Variant report

Variant	rs1861462
Chromosome Location	chr2:171627676-171627677
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:167)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:167 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:171626666-171627776	Raji	blood:	n/a	n/a
2	POLR2A	chr2:171626705-171628150	HCT-116	colon:	n/a	n/a
3	CTCF	chr2:171627620-171627781	GM19239	blood:	n/a	n/a
4	POLR2A	chr2:171626992-171628079	HCT-116	colon:	n/a	n/a
5	E2F6	chr2:171626907-171628103	K562	blood:	n/a	chr2:171627722-171627733 chr2:171627155-171627164
6	SIN3A	chr2:171626617-171628262	H1-hESC	embryonic stem cell:	n/a	n/a
7	MYC	chr2:171626556-171628445	K562	blood:	n/a	n/a
8	YY1	chr2:171627541-171628043	HepG2	liver:	n/a	n/a
9	TEAD4	chr2:171626530-171628255	K562	blood:	n/a	n/a
10	RAD21	chr2:171627508-171628127	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr2:171627600-171627750	WERI-Rb-1	eye:	n/a	n/a
12	POLR2A	chr2:171627491-171628038	U87	brain:	n/a	n/a
13	CEBPD	chr2:171627490-171627777	HepG2	liver:	n/a	n/a
14	RCOR1	chr2:171626577-171628333	K562	blood:	n/a	n/a
15	CHD2	chr2:171627510-171627966	HepG2	liver:	n/a	n/a
16	EGR1	chr2:171627019-171628019	K562	blood:	n/a	chr2:171627156-171627169
17	CTCF	chr2:171627597-171627758	MCF-7	breast:	n/a	n/a
18	CTCF	chr2:171627604-171628012	MCF-7	breast:	n/a	n/a
19	JUND	chr2:171626621-171628390	K562	blood:	n/a	chr2:171626874-171626883
20	MAX	chr2:171627660-171627995	A549	lung:	n/a	n/a
21	MAX	chr2:171626457-171628144	ECC-1	luminal epithelium:	n/a	n/a
22	CTCF	chr2:171627637-171627728	GM12891	blood:	n/a	n/a
23	TAF1	chr2:171627393-171628099	K562	blood:	n/a	n/a
24	MAX	chr2:171626729-171628211	HepG2	liver:	n/a	n/a
25	MAZ	chr2:171627580-171627745	Hela-S3	cervix:	n/a	n/a
26	SIN3AK20	chr2:171627492-171627739	HepG2	liver:	n/a	n/a
27	ZBTB7A	chr2:171627490-171628113	K562	blood:	n/a	n/a
28	ZNF263	chr2:171627562-171628204	HEK293-T-REx	kidney:	n/a	n/a
29	UBTF	chr2:171627521-171628144	K562	blood:	n/a	n/a
30	SMC3	chr2:171627668-171627812	K562	blood:	n/a	n/a
31	ZNF143	chr2:171626781-171627831	GM12878	blood:	n/a	n/a
32	POLR2A	chr2:171627629-171627969	MCF10A-Er-Src	breast:	n/a	n/a
33	MAX	chr2:171627121-171627828	H1-hESC	embryonic stem cell:	n/a	n/a
34	REST	chr2:171627401-171628343	H1-neurons	neurons:	n/a	chr2:171627459-171627468
35	POLR2A	chr2:171626594-171628138	K562	blood:	n/a	n/a
36	E2F6	chr2:171627353-171627686	K562	blood:	n/a	n/a
37	POLR2A	chr2:171626734-171627889	MCF-7	breast:	n/a	n/a
38	POLR2A	chr2:171626471-171627811	MCF10A-Er-Src	breast:	n/a	n/a
39	MAZ	chr2:171626687-171627955	GM12878	blood:	n/a	n/a
40	ELF1	chr2:171627503-171627906	GM12878	blood:	n/a	n/a
41	MXI1	chr2:171627530-171627890	GM12878	blood:	n/a	n/a
42	CTCF	chr2:171627600-171627750	HRE	kidney:	n/a	n/a
43	TAL1	chr2:171627627-171627876	K562	blood:	n/a	n/a
44	CTCF	chr2:171627627-171627760	ProgFib	skin:	n/a	n/a
45	CTCF	chr2:171627652-171627728	Pancreas_OC	pancreas:	n/a	n/a
46	CTCF	chr2:171627662-171627745	GM10248	blood:	n/a	n/a
47	EP300	chr2:171627524-171627708	GM12878	blood:	n/a	n/a
48	POLR2A	chr2:171627485-171628137	K562	blood:	n/a	n/a
49	BHLHE40	chr2:171626557-171628110	K562	blood:	n/a	n/a
50	HDAC2	chr2:171627501-171628039	HepG2	liver:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:171626807..171627736-chr2:171785217..171786089,2	K562	blood:
2	chr2:171551254..171553875-chr2:171627216..171628911,2	MCF-7	breast:
3	chr2:171570330..171572699-chr2:171627295..171629894,2	MCF-7	breast:
4	chr2:171627023..171629009-chr2:171784250..171786840,2	K562	blood:
5	chr2:171571171..171574868-chr2:171624858..171628652,5	K562	blood:
6	chr2:171568787..171573894-chr2:171626202..171629385,10	K562	blood:
7	chr2:171626961..171629009-chr2:171784250..171787377,4	K562	blood:

