Variant report

Variant	rs6957783
Chromosome Location	chr7:6459165-6459166
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF12	chr7:6458726-6459462	ECC-1	luminal epithelium:	n/a	n/a
2	POLR2A	chr7:6459064-6459409	A549	lung:	n/a	n/a
3	POLR2A	chr7:6458886-6459610	PANC-1	pancreas:	n/a	n/a
4	POLR2A	chr7:6458750-6459520	SK-N-MC	brain:	n/a	n/a
5	MAX	chr7:6458865-6459412	ECC-1	luminal epithelium:	n/a	n/a
6	REST	chr7:6458897-6459454	ECC-1	luminal epithelium:	n/a	chr7:6459158-6459165 chr7:6459151-6459160 chr7:6459145-6459165
7	TEAD4	chr7:6458881-6459410	ECC-1	luminal epithelium:	n/a	n/a
8	RAD21	chr7:6458822-6459383	ECC-1	luminal epithelium:	n/a	n/a
9	EP300	chr7:6458847-6459436	ECC-1	luminal epithelium:	n/a	chr7:6459412-6459426
10	POLR2A	chr7:6459093-6459173	Hela-S3	cervix:	n/a	n/a
11	MAX	chr7:6458831-6459399	ECC-1	luminal epithelium:	n/a	n/a
12	NFIC	chr7:6458805-6459531	ECC-1	luminal epithelium:	n/a	n/a
13	TEAD4	chr7:6458867-6459370	ECC-1	luminal epithelium:	n/a	n/a
14	POLR2A	chr7:6458852-6459416	HL-60	blood:	n/a	n/a
15	USF1	chr7:6458875-6459272	ECC-1	luminal epithelium:	n/a	n/a
16	POLR2A	chr7:6459043-6459278	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr7:6459158-6459200	HepG2	liver:	n/a	n/a
18	REST	chr7:6458872-6459401	ECC-1	luminal epithelium:	n/a	chr7:6459158-6459165 chr7:6459151-6459160 chr7:6459145-6459165
19	NFIC	chr7:6458733-6459627	ECC-1	luminal epithelium:	n/a	n/a
20	TCF12	chr7:6458672-6459436	ECC-1	luminal epithelium:	n/a	n/a
21	REST	chr7:6459046-6459270	PANC-1	pancreas:	n/a	chr7:6459158-6459165 chr7:6459151-6459160 chr7:6459145-6459165

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:6459143..6461711-chr7:6462987..6466871,3	K562	blood:

Variant related genes	Relation type
DAGLB	TF binding region

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12055988	1.00[AMR][1000 genomes]
rs12056244	1.00[AMR][1000 genomes]
rs34349887	1.00[AMR][1000 genomes]
rs6957147	1.00[AMR][1000 genomes]
rs73060723	1.00[AMR][1000 genomes]
rs73060724	1.00[AMR][1000 genomes]
rs73060726	1.00[AMR][1000 genomes]
rs73060727	1.00[AMR][1000 genomes]
rs73060728	1.00[AMR][1000 genomes]
rs73060729	1.00[AMR][1000 genomes]
rs73060730	1.00[AMR][1000 genomes]
rs73060732	1.00[AMR][1000 genomes]
rs73060735	1.00[AMR][1000 genomes]
rs73060741	1.00[AMR][1000 genomes]
rs73676739	1.00[AMR][1000 genomes]
rs7777861	1.00[AMR][1000 genomes]
rs7799698	0.94[AFR][1000 genomes]
rs7800977	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948912	chr7:5803903-6623553	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
2	nsv1034060	chr7:5814823-6745710	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
3	nsv538711	chr7:5814823-6745710	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
4	nsv1028242	chr7:5819084-6645024	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
5	nsv538712	chr7:5819084-6645024	Weak transcription Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
6	nsv949531	chr7:5949371-6753694	Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
7	nsv1020236	chr7:6248930-6690377	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
8	nsv497874	chr7:6296768-6614902	Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
9	nsv605999	chr7:6396719-6472881	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
10	esv1824738	chr7:6431933-6554222	Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
11	esv1825865	chr7:6431933-6554222	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
12	nsv606000	chr7:6446027-6477002	Weak transcription Enhancers Strong 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	4 gene(s)	inside rSNPs	diseases
13	nsv887428	chr7:6449496-6463905	Genic enhancers Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6426000-6475600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr7:6437600-6470400	Strong transcription	Fetal Brain Female	brain
3	chr7:6438000-6462400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr7:6438600-6475600	Strong transcription	HUES48 Cell Line	embryonic stem cell
5	chr7:6438800-6462800	Strong transcription	Primary T helper cells fromperipheralblood	blood
6	chr7:6439600-6472400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr7:6439800-6474600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr7:6439800-6474600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr7:6439800-6477400	Strong transcription	Fetal Intestine Small	intestine
10	chr7:6440200-6461400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr7:6440200-6464600	Weak transcription	Right Atrium	heart
12	chr7:6440400-6459400	Strong transcription	Hela-S3	cervix
13	chr7:6440800-6460600	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr7:6441200-6471400	Strong transcription	Brain Germinal Matrix	brain
15	chr7:6443800-6465200	Weak transcription	Fetal Heart	heart
16	chr7:6443800-6475000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr7:6444000-6474600	Strong transcription	Lung	lung
18	chr7:6448600-6470000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr7:6450400-6460600	Weak transcription	Fetal Brain Male	brain
20	chr7:6450400-6475000	Strong transcription	Fetal Stomach	stomach
21	chr7:6452600-6461400	Weak transcription	K562	blood
22	chr7:6452800-6475000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr7:6453000-6463600	Weak transcription	GM12878-XiMat	blood
24	chr7:6453000-6486800	Weak transcription	Small Intestine	intestine
25	chr7:6453600-6483200	Weak transcription	Fetal Kidney	kidney
26	chr7:6454600-6463600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr7:6456600-6460200	Weak transcription	HUVEC	blood vessel
28	chr7:6456600-6464400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr7:6456600-6475200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr7:6456800-6460000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr7:6456800-6460200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr7:6456800-6460200	Weak transcription	Brain Angular Gyrus	brain
33	chr7:6456800-6460200	Weak transcription	NHDF-Ad	bronchial
34	chr7:6456800-6460400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr7:6456800-6460400	Weak transcription	Aorta	Aorta
36	chr7:6456800-6461200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr7:6456800-6461200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr7:6456800-6464000	Weak transcription	Stomach Mucosa	stomach
39	chr7:6456800-6486800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr7:6457000-6459200	Weak transcription	Psoas Muscle	Psoas
41	chr7:6457000-6460200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr7:6457000-6460200	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr7:6457000-6460200	Weak transcription	HMEC	breast
44	chr7:6457000-6464000	Weak transcription	Colon Smooth Muscle	Colon
45	chr7:6457200-6460000	Weak transcription	NH-A	brain
46	chr7:6457200-6460200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr7:6457200-6460200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr7:6457200-6460200	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr7:6457200-6460200	Weak transcription	Esophagus	oesophagus
50	chr7:6457200-6460200	Weak transcription	Fetal Lung	lung

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