Variant report

Variant	rs62183859
Chromosome Location	chr2:172968775-172968776
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:331)
CpG islands
(count:61)
Chromatin interactive
region (count:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:331 , 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	JUND	chr2:172968609-172968941	H1-hESC	embryonic stem cell:	n/a	chr2:172968782-172968791
2	CTCF	chr2:172968659-172968879	GM20000	blood:	n/a	n/a
3	CTCF	chr2:172968610-172968894	NHEK	skin:	n/a	n/a
4	CTCF	chr2:172968680-172968830	HCT-116	colon:	n/a	n/a
5	SP1	chr2:172968527-172968875	GM12878	blood:	n/a	chr2:172968783-172968793 chr2:172968784-172968793 chr2:172968782-172968794 chr2:172968779-172968793 chr2:172968783-172968793 chr2:172968784-172968793 chr2:172968783-172968792 chr2:172968782-172968794
6	POLR2A	chr2:172968631-172968797	K562	blood:	n/a	n/a
7	YY1	chr2:172968598-172968878	GM12891	blood:	n/a	chr2:172968783-172968792
8	CTCF	chr2:172968660-172968810	GM12872	blood:	n/a	n/a
9	CTCF	chr2:172968680-172968830	HEEpiC	esophagus:	n/a	n/a
10	BHLHE40	chr2:172967110-172969049	GM12878	blood:	n/a	chr2:172967667-172967676 chr2:172967660-172967681 chr2:172967666-172967675 chr2:172967664-172967677 chr2:172967666-172967675 chr2:172967665-172967674
11	CTCF	chr2:172968615-172968894	MCF-7	breast:	n/a	n/a
12	POLR2A	chr2:172968707-172968788	HUVEC	blood vessel:	n/a	n/a
13	SIN3AK20	chr2:172968607-172968865	PANC-1	pancreas:	n/a	n/a
14	HNF4A	chr2:172968526-172968937	HepG2	liver:	n/a	n/a
15	SMC3	chr2:172968379-172969026	GM12878	blood:	n/a	n/a
16	CTCF	chr2:172968614-172968900	MCF-7	breast:	n/a	n/a
17	CBX3	chr2:172968471-172968928	K562	blood:	n/a	n/a
18	UBTF	chr2:172968527-172968839	K562	blood:	n/a	n/a
19	GTF2F1	chr2:172968594-172968897	Hela-S3	cervix:	n/a	n/a
20	CTCF	chr2:172968654-172968862	LNCaP	prostate:	n/a	n/a
21	CTCF	chr2:172968576-172968897	K562	blood:	n/a	n/a
22	RCOR1	chr2:172968606-172968880	K562	blood:	n/a	n/a
23	CTCF	chr2:172968264-172969329	A549	lung:	n/a	n/a
24	CTCF	chr2:172968618-172968893	A549	lung:	n/a	n/a
25	CTCF	chr2:172968607-172968909	GM19238	blood:	n/a	n/a
26	CTCF	chr2:172968317-172969258	HCT-116	colon:	n/a	n/a
27	MYC	chr2:172968772-172968794	HUVEC	blood vessel:	n/a	n/a
28	CTCF	chr2:172968411-172969061	HCT-116	colon:	n/a	n/a
29	CTCF	chr2:172968680-172968830	HFF-Myc	foreskin:	n/a	n/a
30	ESRRA	chr2:172968538-172968905	HepG2	liver:	n/a	n/a
31	REST	chr2:172968573-172968899	PFSK-1	brain:	n/a	n/a
32	EP300	chr2:172968620-172968831	SK-N-SH_RA	brain:	n/a	n/a
33	CTCF	chr2:172968660-172968810	HCFaa	heart:	n/a	n/a
34	RAD21	chr2:172968567-172968912	GM12878	blood:	n/a	n/a
35	HMGN3	chr2:172968661-172968912	K562	blood:	n/a	n/a
36	CTCF	chr2:172968700-172968850	GM12866	blood:	n/a	n/a
37	CTCF	chr2:172968680-172968830	HMEC	breast:	n/a	n/a
38	MAX	chr2:172968608-172968904	K562	blood:	n/a	n/a
39	YY1	chr2:172968600-172968825	K562	blood:	n/a	chr2:172968783-172968792
40	SMC3	chr2:172968533-172969001	K562	blood:	n/a	n/a
41	CTCF	chr2:172968613-172968900	GM12891	blood:	n/a	n/a
42	RAD21	chr2:172968441-172969101	A549	lung:	n/a	n/a
43	CTCF	chr2:172968606-172968906	GM19240	blood:	n/a	n/a
44	CTCF	chr2:172968660-172968810	NHLF	lung:	n/a	n/a
45	CTCF	chr2:172968700-172968850	SK-N-SH_RA	brain:	n/a	n/a
46	CHD2	chr2:172968594-172968893	Hela-S3	cervix:	n/a	n/a
47	JUND	chr2:172968587-172968885	A549	lung:	n/a	chr2:172968782-172968791
48	CTCF	chr2:172968660-172968810	Hela-S3	cervix:	n/a	n/a
49	CTCF	chr2:172968720-172968870	HEK293	kidney:	n/a	n/a
50	FOXP2	chr2:172968588-172968978	SK-N-MC	brain:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:172968752-172968802	SAEC	small airway:	n/a
2	chr2:172968752-172968802	HCPEpiC	choroid plexus:	n/a
3	chr2:172968752-172968802	HEK293	kidney:	embryo
4	chr2:172968752-172968802	GM12891	blood:	n/a
5	chr2:172968752-172968802	AG09319	gingival:	n/a
6	chr2:172968752-172968802	GM12892	blood:	n/a
7	chr2:172968752-172968802	AG04450	lung:	fetal
8	chr2:172968752-172968802	HRPEpiC	eye:	n/a
9	chr2:172968752-172968802	GM19239	blood:	n/a
10	chr2:172968752-172968802	AG10803	skin:	n/a
11	chr2:172968752-172968802	Hela-S3	cervix:	n/a
12	chr2:172968752-172968802	HCT-116	colon:	n/a
13	chr2:172968752-172968802	SK-N-SH_RA	brain:	n/a
14	chr2:172968752-172968802	HCM	heart:	n/a
15	chr2:172968752-172968802	HL-60	blood:	n/a
16	chr2:172968752-172968802	Hepatocyte	liver:	n/a
17	chr2:172968752-172968802	MCF10A-Er-Src	breast:	n/a
18	chr2:172968752-172968802	RPTEC	kidney:	n/a
19	chr2:172968752-172968802	HRE	kidney:	n/a
20	chr2:172968752-172968802	H1-hESC	embryonic stem cell:	embryo
21	chr2:172968752-172968802	A549	lung:	n/a
22	chr2:172968752-172968802	BE2_C	brain:	n/a
23	chr2:172968752-172968802	SKMC	muscle:	n/a
24	chr2:172968752-172968802	ECC-1	luminal epithelium:	n/a
25	chr2:172968752-172968802	ProgFib	skin:	n/a
26	chr2:172968752-172968802	U87	brain:	n/a
27	chr2:172968752-172968802	PFSK-1	brain:	n/a
28	chr2:172968752-172968802	HCF	heart:	n/a
29	chr2:172968752-172968802	MCF-7	breast:	n/a
30	chr2:172968752-172968802	LNCaP	prostate:	n/a
31	chr2:172968752-172968802	SK-N-MC	brain:	n/a
32	chr2:172968752-172968802	HIPEpiC	eye:	n/a
33	chr2:172968752-172968802	IMR90	lung:	fetal
34	chr2:172968752-172968802	AoSMC	blood vessel:	n/a
35	chr2:172968752-172968802	PANC-1	pancreas:	n/a
36	chr2:172968752-172968802	HNPCEpiC	eye:	n/a
37	chr2:172968752-172968802	HEEpiC	esophagus:	n/a
38	chr2:172968752-172968802	Caco-2	colon:	n/a
39	chr2:172968752-172968802	HUVEC	blood vessel:	n/a
40	chr2:172968752-172968802	ovcar-3	ovarian:	n/a
41	chr2:172968752-172968802	NH-A	brain:	n/a
42	chr2:172968752-172968802	Jurkat	blood:	n/a
43	chr2:172968752-172968802	HPAEpiC	pulmonary alveolar:	n/a
44	chr2:172968752-172968802	PrEC	prostate:	n/a
45	chr2:172968752-172968802	NB4	blood:	n/a
46	chr2:172968752-172968802	T-47D	breast:	n/a
47	chr2:172968752-172968802	K562	blood:	n/a
48	chr2:172968752-172968802	HepG2	liver:	n/a
49	chr2:172968752-172968802	BJ	skin:	n/a
50	chr2:172968752-172968802	GM06990	blood:	n/a

