Variant report

Variant	rs12512715
Chromosome Location	chr4:129772286-129772287
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:129770901..129772590-chr4:129787099..129788677,2	K562	blood:
2	chr4:129730556..129734953-chr4:129772085..129776071,5	K562	blood:

Variant related genes	Relation type
ENSG00000077684	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10008927	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13120702	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13143771	0.82[ASN][1000 genomes]
rs1841259	0.82[ASN][1000 genomes]
rs1841260	0.84[ASN][1000 genomes]
rs2162126	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2217023	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs318500	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs318501	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs318502	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs318503	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs318513	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs318517	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs318521	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4975265	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4975267	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4975269	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4975274	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62317870	0.84[ASN][1000 genomes]
rs6817004	0.82[ASN][1000 genomes]
rs6834108	0.82[ASN][1000 genomes]
rs6847753	0.85[ASN][1000 genomes]
rs6857659	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7687562	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv1020801	chr4:129658178-129778086	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv537248	chr4:129658178-129778086	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	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

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs12512715	C4orf33	cis	Artery Tibial	GTEx
rs12512715	PHF17	Cis_1M	lymphoblastoid	RTeQTL
rs12512715	C4orf33	Cis_1M	lymphoblastoid	RTeQTL
rs12512715	C4orf33	cis	multi-tissue	Pritchard

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129753600-129798600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:129753800-129795000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr4:129760400-129783400	Strong transcription	HUES48 Cell Line	embryonic stem cell
4	chr4:129761600-129779400	Strong transcription	Fetal Stomach	stomach
5	chr4:129761600-129782000	Strong transcription	Fetal Intestine Small	intestine
6	chr4:129761600-129785000	Strong transcription	Thymus	Thymus
7	chr4:129761800-129775000	Strong transcription	GM12878-XiMat	blood
8	chr4:129762000-129782800	Strong transcription	Primary B cells from peripheral blood	blood
9	chr4:129762200-129773800	Strong transcription	Dnd41	blood
10	chr4:129762200-129775000	Strong transcription	Fetal Thymus	thymus
11	chr4:129762400-129775000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr4:129762400-129775000	Strong transcription	HSMM	muscle
13	chr4:129762400-129784200	Strong transcription	H9 Cell Line	embryonic stem cell
14	chr4:129762600-129775000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr4:129762600-129775400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr4:129762800-129784200	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr4:129763000-129774600	Strong transcription	Primary T cells from cord blood	blood
18	chr4:129763000-129783800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
19	chr4:129763000-129785800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr4:129763000-129787200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr4:129763200-129784000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
22	chr4:129763200-129784000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr4:129763400-129774800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr4:129763400-129784200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr4:129763600-129774600	Strong transcription	Primary T helper cells PMA-I stimulated	--
26	chr4:129763600-129774800	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr4:129763600-129774800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr4:129763600-129774800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr4:129763600-129777400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr4:129763600-129780400	Strong transcription	H1 Cell Line	embryonic stem cell
31	chr4:129763600-129786600	Strong transcription	Fetal Intestine Large	intestine
32	chr4:129763800-129774000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr4:129763800-129774400	Strong transcription	Primary T helper cells fromperipheralblood	blood
34	chr4:129763800-129775000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr4:129763800-129775200	Strong transcription	Primary hematopoietic stem cells	blood
36	chr4:129763800-129776400	Strong transcription	Hela-S3	cervix
37	chr4:129763800-129776600	Strong transcription	Fetal Muscle Trunk	muscle
38	chr4:129763800-129780400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr4:129763800-129780400	Strong transcription	Duodenum Mucosa	Duodenum
40	chr4:129763800-129783400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr4:129763800-129784000	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr4:129763800-129784200	Strong transcription	Brain Germinal Matrix	brain
43	chr4:129764000-129774800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr4:129764000-129775400	Strong transcription	HUVEC	blood vessel
45	chr4:129764000-129784000	Strong transcription	Fetal Brain Female	brain
46	chr4:129764200-129775000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
47	chr4:129764800-129779600	Strong transcription	Duodenum Smooth Muscle	Duodenum
48	chr4:129765000-129775200	Strong transcription	Spleen	Spleen
49	chr4:129765400-129775200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr4:129766400-129773600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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