Variant report

Variant	rs7110225
Chromosome Location	chr11:9606360-9606361
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:9605984-9606922	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr11:9606036-9606902	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr11:9606154-9606678	K562	blood:	n/a	n/a
4	POLR2A	chr11:9605898-9607335	HepG2	liver:	n/a	n/a
5	POLR2A	chr11:9605576-9606837	K562	blood:	n/a	n/a
6	POLR2A	chr11:9605403-9607202	PANC-1	pancreas:	n/a	n/a
7	POLR2A	chr11:9605529-9609382	K562	blood:	n/a	n/a
8	POLR2A	chr11:9605861-9606944	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr11:9606203-9606678	K562	blood:	n/a	n/a
10	POLR2A	chr11:9605999-9607015	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr11:9605674-9607422	IMR90	lung:	n/a	n/a
12	POLR2A	chr11:9605970-9606407	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr11:9605603-9606540	U87	brain:	n/a	n/a
14	POLR2A	chr11:9605723-9606845	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr11:9605756-9606986	PBDE	blood:	n/a	n/a
16	POLR2A	chr11:9605575-9607017	A549	lung:	n/a	n/a
17	POLR2A	chr11:9605989-9606736	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr11:9605388-9607994	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr11:9605738-9606686	PFSK-1	brain:	n/a	n/a
20	POLR2A	chr11:9605520-9607155	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:9601269..9603946-chr11:9604466..9607309,2	MCF-7	breast:
2	chr11:9604448..9606704-chr11:9634785..9637173,2	K562	blood:
3	chr11:9597023..9599212-chr11:9603843..9606476,2	MCF-7	breast:

No data

Variant related genes	Relation type
WEE1	TF binding region
ENSG00000166483	Chromatin interaction
ENSG00000243869	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1049403	0.91[ASN][1000 genomes]
rs10770041	0.87[AFR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10770042	0.95[ASN][1000 genomes]
rs10840263	0.92[ASN][1000 genomes]
rs10840265	0.90[ASN][1000 genomes]
rs10840266	0.91[ASN][1000 genomes]
rs11042429	0.81[AFR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11042431	0.95[ASN][1000 genomes]
rs12799030	0.95[ASN][1000 genomes]
rs4910482	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7107252	0.91[ASN][1000 genomes]
rs7927591	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427882	chr11:9431600-9626580	Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
2	nsv553467	chr11:9518551-9648721	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7110225	SWAP70	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9597000-9613400	Weak transcription	Gastric	stomach
2	chr11:9597000-9622000	Weak transcription	Spleen	Spleen
3	chr11:9597200-9635000	Weak transcription	Pancreas	Pancrea
4	chr11:9597600-9609600	Weak transcription	Brain Anterior Caudate	brain
5	chr11:9597600-9615200	Weak transcription	Brain Hippocampus Middle	brain
6	chr11:9598400-9612000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr11:9598600-9608800	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr11:9598600-9610800	Strong transcription	H9 Cell Line	embryonic stem cell
9	chr11:9598800-9611600	Strong transcription	Primary hematopoietic stem cells	blood
10	chr11:9599200-9608400	Weak transcription	Adipose Nuclei	Adipose
11	chr11:9599200-9612200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr11:9599400-9608600	Weak transcription	Psoas Muscle	Psoas
13	chr11:9599400-9610000	Weak transcription	Esophagus	oesophagus
14	chr11:9599400-9612200	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr11:9599400-9612400	Strong transcription	H1 Cell Line	embryonic stem cell
16	chr11:9599400-9612400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr11:9599400-9612400	Strong transcription	Fetal Thymus	thymus
18	chr11:9599600-9607800	Weak transcription	Primary T cells from cord blood	blood
19	chr11:9599600-9608000	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr11:9599600-9609800	Weak transcription	Colonic Mucosa	Colon
21	chr11:9599600-9610000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr11:9599600-9610600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr11:9599600-9611200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
24	chr11:9599600-9622800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr11:9599800-9607600	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr11:9599800-9612400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
27	chr11:9599800-9617000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr11:9599800-9622400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr11:9600000-9611600	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr11:9600000-9612000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr11:9600000-9612400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr11:9600200-9608200	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr11:9600200-9612000	Strong transcription	Osteobl	bone
34	chr11:9600200-9612600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
35	chr11:9600200-9612600	Strong transcription	HUVEC	blood vessel
36	chr11:9600200-9613400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr11:9600400-9612400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr11:9600400-9612600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr11:9600600-9612200	Strong transcription	Fetal Muscle Leg	muscle
40	chr11:9600800-9610800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr11:9600800-9611400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
42	chr11:9600800-9612200	Strong transcription	Fetal Muscle Trunk	muscle
43	chr11:9601000-9606400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr11:9601000-9606600	Strong transcription	Fetal Stomach	stomach
45	chr11:9601000-9610400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr11:9601000-9611000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr11:9601000-9611400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr11:9601000-9611400	Strong transcription	Fetal Lung	lung
49	chr11:9601000-9612000	Strong transcription	Liver	Liver
50	chr11:9601000-9612200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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