Variant report

Variant	rs34757247
Chromosome Location	chr7:128293881-128293882
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:25)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:25 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOSL2	chr7:128293160-128294053	HepG2	liver:	n/a	chr7:128294013-128294022
2	POLR2A	chr7:128293532-128293947	H1-hESC	embryonic stem cell:	n/a	n/a
3	NR2F2	chr7:128293255-128293948	K562	blood:	n/a	n/a
4	ZBTB33	chr7:128293653-128294052	K562	blood:	n/a	n/a
5	POLR2A	chr7:128293346-128294143	GM12878	blood:	n/a	n/a
6	POU2F2	chr7:128293571-128294016	GM12878	blood:	n/a	n/a
7	FOSL2	chr7:128293364-128293949	HepG2	liver:	n/a	n/a
8	JUND	chr7:128293273-128293977	HepG2	liver:	n/a	n/a
9	HEY1	chr7:128293176-128294007	K562	blood:	n/a	n/a
10	ZBTB33	chr7:128293618-128293992	HepG2	liver:	n/a	n/a
11	USF1	chr7:128293727-128293919	HepG2	liver:	n/a	n/a
12	ZBTB33	chr7:128293345-128294095	K562	blood:	n/a	n/a
13	POLR2A	chr7:128293666-128293993	HepG2	liver:	n/a	n/a
14	JUND	chr7:128293732-128293909	HepG2	liver:	n/a	n/a
15	SP1	chr7:128293289-128293927	HepG2	liver:	n/a	n/a
16	HEY1	chr7:128293177-128294000	HepG2	liver:	n/a	n/a
17	SPI1	chr7:128293719-128293933	K562	blood:	n/a	n/a
18	SIN3AK20	chr7:128293737-128293969	HepG2	liver:	n/a	n/a
19	RXRA	chr7:128293301-128293905	HepG2	liver:	n/a	n/a
20	SPI1	chr7:128293690-128293888	K562	blood:	n/a	n/a
21	HEY1	chr7:128293172-128294048	K562	blood:	n/a	n/a
22	POLR2A	chr7:128293607-128294261	GM12878	blood:	n/a	n/a
23	TCF3	chr7:128293682-128293931	GM12878	blood:	n/a	n/a
24	POLR2A	chr7:128293614-128293908	HepG2	liver:	n/a	n/a
25	HEY1	chr7:128293707-128293983	HepG2	liver:	n/a	n/a

