Variant report

Variant	rs6731209
Chromosome Location	chr2:178257352-178257353
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:433)
CpG islands
(count:122)
Chromatin interactive
region (count:11)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:433 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SIN3AK20	chr2:178257107-178257547	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr2:178257052-178257782	GM12892	blood:	n/a	n/a
3	RCOR1	chr2:178257058-178257962	HepG2	liver:	n/a	n/a
4	CREB1	chr2:178257104-178257731	H1-hESC	embryonic stem cell:	n/a	n/a
5	ELF1	chr2:178257162-178257645	HepG2	liver:	n/a	chr2:178257447-178257459
6	ZKSCAN1	chr2:178257049-178257597	Hela-S3	cervix:	n/a	n/a
7	NR2F2	chr2:178257102-178257676	K562	blood:	n/a	chr2:178257465-178257480
8	CTCF	chr2:178257340-178257490	HCT-116	colon:	n/a	n/a
9	E2F4	chr2:178257181-178257947	K562	blood:	n/a	chr2:178257493-178257503
10	TAF1	chr2:178257122-178257912	K562	blood:	n/a	n/a
11	MYC	chr2:178257015-178257690	K562	blood:	n/a	n/a
12	HCFC1	chr2:178257149-178257984	K562	blood:	n/a	n/a
13	NFIC	chr2:178257110-178258017	ECC-1	luminal epithelium:	n/a	n/a
14	TEAD4	chr2:178256815-178257605	HepG2	liver:	n/a	n/a
15	RCOR1	chr2:178256716-178257994	K562	blood:	n/a	n/a
16	MBD4	chr2:178256722-178258314	HepG2	liver:	n/a	n/a
17	POLR2A	chr2:178257012-178257811	PANC-1	pancreas:	n/a	n/a
18	POLR2A	chr2:178257073-178257987	HepG2	liver:	n/a	n/a
19	ZEB1	chr2:178256584-178258106	HepG2	liver:	n/a	chr2:178256734-178256742 chr2:178256740-178256747
20	CREB1	chr2:178257077-178257758	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr2:178257240-178258055	IMR90	lung:	n/a	n/a
22	PAX5	chr2:178257115-178257894	GM12892	blood:	n/a	n/a
23	TCF12	chr2:178257175-178257544	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr2:178257002-178258035	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr2:178257049-178258013	K562	blood:	n/a	n/a
26	TBP	chr2:178257195-178257565	Hela-S3	cervix:	n/a	n/a
27	RELA	chr2:178257063-178257799	GM12891	blood:	n/a	n/a
28	POLR2A	chr2:178257038-178258000	GM12878	blood:	n/a	n/a
29	MAX	chr2:178256944-178258072	ECC-1	luminal epithelium:	n/a	n/a
30	MXI1	chr2:178256828-178258346	GM12878	blood:	n/a	n/a
31	POLR2A	chr2:178257141-178257633	H1-hESC	embryonic stem cell:	n/a	n/a
32	MYC	chr2:178256754-178258291	K562	blood:	n/a	chr2:178256755-178256766
33	GABPA	chr2:178257175-178257774	SK-N-SH	brain:	n/a	n/a
34	TCF12	chr2:178256807-178257892	A549	lung:	n/a	n/a
35	EP300	chr2:178257334-178257688	HepG2	liver:	n/a	n/a
36	POLR2A	chr2:178257108-178257937	U87	brain:	n/a	n/a
37	POLR2A	chr2:178257121-178257994	Hela-S3	cervix:	n/a	n/a
38	TAL1	chr2:178257318-178257641	K562	blood:	n/a	n/a
39	GATA2	chr2:178257102-178257877	SH-SY5Y	brain:	n/a	chr2:178257241-178257249 chr2:178257284-178257291
40	GABPA	chr2:178257285-178257688	HepG2	liver:	n/a	n/a
41	POLR2A	chr2:178257094-178257771	HCT-116	colon:	n/a	n/a
42	MAZ	chr2:178257018-178257714	GM12878	blood:	n/a	n/a
43	YY1	chr2:178257029-178257976	ECC-1	luminal epithelium:	n/a	n/a
44	GABPA	chr2:178257159-178257962	K562	blood:	n/a	n/a
45	NANOG	chr2:178257159-178257661	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr2:178257010-178257844	ECC-1	luminal epithelium:	n/a	n/a
47	POLR2A	chr2:178257110-178257944	HUVEC	blood vessel:	n/a	n/a
48	POLR2A	chr2:178257154-178257659	SK-N-MC	brain:	n/a	n/a
49	SETDB1	chr2:178257183-178257508	U2OS	brain:	n/a	n/a
50	YY1	chr2:178257160-178257690	HCT-116	colon:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:178257342-178257392	AG09319	gingival:	n/a
