138-61748912	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv1020255	chr5:61451792-62031365	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv1027539	chr5:61457762-62000008	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	nsv881726	chr5:61556730-61676911	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
7	nsv881727	chr5:61578041-61700970	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	23 gene(s)	inside rSNPs	diseases
8	nsv1033578	chr5:61606610-61911153	Active TSS Strong transcription Enhancers Weak transcription Flanking 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	29 gene(s)	inside rSNPs	diseases
9	nsv1025145	chr5:61624735-61824265	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
10	nsv1029708	chr5:61625813-61877628	Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:61603200-61629200	Weak transcription	Lung	lung
2	chr5:61603200-61629200	Weak transcription	Spleen	Spleen
3	chr5:61603400-61658600	Weak transcription	Aorta	Aorta
4	chr5:61603600-61629200	Weak transcription	Psoas Muscle	Psoas
5	chr5:61603800-61629200	Weak transcription	Left Ventricle	heart
6	chr5:61604000-61629000	Weak transcription	Thymus	Thymus
7	chr5:61604400-61629200	Weak transcription	Esophagus	oesophagus
8	chr5:61604400-61629400	Weak transcription	Pancreas	Pancrea
9	chr5:61604400-61643800	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr5:61604600-61630000	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr5:61604600-61658600	Weak transcription	Fetal Kidney	kidney
12	chr5:61606800-61629400	Weak transcription	Fetal Thymus	thymus
13	chr5:61607200-61627200	Weak transcription	Fetal Lung	lung
14	chr5:61607200-61629200	Weak transcription	HSMMtube	muscle
15	chr5:61607800-61669400	Weak transcription	NHLF	lung
16	chr5:61610200-61658600	Weak transcription	Ovary	ovary
17	chr5:61610400-61629400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr5:61611400-61629200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr5:61611600-61630200	Weak transcription	Fetal Intestine Large	intestine
20	chr5:61611600-61639000	Weak transcription	HMEC	breast
21	chr5:61611600-61643800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr5:61611800-61630000	Weak transcription	NHEK	skin
23	chr5:61612000-61642400	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr5:61612000-61661000	Weak transcription	Colon Smooth Muscle	Colon
25	chr5:61612200-61628600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr5:61614600-61629000	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr5:61615600-61627200	Weak transcription	Small Intestine	intestine
28	chr5:61615600-61629200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr5:61615600-61658600	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr5:61618000-61629200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr5:61618000-61629200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr5:61618000-61629400	Weak transcription	Fetal Stomach	stomach
33	chr5:61618200-61629600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr5:61618200-61647800	Weak transcription	Duodenum Mucosa	Duodenum
35	chr5:61618400-61629000	Weak transcription	Fetal Intestine Small	intestine
36	chr5:61618400-61629200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr5:61618400-61658600	Weak transcription	Hela-S3	cervix
38	chr5:61618600-61629000	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr5:61618600-61629000	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr5:61618600-61629400	Weak transcription	Placenta	Placenta
41	chr5:61619200-61630000	Weak transcription	Colonic Mucosa	Colon
42	chr5:61620200-61629200	Enhancers	Brain Substantia Nigra	brain
43	chr5:61620400-61627200	Enhancers	Brain Hippocampus Middle	brain
44	chr5:61620400-61627400	Enhancers	Primary T helper naive cells from peripheral blood	blood
45	chr5:61621000-61628000	Enhancers	Primary T helper cells fromperipheralblood	blood
46	chr5:61621200-61628200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
47	chr5:61621400-61628400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr5:61621600-61629200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr5:61621600-61631600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr5:61621800-61627200	Enhancers	Brain Anterior Caudate	brain

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