Variant report

Variant	rs59848421
Chromosome Location	chr5:96076836-96076837
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:96034750..96038584-chr5:96076223..96079664,4	K562	blood:
2	chr5:96035534..96040371-chr5:96075768..96079687,8	K562	blood:
3	chr5:96076665..96080894-chr5:96142161..96145119,4	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ERAP1-1	chr5:96076783-96077051	ENSG00000249180.1

Variant related genes	Relation type
ENSG00000164307	Chromatin interaction
ENSG00000153113	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs28613847	1.00[AMR][1000 genomes]
rs56255433	1.00[AMR][1000 genomes]
rs56299553	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56843965	1.00[AMR][1000 genomes]
rs58106243	1.00[AMR][1000 genomes]
rs61327006	1.00[AMR][1000 genomes]
rs61669951	1.00[AMR][1000 genomes]
rs73774352	1.00[AMR][1000 genomes]
rs73774354	1.00[AMR][1000 genomes]
rs73774360	1.00[AMR][1000 genomes]
rs73774361	1.00[AMR][1000 genomes]
rs73774362	1.00[AMR][1000 genomes]
rs73774364	1.00[AMR][1000 genomes]
rs73774367	1.00[AMR][1000 genomes]
rs73774369	1.00[AMR][1000 genomes]
rs73774375	1.00[AMR][1000 genomes]
rs73774385	1.00[AMR][1000 genomes]
rs73774386	1.00[AMR][1000 genomes]
rs73774388	1.00[AMR][1000 genomes]
rs73774389	1.00[AMR][1000 genomes]
rs73774390	1.00[AMR][1000 genomes]
rs73774391	1.00[AMR][1000 genomes]
rs73774392	1.00[AMR][1000 genomes]
rs73774393	1.00[AMR][1000 genomes]
rs73774397	1.00[AMR][1000 genomes]
rs73774399	1.00[AMR][1000 genomes]
rs73774400	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015173	chr5:95987366-96153392	Genic enhancers Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	nsv432755	chr5:95987984-96657483	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	nsv830411	chr5:96045168-96187817	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv598962	chr5:96057891-96893164	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	nsv516293	chr5:96070205-96216387	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 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	chr5:96054800-96077200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr5:96057800-96098600	Weak transcription	Fetal Brain Male	brain
3	chr5:96058000-96077200	Weak transcription	Small Intestine	intestine
4	chr5:96058000-96078200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr5:96062800-96081400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr5:96063000-96126200	Weak transcription	Brain Germinal Matrix	brain
7	chr5:96064600-96092600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:96066800-96077200	Weak transcription	Brain Cingulate Gyrus	brain
9	chr5:96066800-96079400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr5:96068200-96077200	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr5:96068200-96095400	Strong transcription	Primary T cells fromperipheralblood	blood
12	chr5:96068200-96100400	Strong transcription	Liver	Liver
13	chr5:96068400-96077400	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr5:96068400-96138200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr5:96068600-96130000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr5:96069200-96077200	Strong transcription	Rectal Mucosa Donor 31	rectum
17	chr5:96069400-96094000	Strong transcription	Fetal Muscle Leg	muscle
18	chr5:96069600-96094000	Strong transcription	Sigmoid Colon	Sigmoid Colon
19	chr5:96069800-96077400	Strong transcription	Primary B cells from cord blood	blood
20	chr5:96070200-96077400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr5:96070200-96083400	Strong transcription	Duodenum Mucosa	Duodenum
22	chr5:96070200-96087800	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr5:96070200-96116400	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr5:96070400-96077200	Weak transcription	Stomach Mucosa	stomach
25	chr5:96070600-96079200	Strong transcription	Placenta	Placenta
26	chr5:96070800-96095400	Strong transcription	Primary B cells from peripheral blood	blood
27	chr5:96071000-96078400	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr5:96071000-96112800	Strong transcription	Hela-S3	cervix
29	chr5:96071200-96077200	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr5:96071200-96078600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr5:96071200-96085000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr5:96071200-96088000	Strong transcription	A549	lung
33	chr5:96071200-96094000	Strong transcription	HSMM	muscle
34	chr5:96071400-96078400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr5:96071400-96078600	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr5:96071400-96078600	Weak transcription	Right Atrium	heart
37	chr5:96071400-96113000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr5:96071400-96126600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr5:96071600-96103200	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr5:96071800-96077200	Strong transcription	Primary neutrophils fromperipheralblood	blood
41	chr5:96071800-96078400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr5:96071800-96083400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr5:96071800-96084200	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr5:96072000-96077400	Strong transcription	Duodenum Smooth Muscle	Duodenum
45	chr5:96072000-96079200	Strong transcription	Adipose Nuclei	Adipose
46	chr5:96072200-96079000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr5:96072400-96078600	Strong transcription	Osteobl	bone
48	chr5:96072400-96086400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr5:96072400-96088400	Strong transcription	Primary T helper cells PMA-I stimulated	--
50	chr5:96072600-96079000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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