No data

Variant related genes	Relation type
ENSG00000243679	TF binding region

Extended variants
information (count: 51 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10085435	0.86[AFR][1000 genomes]
rs10227608	0.81[AFR][1000 genomes]
rs10233059	0.89[AFR][1000 genomes]
rs10250369	0.81[AFR][1000 genomes]
rs10253131	0.87[AFR][1000 genomes]
rs10261037	0.82[AFR][1000 genomes]
rs10269844	0.83[AFR][1000 genomes]
rs10270431	0.89[AFR][1000 genomes]
rs10954205	0.96[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs11768485	0.91[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs12536288	0.84[ASN][1000 genomes]
rs12537208	0.85[AFR][1000 genomes]
rs12706858	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13237593	0.82[AFR][1000 genomes]
rs28496126	0.85[AFR][1000 genomes]
rs28521260	0.81[AFR][1000 genomes]
rs34490491	0.87[AFR][1000 genomes]
rs34751214	0.88[AFR][1000 genomes]
rs34942906	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs34960471	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35603038	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35661748	0.95[ASN][1000 genomes]
rs35871589	0.84[AFR][1000 genomes]
rs3816421	0.95[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs4289745	0.84[ASN][1000 genomes]
rs55953818	0.85[AFR][1000 genomes]
rs60029447	0.81[AFR][1000 genomes]
rs6467184	0.83[AFR][1000 genomes]
rs6467201	0.85[AFR][1000 genomes]
rs6943737	0.81[AFR][1000 genomes]
rs6958343	0.83[AFR][1000 genomes]
rs6960296	0.84[ASN][1000 genomes]
rs6969343	0.80[AFR][1000 genomes]
rs6971819	0.84[ASN][1000 genomes]
rs71546785	0.83[AFR][1000 genomes]
rs71546786	0.85[AFR][1000 genomes]
rs71546790	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7776915	0.89[AFR][1000 genomes]
rs7778169	0.91[AFR][1000 genomes]
rs7787764	0.84[ASN][1000 genomes]
rs7790478	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7798172	0.85[AFR][1000 genomes]
rs7811083	0.96[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs9690225	0.83[AFR][1000 genomes]
rs9690934	0.89[AFR][1000 genomes]
rs9692416	0.89[AFR][1000 genomes]
rs9769753	0.94[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427806	chr7:128179989-128428182	ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv970938	chr7:128256300-128300276	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv981680	chr7:128288269-128298277	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats	TF binding region CpG island lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv993870	chr7:128292907-128295065	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	TF binding region CpG island	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs34757247	RP11-274B21.10	cis	Esophagus Muscularis	GTEx
rs34757247	CICP14	cis	Muscle Skeletal	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128239200-128296400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:128249600-128295200	Weak transcription	NH-A	brain
3	chr7:128249600-128297600	Weak transcription	HUVEC	blood vessel
4	chr7:128249600-128308400	Weak transcription	HSMM	muscle
5	chr7:128249600-128312200	Weak transcription	Psoas Muscle	Psoas
6	chr7:128249600-128319600	Weak transcription	NHLF	lung
7	chr7:128260000-128296400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr7:128260400-128300600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr7:128272200-128300000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:128274200-128296400	Weak transcription	Colonic Mucosa	Colon
11	chr7:128275600-128295000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr7:128279600-128296200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr7:128279800-128296400	Weak transcription	Brain Angular Gyrus	brain
14	chr7:128279800-128300000	Weak transcription	Dnd41	blood
15	chr7:128279800-128301400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr7:128282400-128295400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr7:128282400-128301400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr7:128282400-128312400	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr7:128282600-128300000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr7:128284000-128304800	Weak transcription	Primary T cells from cord blood	blood
21	chr7:128284200-128294600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr7:128284200-128301400	Weak transcription	Fetal Lung	lung
23	chr7:128284200-128313200	Weak transcription	Brain Cingulate Gyrus	brain
24	chr7:128284400-128294400	Weak transcription	Small Intestine	intestine
25	chr7:128284400-128299200	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr7:128284400-128313200	Weak transcription	Colon Smooth Muscle	Colon
27	chr7:128285800-128296000	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr7:128286400-128298400	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr7:128287400-128301400	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr7:128288400-128294400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr7:128288800-128296200	Strong transcription	Primary neutrophils fromperipheralblood	blood
32	chr7:128289000-128301400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr7:128290000-128295000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr7:128290000-128295000	Strong transcription	Liver	Liver
35	chr7:128290000-128295200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr7:128290600-128294200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr7:128290600-128294600	Strong transcription	Fetal Brain Female	brain
38	chr7:128290600-128295000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr7:128290600-128295000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr7:128290600-128295000	Strong transcription	Pancreas	Pancrea
41	chr7:128290600-128295400	Strong transcription	Fetal Intestine Small	intestine
42	chr7:128290600-128295800	Strong transcription	Fetal Stomach	stomach
43	chr7:128290800-128294800	Strong transcription	Thymus	Thymus
44	chr7:128290800-128295000	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr7:128290800-128295000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
46	chr7:128290800-128295000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr7:128290800-128295000	Strong transcription	Duodenum Mucosa	Duodenum
48	chr7:128291000-128294800	Strong transcription	Primary T cells fromperipheralblood	blood
49	chr7:128291000-128295000	Strong transcription	H1 Cell Line	embryonic stem cell
50	chr7:128291000-128295000	Strong transcription	Lung	lung

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