Variant report

Variant	rs9991702
Chromosome Location	chr4:129796506-129796507
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:129792576..129794412-chr4:129795148..129798091,2	MCF-7	breast:

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10006958	0.88[AFR][1000 genomes]
rs10008441	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10014385	1.00[AMR][1000 genomes]
rs10015538	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10026447	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10028545	1.00[AMR][1000 genomes]
rs28430630	0.88[AFR][1000 genomes]
rs28434631	0.83[AFR][1000 genomes]
rs28583676	0.88[AFR][1000 genomes]
rs28707598	0.88[AFR][1000 genomes]
rs28823671	1.00[AMR][1000 genomes]
rs9307610	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9994585	0.91[AFR][1000 genomes]
rs9996611	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869258	chr4:129191619-130138148	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
2	nsv517249	chr4:129738328-129927804	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv1026938	chr4:129770961-129936205	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv1030513	chr4:129770961-129965026	Strong transcription Genic enhancers Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv870175	chr4:129771718-129937945	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv1026772	chr4:129773881-129936205	ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
7	nsv461637	chr4:129774375-129924977	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
8	nsv595397	chr4:129774375-129924977	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
9	nsv461638	chr4:129774375-129927804	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
10	nsv595398	chr4:129774375-129927804	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
11	nsv1018994	chr4:129775612-129933968	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
12	nsv4504	chr4:129777368-129803959	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
13	nsv1034996	chr4:129777825-129905255	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
14	nsv537249	chr4:129777825-129905255	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
15	nsv1022446	chr4:129778025-129905116	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
16	nsv537250	chr4:129778025-129905116	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
17	nsv1030296	chr4:129778025-129920680	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
18	nsv537251	chr4:129778025-129920680	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
19	esv2830419	chr4:129785483-129905256	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
20	nsv533785	chr4:129785683-129857992	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9991702	C4orf33	cis	lymphoblastoid	seeQTL

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129753600-129798600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:129779600-129809800	Weak transcription	Small Intestine	intestine
3	chr4:129783400-129800600	Weak transcription	Fetal Kidney	kidney
4	chr4:129784400-129799200	Weak transcription	Fetal Brain Male	brain
5	chr4:129784600-129798400	Strong transcription	Fetal Thymus	thymus
6	chr4:129784800-129796800	Strong transcription	Primary T cells fromperipheralblood	blood
7	chr4:129784800-129798400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr4:129785000-129797200	Weak transcription	NHEK	skin
9	chr4:129785000-129798600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr4:129786000-129796800	Strong transcription	Liver	Liver
11	chr4:129789000-129797000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr4:129789400-129811200	Weak transcription	Placenta	Placenta
13	chr4:129790200-129796800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr4:129790200-129798400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr4:129790200-129798600	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr4:129790600-129798000	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr4:129792400-129797200	Weak transcription	Hela-S3	cervix
18	chr4:129793200-129797200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr4:129793200-129797800	Strong transcription	A549	lung
20	chr4:129793200-129798000	Strong transcription	NHDF-Ad	bronchial
21	chr4:129793200-129812200	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr4:129793400-129801200	Weak transcription	Brain Hippocampus Middle	brain
23	chr4:129793400-129804200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr4:129793600-129804200	Weak transcription	NHLF	lung
25	chr4:129793600-129812000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr4:129793600-129812200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr4:129793600-129812800	Weak transcription	Spleen	Spleen
28	chr4:129793600-129815400	Weak transcription	Fetal Lung	lung
29	chr4:129793600-129816800	Weak transcription	Lung	lung
30	chr4:129793600-129817200	Weak transcription	Psoas Muscle	Psoas
31	chr4:129793600-129825000	Weak transcription	Ovary	ovary
32	chr4:129793800-129801200	Weak transcription	Fetal Intestine Small	intestine
33	chr4:129793800-129811600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr4:129793800-129907200	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr4:129794000-129798800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr4:129794000-129800800	Weak transcription	K562	blood
37	chr4:129794000-129806200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr4:129794000-129809200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr4:129794000-129813400	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr4:129794000-129814800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr4:129794200-129798000	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr4:129794200-129798200	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr4:129794200-129799400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr4:129794200-129803400	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr4:129794200-129810800	Weak transcription	Fetal Brain Female	brain
46	chr4:129794200-129810800	Weak transcription	Right Ventricle	heart
47	chr4:129794200-129812000	Weak transcription	Stomach Smooth Muscle	stomach
48	chr4:129794200-129815000	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr4:129794200-129816800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr4:129794200-129824800	Weak transcription	Osteobl	bone

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