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:172797519..172798110-chr2:172968343..172969092,2	MCF-7	breast:
2	chr2:172813738..172814242-chr2:172968541..172969149,2	MCF-7	breast:
3	chr2:172813132..172813902-chr2:172968337..172969167,2	K562	blood:
4	chr2:172560578..172564258-chr2:172967186..172970481,4	K562	blood:
5	chr2:172559867..172560730-chr2:172968303..172969236,3	K562	blood:
6	chr2:172864353..172865224-chr2:172968252..172969055,2	K562	blood:
7	chr2:172863226..172865802-chr2:172966081..172969208,5	MCF-7	breast:
8	chr2:172289978..172291717-chr2:172966936..172969521,2	K562	blood:
9	chr2:172667394..172668045-chr2:172968332..172969197,4	MCF-7	breast:
10	chr2:172289880..172292267-chr2:172966936..172969958,3	K562	blood:
11	chr2:172862808..172868920-chr2:172961807..172971063,13	K562	blood:
12	chr2:172968260..172969180-chr2:172991674..172992572,4	MCF-7	breast:
13	chr2:172966170..172969056-chr2:173419829..173422762,2	MCF-7	breast:
14	chr2:172667374..172668555-chr2:172968288..172969185,6	K562	blood:
15	chr2:172430311..172431250-chr2:172968298..172968839,3	K562	blood:
16	chr2:172861569..172867068-chr2:172965912..172971063,13	K562	blood:
17	chr2:172778049..172781927-chr2:172965294..172970550,9	K562	blood:
18	chr2:172968338..172969261-chr2:172978079..172978605,2	K562	blood:
19	chr2:172562314..172563371-chr2:172968284..172969199,6	K562	blood:

