Variant report

Variant	rs7633168
Chromosome Location	chr3:155609343-155609344
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA1	chr3:155607537-155609491	K562	blood:	n/a	n/a
2	GATA1	chr3:155607791-155609956	PBDE	blood:	n/a	chr3:155609825-155609835 chr3:155609826-155609835

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:155608769..155610582-chr3:155616040..155618696,2	K562	blood:
2	chr3:155570082..155571972-chr3:155607319..155610205,2	K562	blood:
3	chr3:155587263..155590134-chr3:155606733..155610568,6	K562	blood:
4	chr3:155607463..155609800-chr3:155617244..155619879,2	MCF-7	breast:
5	chr3:155608599..155610406-chr3:155619880..155621554,2	K562	blood:
6	chr3:155607817..155611466-chr3:155647833..155650559,3	K562	blood:
7	chr3:155570082..155572220-chr3:155607319..155610126,2	K562	blood:
8	chr3:155607223..155610791-chr3:155611343..155615286,5	K562	blood:
9	chr3:155608624..155610352-chr3:155653866..155656190,2	K562	blood:

No data

Variant related genes	Relation type
GMPS	TF binding region
ENSG00000163655	Chromatin interaction
ENSG00000169359	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10804773	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10804774	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10936020	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1131925	0.91[CHB][hapmap];0.89[CHD][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs11706359	0.92[CEU][hapmap]
rs11714133	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13059611	0.89[ASN][1000 genomes]
rs13091683	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13096499	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2054878	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2063903	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2200707	0.81[CEU][hapmap];0.89[CHD][hapmap];0.85[JPT][hapmap];0.88[MEX][hapmap];0.80[MKK][hapmap];0.82[TSI][hapmap]
rs34337666	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35321137	0.94[ASN][1000 genomes]
rs35472369	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs358703	0.87[ASW][hapmap];0.82[CEU][hapmap];0.87[LWK][hapmap];0.91[MEX][hapmap];0.82[AMR][1000 genomes]
rs3772115	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3772116	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3821365	0.98[ASN][1000 genomes]
rs4680219	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4680223	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55662848	0.81[EUR][1000 genomes]
rs6441028	1.00[CHB][hapmap];0.95[CHD][hapmap];0.86[JPT][hapmap];0.98[ASN][1000 genomes]
rs66509404	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6763830	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6799267	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs6804740	0.81[CEU][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap]
rs6809229	0.87[ASW][hapmap];0.96[CEU][hapmap];0.86[JPT][hapmap];0.94[LWK][hapmap];0.88[MEX][hapmap];0.89[MKK][hapmap];0.83[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs7619976	0.98[ASN][1000 genomes]
rs7629523	0.80[CEU][hapmap];0.86[CHB][hapmap];1.00[YRI][hapmap]
rs7643630	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7651038	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7652005	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877680	chr3:155438022-155723064	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	esv2753744	chr3:155487298-155707298	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers 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 target site	31 gene(s)	inside rSNPs	diseases
3	nsv877681	chr3:155535670-155654017	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7633168	SLC33A1	cis	cerebellum	SCAN
rs7633168	SLC33A1	cis	parietal	SCAN
rs7633168	RARRES1	cis	cerebellum	SCAN

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:155590200-155643000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr3:155590200-155667400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr3:155591000-155611200	Weak transcription	Fetal Muscle Leg	muscle
4	chr3:155591000-155611800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr3:155591200-155612600	Weak transcription	Primary B cells from cord blood	blood
6	chr3:155591400-155611200	Weak transcription	Fetal Thymus	thymus
7	chr3:155591400-155616200	Weak transcription	NHEK	skin
8	chr3:155592000-155611800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr3:155594200-155622000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr3:155596800-155611200	Weak transcription	Thymus	Thymus
11	chr3:155598600-155630000	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr3:155599400-155616400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr3:155599800-155611400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr3:155599800-155633400	Weak transcription	Right Ventricle	heart
15	chr3:155600000-155611200	Weak transcription	Primary B cells from peripheral blood	blood
16	chr3:155600000-155612000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr3:155600400-155615400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr3:155600400-155617200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr3:155603200-155611000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr3:155603800-155657800	Weak transcription	Esophagus	oesophagus
21	chr3:155604400-155658600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr3:155604800-155609400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr3:155605000-155632600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr3:155606400-155610800	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr3:155606800-155612000	Weak transcription	Fetal Muscle Trunk	muscle
26	chr3:155607000-155609800	Enhancers	Ovary	ovary
27	chr3:155607000-155633400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr3:155607200-155610600	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr3:155607200-155611000	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr3:155607200-155611000	Weak transcription	Placenta	Placenta
31	chr3:155607200-155611400	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr3:155607200-155611600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr3:155607200-155612600	Weak transcription	Stomach Smooth Muscle	stomach
34	chr3:155607200-155656800	Weak transcription	Small Intestine	intestine
35	chr3:155607400-155610800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr3:155607400-155610800	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr3:155607400-155611200	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr3:155607400-155611200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr3:155607400-155611200	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr3:155607400-155611200	Weak transcription	Primary T cells from cord blood	blood
41	chr3:155607400-155611200	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr3:155607400-155611400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr3:155607400-155611400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr3:155607400-155611800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr3:155607400-155611800	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr3:155607400-155611800	Weak transcription	Left Ventricle	heart
47	chr3:155607400-155612200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr3:155607400-155615400	Weak transcription	Brain Anterior Caudate	brain
49	chr3:155607400-155625800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr3:155607400-155630600	Weak transcription	Lung	lung

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