2	chr2:178257342-178257392	HIPEpiC	eye:	n/a
3	chr2:178257317-178257367	SK-N-SH_RA	brain:	n/a
4	chr2:178257342-178257392	HepG2	liver:	n/a
5	chr2:178257317-178257367	Hepatocyte	liver:	n/a
6	chr2:178257342-178257392	ovcar-3	ovarian:	n/a
7	chr2:178257317-178257367	HCT-116	colon:	n/a
8	chr2:178257342-178257392	Jurkat	blood:	n/a
9	chr2:178257342-178257392	NH-A	brain:	n/a
10	chr2:178257317-178257367	GM12891	blood:	n/a
11	chr2:178257317-178257367	PrEC	prostate:	n/a
12	chr2:178257342-178257392	HMEC	breast:	n/a
13	chr2:178257317-178257367	AG04449	skin:	fetal
14	chr2:178257317-178257367	PFSK-1	brain:	n/a
15	chr2:178257342-178257392	Hepatocyte	liver:	n/a
16	chr2:178257317-178257367	Caco-2	colon:	n/a
17	chr2:178257342-178257392	PrEC	prostate:	n/a
18	chr2:178257342-178257392	PFSK-1	brain:	n/a
19	chr2:178257317-178257367	HRCEpiC	kidney:	n/a
20	chr2:178257342-178257392	GM12891	blood:	n/a
21	chr2:178257317-178257367	HPAEpiC	pulmonary alveolar:	n/a
22	chr2:178257317-178257367	GM12892	blood:	n/a
23	chr2:178257317-178257367	BE2_C	brain:	n/a
24	chr2:178257317-178257367	SK-N-SH	brain:	n/a
25	chr2:178257342-178257392	NHBE	bronchial:	n/a
26	chr2:178257317-178257367	CMK	blood:	n/a
27	chr2:178257317-178257367	IMR90	lung:	fetal
28	chr2:178257342-178257392	PANC-1	pancreas:	n/a
29	chr2:178257317-178257367	ECC-1	luminal epithelium:	n/a
30	chr2:178257342-178257392	HEEpiC	esophagus:	n/a
31	chr2:178257317-178257367	SKMC	muscle:	n/a
32	chr2:178257342-178257392	BJ	skin:	n/a
33	chr2:178257342-178257392	HCM	heart:	n/a
34	chr2:178257342-178257392	SK-N-MC	brain:	n/a
35	chr2:178257342-178257392	Caco-2	colon:	n/a
36	chr2:178257317-178257367	A549	lung:	n/a
37	chr2:178257342-178257392	AoSMC	blood vessel:	n/a
38	chr2:178257317-178257367	AG09309	skin:	n/a
39	chr2:178257342-178257392	GM12892	blood:	n/a
40	chr2:178257317-178257367	HEEpiC	esophagus:	n/a
41	chr2:178257317-178257367	ProgFib	skin:	n/a
42	chr2:178257342-178257392	IMR90	lung:	fetal
43	chr2:178257342-178257392	HUVEC	blood vessel:	n/a
44	chr2:178257342-178257392	MCF-7	breast:	n/a
45	chr2:178257317-178257367	SAEC	small airway:	n/a
46	chr2:178257317-178257367	GM19239	blood:	n/a
47	chr2:178257317-178257367	HAEpiC	amniotic membrane:	n/a
48	chr2:178257317-178257367	SK-N-MC	brain:	n/a
49	chr2:178257317-178257367	HCF	heart:	n/a
50	chr2:178257342-178257392	LNCaP	prostate:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr2:178256384..178259130-chr2:178415368..178419750,5	K562	blood:
2	chr2:178093079..178095559-chr2:178255837..178257857,2	MCF-7	breast:
3	chr2:178125970..178131401-chr2:178255081..178263132,15	K562	blood:
4	chr2:178208196..178211847-chr2:178255899..178258427,3	K562	blood:
5	chr2:178257289..178257860-chr9:19375202..19375984,2	NB4	blood:
6	chr2:178207678..178210773-chr2:178255899..178258732,5	K562	blood:
7	chr16:777202..777796-chr2:178257297..178258024,2	NB4	blood:
8	chr2:178077054..178078928-chr2:178255788..178258583,2	K562	blood:
9	chr2:178128089..178131376-chr2:178255205..178259020,7	K562	blood:
10	chr2:178255830..178259425-chr2:178483453..178485926,4	K562	blood:
11	chr2:178256384..178258999-chr2:178416044..178418294,3	K562	blood:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TTC30B-1	chr2:178257301-178257409	ENSG00000213963.2
2	lnc-TTC30B-1	chr2:178257301-178257419	ENSG00000213963.2
3	lnc-TTC30B-1	chr2:178257301-178257415	ENSG00000213963.2
4	lnc-TTC30B-1	chr2:178257301-178257419	NONHSAT075710
5	lnc-TTC30B-1	chr2:178257301-178257420	NONHSAT075721

