Variant report

Variant	rs13074229
Chromosome Location	chr3:111826295-111826296
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr3:111826073-111826413	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:111803618..111805718-chr3:111824447..111826548,2	MCF-7	breast:
2	chr3:111818917..111821397-chr3:111825359..111828351,2	MCF-7	breast:
3	chr3:111824816..111827651-chr3:111837771..111840373,2	K562	blood:

Variant related genes	Relation type
C3orf52	TF binding region
ENSG00000114529	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10934145	0.85[CEU][hapmap]
rs11707558	0.85[CEU][hapmap]
rs11824	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11922559	0.88[CEU][hapmap]
rs12488760	0.85[CEU][hapmap]
rs12634769	0.85[CEU][hapmap]
rs13066495	0.85[CEU][hapmap];0.89[EUR][1000 genomes]
rs2120095	0.89[CEU][hapmap];0.85[EUR][1000 genomes]
rs340163	0.81[CEU][hapmap]
rs340165	0.92[CEU][hapmap];0.94[CHB][hapmap];0.92[JPT][hapmap];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs340172	0.96[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3856723	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4234412	0.85[CEU][hapmap]
rs4234413	0.85[CEU][hapmap]
rs4282033	0.88[CEU][hapmap]
rs4392388	0.85[CEU][hapmap]
rs4401342	0.85[CEU][hapmap]
rs4505669	0.85[CEU][hapmap]
rs4560270	0.84[CEU][hapmap]
rs4632517	0.81[CEU][hapmap]
rs4682097	0.87[CEU][hapmap]
rs4682355	0.94[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.95[ASN][1000 genomes]
rs4682357	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4682380	0.85[CEU][hapmap]
rs6773916	0.89[CEU][hapmap]
rs6781344	0.88[CEU][hapmap]
rs6798551	0.85[CEU][hapmap]
rs729641	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs746026	0.86[CEU][hapmap];0.91[EUR][1000 genomes]
rs746027	0.91[EUR][1000 genomes]
rs7613061	0.88[CEU][hapmap]
rs7616261	0.85[CEU][hapmap]
rs7624367	0.88[CEU][hapmap]
rs7638520	0.88[CEU][hapmap]
rs923745	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9758396	0.85[CEU][hapmap]
rs9809384	0.88[CEU][hapmap]
rs9809404	0.88[CEU][hapmap]
rs9822786	0.88[CEU][hapmap]
rs9823421	0.85[CEU][hapmap]
rs9826043	0.85[CEU][hapmap]
rs9847574	0.83[CEU][hapmap]
rs9860819	0.85[CEU][hapmap]
rs9863061	0.81[CEU][hapmap]
rs9878213	0.88[CEU][hapmap]
rs9879184	0.88[CEU][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2755927	chr3:111794310-111834310	Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:111810400-111852000	Weak transcription	Esophagus	oesophagus
2	chr3:111812000-111844000	Weak transcription	Colonic Mucosa	Colon
3	chr3:111812000-111845600	Weak transcription	Duodenum Mucosa	Duodenum
4	chr3:111812200-111828000	Weak transcription	Left Ventricle	heart
5	chr3:111812200-111853000	Weak transcription	Right Ventricle	heart
6	chr3:111812400-111832000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr3:111812400-111835800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr3:111812600-111828000	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr3:111812600-111840200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr3:111814400-111836000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr3:111817000-111828000	Weak transcription	Stomach Mucosa	stomach
12	chr3:111817200-111831400	Weak transcription	Hela-S3	cervix
13	chr3:111817200-111833600	Weak transcription	HSMMtube	muscle
14	chr3:111819000-111840400	Weak transcription	Fetal Stomach	stomach
15	chr3:111819600-111847800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr3:111820800-111828400	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr3:111821000-111831800	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr3:111821000-111835800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr3:111821200-111830400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr3:111821200-111832000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr3:111821200-111833800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr3:111821200-111833800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr3:111821200-111834000	Weak transcription	HSMM	muscle
24	chr3:111821200-111843600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr3:111821400-111839000	Weak transcription	Osteobl	bone
26	chr3:111821400-111843600	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr3:111821600-111830000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr3:111821600-111834800	Weak transcription	HUVEC	blood vessel
29	chr3:111822000-111826800	Strong transcription	HMEC	breast
30	chr3:111822000-111844600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr3:111822200-111827400	Strong transcription	NHEK	skin
32	chr3:111822400-111839200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr3:111822600-111833600	Weak transcription	Fetal Intestine Small	intestine
34	chr3:111822800-111826400	Weak transcription	Fetal Heart	heart
35	chr3:111822800-111835600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr3:111823000-111831600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr3:111823000-111834400	Weak transcription	A549	lung
38	chr3:111823200-111827000	Strong transcription	Thymus	Thymus
39	chr3:111823200-111828000	Weak transcription	Gastric	stomach
40	chr3:111823400-111837800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr3:111823800-111828000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr3:111824800-111829600	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr3:111825200-111827200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr3:111825400-111827400	Strong transcription	Rectal Mucosa Donor 31	rectum
45	chr3:111825600-111826800	Strong transcription	HUES48 Cell Line	embryonic stem cell
46	chr3:111825600-111833600	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr3:111825600-111838600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr3:111825800-111826600	Weak transcription	Fetal Thymus	thymus
49	chr3:111825800-111828000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr3:111825800-111828000	Weak transcription	NH-A	brain

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