Variant report

Variant	rs55672502
Chromosome Location	chr5:16873121-16873122
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	chr5:16866302..16868236-chr5:16870431..16873276,2	K562	blood:
2	chr5:16870568..16873401-chr5:16875593..16878423,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs10520845	0.92[EUR][1000 genomes]
rs13360319	0.97[ASN][1000 genomes]

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	nsv1025225	chr5:16714512-17234866	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1015247	chr5:16748966-17133274	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	esv2762500	chr5:16815489-16952565	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
4	nsv880277	chr5:16829442-17316288	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv1026773	chr5:16846836-16877367	Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv1034844	chr5:16854341-16903100	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	esv3485757	chr5:16856475-16966851	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
8	esv3485758	chr5:16856475-16966851	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:16862400-16873200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr5:16863400-16873400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr5:16863600-16873200	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr5:16865200-16884600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr5:16865600-16878400	Weak transcription	Fetal Brain Male	brain
6	chr5:16867400-16880600	Weak transcription	Stomach Smooth Muscle	stomach
7	chr5:16867600-16873400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr5:16867600-16873400	Weak transcription	Lung	lung
9	chr5:16867600-16873400	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr5:16867600-16877400	Weak transcription	Gastric	stomach
11	chr5:16867600-16880800	Weak transcription	Fetal Kidney	kidney
12	chr5:16867600-16883600	Weak transcription	Colonic Mucosa	Colon
13	chr5:16867600-16885800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr5:16867600-16889000	Weak transcription	Spleen	Spleen
15	chr5:16867800-16873200	Weak transcription	Duodenum Mucosa	Duodenum
16	chr5:16867800-16873400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:16867800-16873400	Weak transcription	Fetal Intestine Large	intestine
18	chr5:16867800-16874800	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr5:16867800-16878000	Weak transcription	Stomach Mucosa	stomach
20	chr5:16868000-16873400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr5:16868400-16873200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr5:16868800-16876600	Weak transcription	Fetal Muscle Trunk	muscle
23	chr5:16869200-16873200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr5:16869200-16873200	Weak transcription	Fetal Muscle Leg	muscle
25	chr5:16869800-16873400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr5:16869800-16873400	Weak transcription	Esophagus	oesophagus
27	chr5:16870000-16873400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr5:16870400-16876800	Weak transcription	Placenta	Placenta
29	chr5:16870600-16873200	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr5:16870600-16873400	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr5:16870600-16873400	Weak transcription	Fetal Stomach	stomach
32	chr5:16870600-16879400	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr5:16870800-16873200	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr5:16870800-16873200	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr5:16871200-16886000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr5:16871400-16873600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr5:16871800-16876400	Weak transcription	Pancreas	Pancrea
38	chr5:16872000-16873600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr5:16872000-16876000	Strong transcription	Fetal Lung	lung
40	chr5:16872200-16873400	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr5:16872200-16874800	ZNF genes & repeats	Fetal Intestine Small	intestine
42	chr5:16872200-16877600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr5:16872400-16873400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr5:16872400-16873400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr5:16872400-16873400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr5:16872400-16873400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr5:16872400-16873400	Weak transcription	Left Ventricle	heart
48	chr5:16872400-16873400	Strong transcription	HUVEC	blood vessel
49	chr5:16872400-16874800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr5:16872400-16875000	Weak transcription	NHEK	skin

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