Variant report

Variant	rs7559420
Chromosome Location	chr2:86314753-86314754
allele	A/C
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	chr2:86314506..86319656-chr2:86325341..86328897,6	K562	blood:
2	chr2:86309842..86313098-chr2:86314384..86317204,4	K562	blood:
3	chr2:86313823..86316609-chr2:86331771..86333725,2	K562	blood:
4	chr2:86314125..86315912-chr2:86318728..86321490,2	MCF-7	breast:
5	chr2:86309970..86313098-chr2:86314299..86317204,4	K562	blood:
6	chr2:86313938..86316670-chr2:86316861..86318570,2	K562	blood:
7	chr2:86314332..86316329-chr2:86331734..86334521,4	MCF-7	breast:
8	chr2:86313697..86322384-chr2:86325397..86334676,16	K562	blood:

No data

Variant related genes	Relation type
ENSG00000068654	Chromatin interaction
ENSG00000132300	Chromatin interaction

Extended variants
information (count: 82 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10165327	0.84[AMR][1000 genomes]
rs10176454	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10179090	0.84[AMR][1000 genomes]
rs10183744	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10187547	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1019592	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1025104	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10427394	0.84[AMR][1000 genomes]
rs1075622	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11127012	0.97[ASN][1000 genomes]
rs11679343	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11686963	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11694973	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12053229	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12714168	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1424517	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1559515	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1559517	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1834163	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1991106	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2018547	0.88[ASN][1000 genomes]
rs2241436	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2278086	0.90[ASN][1000 genomes]
rs2288118	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2288119	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2288120	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2288121	0.84[AMR][1000 genomes]
rs2367201	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2367202	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3088038	0.90[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs311563	1.00[ASN][1000 genomes]
rs311565	1.00[ASN][1000 genomes]
rs311569	1.00[ASN][1000 genomes]
rs311571	1.00[ASN][1000 genomes]
rs311572	0.98[ASN][1000 genomes]
rs311573	1.00[ASN][1000 genomes]
rs311587	0.96[ASN][1000 genomes]
rs3731820	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3770069	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4618054	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4832021	1.00[ASN][1000 genomes]
rs4832022	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4832241	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4832242	0.84[AMR][1000 genomes]
rs4832245	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4832246	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4832247	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4832248	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4832249	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4832251	0.98[ASN][1000 genomes]
rs59947468	0.92[ASN][1000 genomes]
rs60479377	0.92[ASN][1000 genomes]
rs60719866	0.92[ASN][1000 genomes]
rs61620607	0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6720327	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6740228	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6741577	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6750581	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6759862	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs725046	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7562837	0.89[ASN][1000 genomes]
rs7598787	0.90[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7606421	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2751903	chr2:86253542-86505453	Active TSS Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS 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 miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv531380	chr2:86253552-86469217	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv870120	chr2:86265437-86343058	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
4	nsv1007474	chr2:86281967-86505453	Enhancers Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	nsv997563	chr2:86281967-86506132	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	nsv1008924	chr2:86282722-86499402	Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
7	nsv999956	chr2:86285944-86505453	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers 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 lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
8	nsv1012768	chr2:86285944-86506132	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
9	nsv1003207	chr2:86286314-86496732	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
10	nsv1000441	chr2:86286314-86508168	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking 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 miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
11	nsv535808	chr2:86286314-86508168	Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
12	nsv1004442	chr2:86286480-86506132	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
13	nsv916616	chr2:86289130-86509326	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
14	nsv458563	chr2:86292341-86507688	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
15	nsv582370	chr2:86292341-86507688	Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Genic enhancers 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 miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
16	nsv1009140	chr2:86294939-86506132	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
17	nsv582371	chr2:86296566-86507688	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
18	nsv531381	chr2:86301091-86478346	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
19	nsv1001157	chr2:86301440-86508168	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs7559420	MRPL35	Cis_1M	lymphoblastoid	RTeQTL
rs7559420	POLR1A	cis	Nerve Tibial	GTEx
rs7559420	POLR1A,LOC90784	cis	brain	BrainEAC
rs7559420	POLR1A	cis	Thyroid	GTEx
rs7559420	POLR1A	cis	Esophagus Muscularis	GTEx
rs7559420	POLR1A	cis	Artery Tibial	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86252000-86331200	Strong transcription	HUES64 Cell Line	embryonic stem cell
2	chr2:86264000-86332000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:86265200-86330000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:86286000-86331000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
5	chr2:86286000-86331200	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr2:86290800-86318600	Strong transcription	K562	blood
7	chr2:86290800-86322600	Strong transcription	H1 Cell Line	embryonic stem cell
8	chr2:86291600-86319000	Strong transcription	Cortex derived primary cultured neurospheres	brain
9	chr2:86291800-86318800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:86292800-86331000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr2:86295200-86323200	Strong transcription	Fetal Stomach	stomach
12	chr2:86296000-86322400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr2:86300000-86318200	Strong transcription	Placenta	Placenta
14	chr2:86300000-86323000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr2:86300000-86331800	Weak transcription	Stomach Mucosa	stomach
16	chr2:86301200-86318200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr2:86304600-86322400	Strong transcription	Fetal Muscle Trunk	muscle
18	chr2:86306200-86327600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr2:86307800-86322000	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr2:86307800-86327600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr2:86307800-86331000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr2:86308000-86315600	Weak transcription	Colonic Mucosa	Colon
23	chr2:86308000-86319800	Strong transcription	Primary T cells from cord blood	blood
24	chr2:86308000-86320800	Weak transcription	Fetal Brain Male	brain
25	chr2:86308000-86328400	Strong transcription	Dnd41	blood
26	chr2:86308000-86330800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr2:86308200-86315400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr2:86308200-86315400	Weak transcription	Small Intestine	intestine
29	chr2:86308200-86316000	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr2:86308200-86316200	Weak transcription	HUVEC	blood vessel
31	chr2:86308200-86322200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr2:86308200-86322400	Strong transcription	Fetal Muscle Leg	muscle
33	chr2:86308200-86325000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr2:86308400-86324600	Weak transcription	Fetal Heart	heart
35	chr2:86308600-86315600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr2:86308600-86330000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr2:86308800-86318400	Strong transcription	A549	lung
38	chr2:86309400-86322600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr2:86309600-86318400	Strong transcription	Primary T helper cells PMA-I stimulated	--
40	chr2:86310000-86318000	Strong transcription	HSMM	muscle
41	chr2:86310200-86322400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr2:86311000-86318200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr2:86311000-86322400	Strong transcription	Fetal Intestine Small	intestine
44	chr2:86311400-86322400	Strong transcription	Sigmoid Colon	Sigmoid Colon
45	chr2:86311400-86322600	Strong transcription	Duodenum Mucosa	Duodenum
46	chr2:86311600-86318200	Strong transcription	Liver	Liver
47	chr2:86311600-86318600	Strong transcription	Primary T cells fromperipheralblood	blood
48	chr2:86311800-86318000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr2:86311800-86318800	Strong transcription	Osteobl	bone
50	chr2:86311800-86328800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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