No data

Variant related genes	Relation type
AGPS	TF binding region
AGPS	CpG island
ENSG00000238295	Chromatin interaction
ENSG00000229337	Chromatin interaction
ENSG00000225808	Chromatin interaction
ENSG00000222043	Chromatin interaction
ENSG00000103253	Chromatin interaction
ENSG00000273226	Chromatin interaction
ENSG00000116044	Chromatin interaction
ENSG00000237178	Chromatin interaction
ENSG00000197557	Chromatin interaction
ENSG00000263721	Chromatin interaction
ENSG00000170144	Chromatin interaction
ENSG00000196659	Chromatin interaction

rs_ID	r²[population]
rs6726942	1.00[AFR][1000 genomes]
rs73025650	1.00[AFR][1000 genomes]
rs73025657	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73025664	1.00[AFR][1000 genomes]
rs73025688	1.00[AFR][1000 genomes]
rs73025689	1.00[AFR][1000 genomes]
rs73029113	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73029114	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73029117	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73031241	0.86[AFR][1000 genomes]
rs73031244	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73031280	0.86[AFR][1000 genomes]
rs7573086	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178256200-178257400	Flanking Active TSS	Dnd41	blood
2	chr2:178256400-178257400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr2:178256400-178257400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
4	chr2:178256400-178257400	Flanking Active TSS	HepG2	liver
5	chr2:178256600-178257400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:178256600-178257400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
7	chr2:178256600-178257400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
8	chr2:178256600-178257400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
9	chr2:178256600-178257400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr2:178256600-178257400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
11	chr2:178256600-178257400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
12	chr2:178256600-178257400	Flanking Active TSS	Stomach Smooth Muscle	stomach
13	chr2:178256600-178257400	Flanking Active TSS	HMEC	breast
14	chr2:178256600-178257400	Flanking Active TSS	HUVEC	blood vessel
15	chr2:178256600-178258000	Active TSS	Rectal Mucosa Donor 29	rectum
16	chr2:178256600-178258600	Active TSS	HUES64 Cell Line	embryonic stem cell
17	chr2:178256600-178258600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr2:178256600-178258600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr2:178256600-178258800	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr2:178256600-178259000	Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr2:178256600-178259200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
22	chr2:178256600-178259800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr2:178256600-178260200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr2:178256800-178257400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
25	chr2:178256800-178257400	Flanking Active TSS	Primary B cells from cord blood	blood
26	chr2:178256800-178257400	Flanking Active TSS	Primary B cells from peripheral blood	blood
27	chr2:178256800-178257400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
28	chr2:178256800-178257400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
29	chr2:178256800-178257400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
30	chr2:178256800-178257400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
31	chr2:178256800-178257400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
32	chr2:178256800-178257400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
33	chr2:178256800-178257400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr2:178256800-178257400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr2:178256800-178257400	Flanking Active TSS	Placenta	Placenta
36	chr2:178256800-178257400	Flanking Active TSS	Thymus	Thymus
37	chr2:178256800-178257400	Flanking Active TSS	NH-A	brain
38	chr2:178256800-178257400	Flanking Active TSS	NHEK	skin
39	chr2:178256800-178258200	Active TSS	iPS-15b Cell Line	embryonic stem cell
40	chr2:178256800-178258200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr2:178256800-178258400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr2:178256800-178258600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
43	chr2:178256800-178258600	Active TSS	H9 Cell Line	embryonic stem cell
44	chr2:178256800-178258600	Active TSS	HUES48 Cell Line	embryonic stem cell
45	chr2:178256800-178258600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr2:178256800-178258600	Active TSS	Brain Germinal Matrix	brain
47	chr2:178256800-178258600	Active TSS	Right Atrium	heart
48	chr2:178256800-178258600	Active TSS	NHLF	lung
49	chr2:178256800-178258800	Active TSS	H1 Cell Line	embryonic stem cell
50	chr2:178256800-178258800	Active TSS	Psoas Muscle	Psoas

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