Variant report

Variant	rs2172251
Chromosome Location	chr3:111697693-111697694
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:327)
CpG islands
(count:122)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:327 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr3:111697431-111698104	A549	lung:	n/a	n/a
2	NFYB	chr3:111697468-111697840	GM12878	blood:	n/a	n/a
3	POLR2A	chr3:111697233-111698157	MCF10A-Er-Src	breast:	n/a	n/a
4	ELK1	chr3:111697489-111698099	GM12878	blood:	n/a	n/a
5	POLR2A	chr3:111697429-111698165	HepG2	liver:	n/a	n/a
6	POLR2A	chr3:111697538-111698287	K562	blood:	n/a	n/a
7	POLR2A	chr3:111697435-111698514	GM12878	blood:	n/a	n/a
8	POLR2A	chr3:111697416-111698362	NB4	blood:	n/a	n/a
9	POLR2A	chr3:111697693-111698105	K562	blood:	n/a	n/a
10	ZNF143	chr3:111697503-111698164	Hela-S3	cervix:	n/a	n/a
11	PAX5	chr3:111697668-111698009	GM12878	blood:	n/a	n/a
12	POLR2A	chr3:111697415-111698737	GM12891	blood:	n/a	n/a
13	POLR2A	chr3:111697376-111698351	ECC-1	luminal epithelium:	n/a	n/a
14	MAX	chr3:111697374-111698397	ECC-1	luminal epithelium:	n/a	chr3:111697529-111697536
15	POLR2A	chr3:111697417-111698346	GM18526	blood:	n/a	n/a
16	MYC	chr3:111697515-111698687	K562	blood:	n/a	chr3:111697529-111697536
17	E2F6	chr3:111697340-111698321	H1-hESC	embryonic stem cell:	n/a	chr3:111697760-111697769 chr3:111698133-111698144 chr3:111697832-111697841 chr3:111698133-111698140 chr3:111698132-111698144
18	NRF1	chr3:111697567-111698022	Hela-S3	cervix:	n/a	chr3:111697833-111697842 chr3:111697831-111697840 chr3:111697759-111697768 chr3:111697756-111697770 chr3:111697831-111697845 chr3:111697831-111697842 chr3:111697831-111697842 chr3:111697759-111697770
19	POLR2A	chr3:111697455-111698512	GM12892	blood:	n/a	n/a
20	YY1	chr3:111697642-111698264	A549	lung:	n/a	chr3:111697904-111697916 chr3:111697900-111697917
21	POLR2A	chr3:111697482-111698160	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr3:111697377-111698796	HepG2	liver:	n/a	n/a
23	TAF1	chr3:111697391-111698354	H1-hESC	embryonic stem cell:	n/a	n/a
24	HEY1	chr3:111697681-111698093	K562	blood:	n/a	n/a
25	RCOR1	chr3:111697488-111697889	K562	blood:	n/a	n/a
26	TBP	chr3:111697406-111698280	HepG2	liver:	n/a	n/a
27	SIN3A	chr3:111697344-111698781	H1-hESC	embryonic stem cell:	n/a	n/a
28	HMGN3	chr3:111697518-111698184	K562	blood:	n/a	n/a
29	TEAD4	chr3:111697611-111698082	K562	blood:	n/a	n/a
30	TBP	chr3:111697466-111698231	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr3:111697356-111698824	HCT-116	colon:	n/a	n/a
32	POLR2A	chr3:111697656-111698236	GM12878	blood:	n/a	n/a
33	TAF1	chr3:111697626-111698045	PFSK-1	brain:	n/a	n/a
34	RCOR1	chr3:111697406-111698244	K562	blood:	n/a	n/a
35	POLR2A	chr3:111697493-111698824	HepG2	liver:	n/a	n/a
36	RFX5	chr3:111697679-111698008	GM12878	blood:	n/a	n/a
37	IRF1	chr3:111697633-111698529	K562	blood:	n/a	n/a
38	HDAC2	chr3:111697396-111698186	MCF-7	breast:	n/a	n/a
39	MAX	chr3:111697602-111698164	K562	blood:	n/a	n/a
40	POLR2A	chr3:111697464-111698510	PBDE	blood:	n/a	n/a