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC007405.7.1-1	chr2:171627556-171627697	XLOC_001748
2	lnc-AC007405.7.1-1	chr2:171627623-171627697	XLOC_001748
3	lnc-AC007405.7.1-1	chr2:171627623-171627937	XLOC_001748
4	lnc-AC007405.7.1-1	chr2:171627522-171627937	XLOC_001748
5	lnc-AC007405.7.1-1	chr2:171627604-171627937	NONHSAT075425
6	lnc-AC007405.7.1-1	chr2:171627604-171627697	NONHSAT075426
7	lnc-AC007405.7.1-1	chr2:171627582-171627697	NONHSAT075421
8	lnc-AC007405.7.1-1	chr2:171627518-171627937	NONHSAT075422

No data

Variant related genes	Relation type
ENSG00000234350	TF binding region
ENSG00000213981	Chromatin interaction
ENSG00000115806	Chromatin interaction
ENSG00000204335	Chromatin interaction
ENSG00000222033	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2058726	0.81[YRI][hapmap]
rs4668309	0.93[YRI][hapmap];0.80[AMR][1000 genomes]
rs4668312	0.85[YRI][hapmap]
rs769402	1.00[CHB][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3329790	chr2:171626331-171628879	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:171626200-171627800	Active TSS	GM12878-XiMat	blood
2	chr2:171626200-171628000	Active TSS	Colon Smooth Muscle	Colon
3	chr2:171626400-171628000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:171626400-171628200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:171626400-171628200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:171626400-171628200	Active TSS	HMEC	breast
7	chr2:171626400-171628400	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr2:171626400-171628400	Active TSS	Brain Anterior Caudate	brain
9	chr2:171626400-171628400	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr2:171626600-171627800	Active TSS	Brain Substantia Nigra	brain
11	chr2:171626600-171628000	Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr2:171626600-171628000	Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr2:171626600-171628000	Active TSS	Brain Angular Gyrus	brain
14	chr2:171626600-171628000	Active TSS	Pancreas	Pancrea
15	chr2:171626600-171628000	Active TSS	Stomach Smooth Muscle	stomach
16	chr2:171626600-171628000	Active TSS	NHLF	lung
17	chr2:171626600-171628200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr2:171626600-171628200	Active TSS	Right Ventricle	heart
19	chr2:171626600-171628200	Bivalent/Poised TSS	Thymus	Thymus
20	chr2:171626600-171628200	Bivalent/Poised TSS	HSMM	muscle
21	chr2:171626600-171628200	Active TSS	HSMMtube	muscle
22	chr2:171626600-171628400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr2:171626600-171628400	Active TSS	Brain Hippocampus Middle	brain
24	chr2:171626600-171628400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr2:171626600-171628600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr2:171626600-171628600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr2:171626600-171628800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
28	chr2:171626600-171628800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr2:171626800-171627800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr2:171626800-171627800	Active TSS	HUES48 Cell Line	embryonic stem cell
31	chr2:171626800-171627800	Active TSS	Fetal Heart	heart
32	chr2:171626800-171627800	Active TSS	Fetal Kidney	kidney
33	chr2:171626800-171627800	Active TSS	NHDF-Ad	bronchial
34	chr2:171626800-171628000	Active TSS	HUES64 Cell Line	embryonic stem cell
35	chr2:171626800-171628000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr2:171626800-171628000	Active TSS	Fetal Intestine Large	intestine
37	chr2:171626800-171628000	Active TSS	Gastric	stomach
38	chr2:171626800-171628000	Active TSS	Placenta Amnion	Placenta Amnion
39	chr2:171626800-171628200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr2:171626800-171628200	Active TSS	H9 Cell Line	embryonic stem cell
41	chr2:171626800-171628200	Active TSS	iPS-15b Cell Line	embryonic stem cell
42	chr2:171626800-171628200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr2:171626800-171628200	Active TSS	Aorta	Aorta
44	chr2:171626800-171628200	Active TSS	Duodenum Mucosa	Duodenum
45	chr2:171626800-171628200	Active TSS	Rectal Smooth Muscle	rectum
46	chr2:171626800-171628200	Active TSS	Stomach Mucosa	stomach
47	chr2:171626800-171628200	Bivalent/Poised TSS	A549	lung
48	chr2:171626800-171628400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
49	chr2:171626800-171628600	Active TSS	H1 Cell Line	embryonic stem cell
50	chr2:171626800-171628600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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