Variant report

Variant	rs2603636
Chromosome Location	chr5:43079102-43079103
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:43076850..43080824-chr5:43095095..43097959,3	K562	blood:
2	chr5:43064084..43067550-chr5:43078296..43080373,3	K562	blood:
3	chr5:43077895..43080643-chr5:43081043..43085199,4	MCF-7	breast:
4	chr5:43064084..43066888-chr5:43078296..43080622,3	K562	blood:
5	chr5:43078366..43081197-chr5:43092344..43095133,2	K562	blood:
6	chr5:43074312..43077357-chr5:43077925..43083201,8	K562	blood:
7	chr5:43078520..43080720-chr5:43120036..43121889,2	MCF-7	breast:
8	chr5:43078395..43080748-chr5:43104013..43106057,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000172262	Chromatin interaction
ENSG00000177738	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10522	0.82[ASN][1000 genomes]
rs13169690	0.81[ASN][1000 genomes]
rs1574407	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs160709	0.81[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs178415	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs222060	0.81[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs2329994	0.82[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs2603295	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs316395	0.83[ASN][1000 genomes]
rs316396	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs316400	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs316402	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs316403	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs316404	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs316406	0.90[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs316408	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs316413	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs316419	0.83[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs316422	0.83[ASN][1000 genomes]
rs4092293	0.82[ASN][1000 genomes]
rs4092294	0.82[ASN][1000 genomes]
rs515970	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs543569	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs565761	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs613825	0.83[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs643307	0.82[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs6875214	0.80[ASN][1000 genomes]
rs768441	0.82[ASN][1000 genomes]
rs9292862	0.83[AFR][1000 genomes];0.83[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	nsv993554	chr5:42720939-43251863	Bivalent/Poised TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	298 gene(s)	inside rSNPs	diseases
2	nsv462126	chr5:42728831-43237188	Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Strong transcription 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	297 gene(s)	inside rSNPs	diseases
3	nsv597925	chr5:42728831-43237188	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
4	nsv1023741	chr5:42768215-43348145	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers 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 lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
5	nsv537737	chr5:42768215-43348145	Genic enhancers Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
6	nsv1024636	chr5:42959979-43295782	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
7	nsv537739	chr5:42959979-43295782	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
8	nsv870299	chr5:43053679-43107880	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2603636	ZNF131	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43068600-43082600	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr5:43069000-43081400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:43069400-43082800	Weak transcription	Colonic Mucosa	Colon
4	chr5:43069400-43087400	Weak transcription	Stomach Mucosa	stomach
5	chr5:43069600-43080400	Strong transcription	Fetal Muscle Trunk	muscle
6	chr5:43069600-43080400	Strong transcription	Fetal Muscle Leg	muscle
7	chr5:43070000-43105400	Weak transcription	HSMMtube	muscle
8	chr5:43071400-43084400	Weak transcription	Fetal Kidney	kidney
9	chr5:43071600-43080800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr5:43071600-43083800	Weak transcription	HepG2	liver
11	chr5:43071600-43084200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr5:43071800-43079600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr5:43071800-43080000	Weak transcription	Duodenum Mucosa	Duodenum
14	chr5:43071800-43080000	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr5:43071800-43080200	Weak transcription	Brain Cingulate Gyrus	brain
16	chr5:43071800-43080200	Weak transcription	Gastric	stomach
17	chr5:43071800-43081400	Weak transcription	Fetal Brain Male	brain
18	chr5:43071800-43081800	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr5:43071800-43081800	Weak transcription	Hela-S3	cervix
20	chr5:43071800-43082000	Weak transcription	HMEC	breast
21	chr5:43071800-43082800	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr5:43071800-43083000	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr5:43071800-43084800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr5:43071800-43091000	Weak transcription	Colon Smooth Muscle	Colon
25	chr5:43071800-43091600	Weak transcription	Ovary	ovary
26	chr5:43071800-43096000	Weak transcription	Aorta	Aorta
27	chr5:43071800-43098400	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr5:43071800-43101600	Weak transcription	Esophagus	oesophagus
29	chr5:43071800-43105400	Weak transcription	Rectal Smooth Muscle	rectum
30	chr5:43072000-43079800	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr5:43072000-43080600	Weak transcription	Brain Substantia Nigra	brain
32	chr5:43072000-43081800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr5:43072400-43104200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr5:43073000-43080400	Weak transcription	HSMM	muscle
35	chr5:43073400-43079800	Weak transcription	Primary B cells from peripheral blood	blood
36	chr5:43073400-43080400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr5:43074000-43082600	Strong transcription	Fetal Thymus	thymus
38	chr5:43074400-43082400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr5:43074800-43082200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr5:43075000-43081400	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr5:43075200-43081600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr5:43075400-43080000	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr5:43075400-43082600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr5:43075400-43084400	Weak transcription	Fetal Lung	lung
45	chr5:43075600-43081200	Strong transcription	Dnd41	blood
46	chr5:43075600-43096600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr5:43075600-43101600	Weak transcription	Left Ventricle	heart
48	chr5:43075600-43105000	Weak transcription	NHLF	lung
49	chr5:43075600-43105400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr5:43075600-43105400	Weak transcription	Psoas Muscle	Psoas

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