41	TAF1	chr3:111697429-111698201	SK-N-SH	brain:	n/a	n/a
42	POLR2A	chr3:111697580-111698099	GM12878	blood:	n/a	n/a
43	POLR2A	chr3:111697390-111698226	ECC-1	luminal epithelium:	n/a	n/a
44	CHD2	chr3:111697422-111698311	Hela-S3	cervix:	n/a	n/a
45	BCL3	chr3:111697265-111698524	A549	lung:	n/a	n/a
46	POLR2A	chr3:111697338-111698380	Hela-S3	cervix:	n/a	n/a
47	ZC3H11A	chr3:111697616-111698050	K562	blood:	n/a	n/a
48	TCF12	chr3:111697242-111698350	A549	lung:	n/a	n/a
49	POLR2A	chr3:111697438-111698230	PFSK-1	brain:	n/a	n/a
50	POLR2A	chr3:111697442-111698239	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:111697672-111697722	HL-60	blood:	n/a
2	chr3:111697672-111697722	GM12892	blood:	n/a
3	chr3:111697672-111697722	NH-A	brain:	n/a
4	chr3:111697672-111697722	AoSMC	blood vessel:	n/a
5	chr3:111697672-111697722	MCF-7	breast:	n/a
6	chr3:111697653-111697703	HepG2	liver:	n/a
7	chr3:111697653-111697703	ECC-1	luminal epithelium:	n/a
8	chr3:111697672-111697722	HNPCEpiC	eye:	n/a
9	chr3:111697672-111697722	HCT-116	colon:	n/a
10	chr3:111697672-111697722	BJ	skin:	n/a
11	chr3:111697672-111697722	BE2_C	brain:	n/a
12	chr3:111697653-111697703	AoSMC	blood vessel:	n/a
13	chr3:111697672-111697722	NT2-D1	testis:	n/a
14	chr3:111697672-111697722	HAEpiC	amniotic membrane:	n/a
15	chr3:111697653-111697703	HRCEpiC	kidney:	n/a
16	chr3:111697672-111697722	CMK	blood:	n/a
17	chr3:111697653-111697703	HL-60	blood:	n/a
18	chr3:111697653-111697703	MCF10A-Er-Src	breast:	n/a
19	chr3:111697653-111697703	NHDF-neo	bronchial:	n/a
20	chr3:111697653-111697703	IMR90	lung:	fetal
21	chr3:111697672-111697722	H1-hESC	embryonic stem cell:	embryo
22	chr3:111697653-111697703	H1-hESC	embryonic stem cell:	embryo
23	chr3:111697653-111697703	PFSK-1	brain:	n/a
24	chr3:111697672-111697722	LNCaP	prostate:	n/a
25	chr3:111697672-111697722	GM12891	blood:	n/a
26	chr3:111697672-111697722	HRCEpiC	kidney:	n/a
27	chr3:111697653-111697703	HCT-116	colon:	n/a
28	chr3:111697672-111697722	HUVEC	blood vessel:	n/a
29	chr3:111697653-111697703	HCF	heart:	n/a
30	chr3:111697672-111697722	U87	brain:	n/a
31	chr3:111697672-111697722	T-47D	breast:	n/a
32	chr3:111697653-111697703	RPTEC	kidney:	n/a
33	chr3:111697672-111697722	ovcar-3	ovarian:	n/a
34	chr3:111697653-111697703	MCF-7	breast:	n/a
35	chr3:111697653-111697703	PrEC	prostate:	n/a
36	chr3:111697653-111697703	BE2_C	brain:	n/a
37	chr3:111697653-111697703	GM12892	blood:	n/a
38	chr3:111697653-111697703	AG09319	gingival:	n/a
39	chr3:111697653-111697703	SK-N-SH	brain:	n/a
40	chr3:111697672-111697722	NHDF-neo	bronchial:	n/a
41	chr3:111697653-111697703	HRPEpiC	eye:	n/a
42	chr3:111697653-111697703	K562	blood:	n/a
43	chr3:111697653-111697703	HNPCEpiC	eye:	n/a
44	chr3:111697653-111697703	AG04449	skin:	fetal
45	chr3:111697672-111697722	Hela-S3	cervix:	n/a
46	chr3:111697672-111697722	PrEC	prostate:	n/a
47	chr3:111697653-111697703	GM12878	blood:	n/a
48	chr3:111697672-111697722	RPTEC	kidney:	n/a
49	chr3:111697672-111697722	HCF	heart:	n/a
50	chr3:111697653-111697703	AG04450	lung:	fetal