No data

Variant related genes	Relation type
DLX2	TF binding region
DLX2	CpG island
ENSG00000115827	Chromatin interaction
ENSG00000123600	Chromatin interaction
ENSG00000115840	Chromatin interaction
ENSG00000077380	Chromatin interaction
ENSG00000225205	Chromatin interaction
ENSG00000128708	Chromatin interaction
ENSG00000172878	Chromatin interaction
ENSG00000152256	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1001780	1.00[ASN][1000 genomes]
rs17726121	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62183857	0.91[ASN][1000 genomes]
rs62183858	1.00[ASN][1000 genomes]
rs62184960	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62184961	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62184962	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172966000-172968800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
2	chr2:172966200-172968800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr2:172967000-172968800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr2:172967400-172968800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr2:172967400-172969000	Active TSS	Brain Germinal Matrix	brain
6	chr2:172967600-172968800	Flanking Active TSS	Dnd41	blood
7	chr2:172967800-172968800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:172967800-172968800	Flanking Active TSS	K562	blood
9	chr2:172967800-172968800	Flanking Active TSS	NHEK	skin
10	chr2:172968000-172969000	Bivalent Enhancer	Fetal Intestine Small	intestine
11	chr2:172968000-172969000	Bivalent Enhancer	Placenta	Placenta
12	chr2:172968000-172969000	Bivalent Enhancer	Fetal Stomach	stomach
13	chr2:172968000-172969200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
14	chr2:172968000-172969200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
15	chr2:172968000-172970600	Weak transcription	Pancreas	Pancrea
16	chr2:172968000-172974800	Weak transcription	Gastric	stomach
17	chr2:172968200-172968800	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr2:172968200-172968800	Bivalent Enhancer	Fetal Muscle Leg	muscle
19	chr2:172968200-172968800	Bivalent Enhancer	Stomach Mucosa	stomach
20	chr2:172968200-172968800	Flanking Active TSS	A549	lung
21	chr2:172968200-172969000	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
22	chr2:172968200-172969000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr2:172968200-172969000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
24	chr2:172968200-172969200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
25	chr2:172968200-172969200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
26	chr2:172968200-172969200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
27	chr2:172968200-172969200	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
28	chr2:172968200-172969200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
29	chr2:172968200-172969200	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
30	chr2:172968200-172969200	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
31	chr2:172968200-172969400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
32	chr2:172968200-172970400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr2:172968200-172970400	Weak transcription	HSMM	muscle
34	chr2:172968200-172971000	Weak transcription	Right Atrium	heart
35	chr2:172968200-172971200	Bivalent Enhancer	Fetal Thymus	thymus
36	chr2:172968400-172968800	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr2:172968400-172968800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr2:172968400-172968800	Bivalent Enhancer	Adipose Nuclei	Adipose
39	chr2:172968400-172968800	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
40	chr2:172968400-172969000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr2:172968400-172969000	Bivalent Enhancer	Duodenum Mucosa	Duodenum
42	chr2:172968400-172969200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
43	chr2:172968400-172969200	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
44	chr2:172968400-172969200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
45	chr2:172968400-172969200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr2:172968400-172970200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr2:172968400-172970200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr2:172968400-172970800	Weak transcription	HMEC	breast
49	chr2:172968600-172968800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
50	chr2:172968600-172968800	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood

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