Variant report

Variant	rs4916497
Chromosome Location	chr3:196198533-196198534
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:196198285-196198998	K562	blood:	n/a	n/a
2	POLR2A	chr3:196198345-196199009	GM12878	blood:	n/a	n/a
3	GATA3	chr3:196198292-196198964	SK-N-SH	brain:	n/a	n/a
4	POLR2A	chr3:196198350-196198755	GM12891	blood:	n/a	n/a
5	POLR2A	chr3:196198445-196198717	GM12891	blood:	n/a	n/a
6	GATA3	chr3:196198395-196198956	SK-N-SH	brain:	n/a	n/a
7	POLR2A	chr3:196198480-196198577	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr3:196198412-196199054	K562	blood:	n/a	n/a
9	POLR2A	chr3:196198357-196199008	GM12878	blood:	n/a	n/a
10	POLR2A	chr3:196198167-196199642	GM12878	blood:	n/a	n/a
11	MXI1	chr3:196198384-196199089	IMR90	lung:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr3:196192779..196196308-chr3:196197005..196200589,3	K562	blood:
2	chr3:196194808..196197230-chr3:196197915..196199968,2	K562	blood:
3	chr3:196197868..196200797-chr3:196203999..196206906,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000273013	TF binding region

Extended variants
information (count: 45 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11185543	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11707744	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11718980	0.88[ASN][1000 genomes]
rs11719920	0.90[ASN][1000 genomes]
rs12632592	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12635457	0.94[ASN][1000 genomes]
rs13084212	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs13094241	0.81[EUR][1000 genomes]
rs13098146	0.90[ASN][1000 genomes]
rs34196595	0.91[ASN][1000 genomes]
rs3796129	0.81[CHB][hapmap];0.90[ASN][1000 genomes]
rs4244200	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4393941	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4916431	0.90[ASN][1000 genomes]
rs4916498	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4916499	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs5016648	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55997345	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6772271	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6775484	0.90[ASN][1000 genomes]
rs6803161	0.94[ASN][1000 genomes]
rs71630192	0.88[ASN][1000 genomes]
rs7433483	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7611980	0.88[ASN][1000 genomes]
rs7612450	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7643192	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7646174	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7646273	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7647487	0.90[ASN][1000 genomes]
rs7648887	0.82[CEU][hapmap]
rs9843876	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9856006	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9864836	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9872866	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997797	chr3:195658360-196212958	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv1003194	chr3:195960270-196342423	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	nsv536894	chr3:195960270-196342423	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
4	nsv878182	chr3:195974181-196228360	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
5	nsv469831	chr3:196071603-196235225	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv482542	chr3:196071603-196235225	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS 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	28 gene(s)	inside rSNPs	diseases
7	nsv1003066	chr3:196098763-196414159	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers 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 target site	55 gene(s)	inside rSNPs	diseases
8	esv2752687	chr3:196147690-196286690	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
9	nsv948681	chr3:196148055-197007546	Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
10	nsv878185	chr3:196158773-196199204	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
11	nsv878186	chr3:196158773-196219794	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4916497	UBXD7	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:196171400-196198600	Weak transcription	Ovary	ovary
2	chr3:196173000-196198600	Weak transcription	Colon Smooth Muscle	Colon
3	chr3:196177800-196198600	Weak transcription	Small Intestine	intestine
4	chr3:196178200-196198600	Weak transcription	Psoas Muscle	Psoas
5	chr3:196182200-196213600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr3:196185200-196198600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr3:196191800-196216800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr3:196193200-196198600	Weak transcription	HMEC	breast
9	chr3:196193400-196198800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr3:196193400-196200200	Weak transcription	Fetal Kidney	kidney
11	chr3:196193400-196209400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr3:196193600-196214600	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr3:196194200-196202200	Strong transcription	HUVEC	blood vessel
14	chr3:196194200-196215000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr3:196194200-196217400	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr3:196194400-196211200	Strong transcription	Cortex derived primary cultured neurospheres	brain
17	chr3:196194400-196216600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr3:196194600-196214600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr3:196194600-196214800	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr3:196194600-196215800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr3:196194800-196215000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr3:196195000-196214800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr3:196195200-196202400	Strong transcription	Hela-S3	cervix
24	chr3:196195200-196215200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr3:196195400-196214800	Strong transcription	Liver	Liver
26	chr3:196195400-196215600	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr3:196195600-196202400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
28	chr3:196195600-196214400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr3:196195600-196215000	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr3:196195800-196214800	Strong transcription	Dnd41	blood
31	chr3:196196000-196205400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr3:196196200-196201600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr3:196196600-196202400	Strong transcription	K562	blood
34	chr3:196196800-196198600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr3:196196800-196198600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr3:196196800-196199400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr3:196196800-196200200	Weak transcription	Fetal Brain Male	brain
38	chr3:196196800-196202200	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr3:196196800-196207200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr3:196196800-196208000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr3:196196800-196214600	Strong transcription	Fetal Stomach	stomach
42	chr3:196196800-196214800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr3:196196800-196217000	Strong transcription	Fetal Intestine Small	intestine
44	chr3:196197000-196216800	Strong transcription	GM12878-XiMat	blood
45	chr3:196197000-196220000	Weak transcription	Stomach Mucosa	stomach
46	chr3:196197200-196214800	Strong transcription	Primary T cells fromperipheralblood	blood
47	chr3:196197200-196223800	Strong transcription	Fetal Thymus	thymus
48	chr3:196197400-196201200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr3:196197400-196201200	Strong transcription	Colonic Mucosa	Colon
50	chr3:196197400-196201800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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