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

No.	Distal block	Cell Line	Cell type
1	chr22:38452789..38453743-chr3:111697305..111698254,2	Hela-S3	cervix:
2	chr3:111697339..111697981-chr7:72992546..72993407,2	Hela-S3	cervix:
3	chr3:111576494..111579081-chr3:111696421..111699159,2	MCF-7	breast:

No data

Variant related genes	Relation type
ABHD10	TF binding region
ABHD10	CpG island
ENSG00000144824	Chromatin interaction
ENSG00000100151	Chromatin interaction
ENSG00000106638	Chromatin interaction

rs_ID	r²[population]
rs1388629	0.85[CHB][hapmap]
rs16859002	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs774747	1.00[CHB][hapmap];1.00[GIH][hapmap];0.90[ASN][1000 genomes]

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:111690800-111697800	Weak transcription	Spleen	Spleen
2	chr3:111696800-111699200	Active TSS	Fetal Lung	lung
3	chr3:111697000-111698800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr3:111697000-111699000	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr3:111697200-111697800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
6	chr3:111697200-111697800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr3:111697200-111697800	Active TSS	HepG2	liver
8	chr3:111697200-111698200	Active TSS	Adipose Nuclei	Adipose
9	chr3:111697200-111698400	Active TSS	Brain Substantia Nigra	brain
10	chr3:111697200-111698400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
11	chr3:111697200-111698400	Active TSS	Rectal Mucosa Donor 29	rectum
12	chr3:111697200-111698400	Active TSS	Skeletal Muscle Male	skeletal muscle
13	chr3:111697200-111698400	Active TSS	HUVEC	blood vessel
14	chr3:111697200-111698600	Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr3:111697200-111698600	Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr3:111697200-111698600	Active TSS	Osteobl	bone
17	chr3:111697200-111698800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr3:111697200-111698800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr3:111697200-111698800	Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr3:111697200-111698800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr3:111697200-111698800	Active TSS	Fetal Brain Female	brain
22	chr3:111697200-111698800	Active TSS	Fetal Intestine Large	intestine
23	chr3:111697200-111698800	Active TSS	Fetal Intestine Small	intestine
24	chr3:111697200-111698800	Active TSS	Fetal Kidney	kidney
25	chr3:111697200-111698800	Active TSS	Fetal Muscle Trunk	muscle
26	chr3:111697200-111698800	Active TSS	Psoas Muscle	Psoas
27	chr3:111697200-111698800	Active TSS	A549	lung
28	chr3:111697200-111699000	Active TSS	ES-I3 Cell Line	embryonic stem cell
29	chr3:111697200-111699000	Active TSS	HUES64 Cell Line	embryonic stem cell
30	chr3:111697200-111699000	Active TSS	Fetal Heart	heart
31	chr3:111697200-111699000	Active TSS	Fetal Stomach	stomach
32	chr3:111697200-111699000	Active TSS	Skeletal Muscle Female	skeletal muscle
33	chr3:111697200-111699200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr3:111697200-111699200	Active TSS	Brain Germinal Matrix	brain
35	chr3:111697200-111699200	Active TSS	Fetal Muscle Leg	muscle
36	chr3:111697200-111699200	Active TSS	Right Atrium	heart
37	chr3:111697200-111699400	Active TSS	iPS-18 Cell Line	embryonic stem cell
38	chr3:111697200-111699600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr3:111697200-111700000	Active TSS	HUES6 Cell Line	embryonic stem cell
40	chr3:111697400-111697800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
41	chr3:111697400-111697800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
42	chr3:111697400-111697800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
43	chr3:111697400-111697800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
44	chr3:111697400-111697800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
45	chr3:111697400-111697800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
46	chr3:111697400-111697800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
47	chr3:111697400-111697800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr3:111697400-111697800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr3:111697400-111697800	Active TSS	Aorta	Aorta
50	chr3:111697400-111697800	Flanking Active TSS	Placenta	Placenta

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