Variant report

Variant	rs7597154
Chromosome Location	chr2:179388490-179388491
allele	A/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	MYC	chr2:179387456-179388704	K562	blood:	n/a	chr2:179387821-179387830
2	ATF1	chr2:179387611-179388555	K562	blood:	n/a	n/a
3	POLR2A	chr2:179387582-179388811	GM19099	blood:	n/a	n/a
4	MAZ	chr2:179387317-179388681	IMR90	lung:	n/a	chr2:179387821-179387830
5	HMGN3	chr2:179387649-179388576	K562	blood:	n/a	n/a
6	MXI1	chr2:179387490-179388775	IMR90	lung:	n/a	n/a
7	MXI1	chr2:179388428-179388740	GM12878	blood:	n/a	n/a
8	POLR2A	chr2:179387612-179388695	K562	blood:	n/a	n/a
9	MTA3	chr2:179387464-179388665	GM12878	blood:	n/a	n/a
10	POLR2A	chr2:179387596-179388764	K562	blood:	n/a	n/a
11	MAFK	chr2:179387381-179388737	K562	blood:	n/a	chr2:179387865-179387876 chr2:179387865-179387876 chr2:179387865-179387880 chr2:179387866-179387877
12	TEAD4	chr2:179387586-179388865	K562	blood:	n/a	n/a
13	STAT5A	chr2:179387401-179388575	GM12878	blood:	n/a	n/a
14	MXI1	chr2:179387231-179389438	SK-N-SH	brain:	n/a	n/a
15	MXI1	chr2:179387688-179388492	K562	blood:	n/a	n/a
16	HCFC1	chr2:179387539-179388785	K562	blood:	n/a	n/a
17	POLR2A	chr2:179387637-179388821	GM12892	blood:	n/a	n/a
18	POLR2A	chr2:179387729-179388499	K562	blood:	n/a	n/a
19	POLR2A	chr2:179387714-179388726	Raji	blood:	n/a	n/a
20	PML	chr2:179387396-179388495	GM12878	blood:	n/a	n/a
21	CUX1	chr2:179387540-179388496	K562	blood:	n/a	n/a
22	BHLHE40	chr2:179388430-179388672	GM12878	blood:	n/a	n/a
23	POLR2A	chr2:179387555-179388923	GM12891	blood:	n/a	n/a
24	CTCF	chr2:179387183-179388552	SK-N-SH	brain:	n/a	n/a
25	WRNIP1	chr2:179387608-179388729	GM12878	blood:	n/a	n/a
26	POLR2A	chr2:179387644-179388681	PBDE	blood:	n/a	n/a
27	POLR2A	chr2:179387721-179388584	GM12878	blood:	n/a	n/a
28	POLR2A	chr2:179387673-179388643	MCF10A-Er-Src	breast:	n/a	n/a
29	CREB1	chr2:179387445-179388628	GM12878	blood:	n/a	n/a
30	POLR2A	chr2:179387624-179388654	K562	blood:	n/a	n/a
31	CHD1	chr2:179387119-179388906	IMR90	lung:	n/a	n/a
32	CBX3	chr2:179387202-179388625	K562	blood:	n/a	n/a
33	POLR2A	chr2:179388300-179388734	GM12891	blood:	n/a	n/a
34	NR2F2	chr2:179387426-179388849	K562	blood:	n/a	n/a
35	POLR2A	chr2:179387631-179388629	GM12892	blood:	n/a	n/a
36	CTCF	chr2:179388440-179388590	HEEpiC	esophagus:	n/a	n/a
37	BHLHE40	chr2:179387471-179388546	K562	blood:	n/a	n/a
38	POLR2A	chr2:179387609-179388804	GM12878	blood:	n/a	n/a
39	MYC	chr2:179387538-179388761	NB4	blood:	n/a	chr2:179387821-179387830
40	HCFC1	chr2:179387598-179388580	Hela-S3	cervix:	n/a	n/a
41	ZNF263	chr2:179387624-179388857	HEK293-T-REx	kidney:	n/a	chr2:179387956-179387977

No.	Distal block	Cell Line	Cell type
1	chr2:179314051..179317404-chr2:179386204..179389847,5	K562	blood:
2	chr2:179386627..179389310-chr2:179394176..179396606,2	MCF-7	breast:
3	chr2:179343391..179346043-chr2:179387218..179389955,4	K562	blood:
4	chr2:179386919..179391089-chr2:179391647..179398872,11	K562	blood:
5	chr2:179315192..179318591-chr2:179386093..179388793,4	K562	blood:

Variant related genes	Relation type
TTN-AS1	TF binding region
ENSG00000116095	Chromatin interaction
ENSG00000237298	Chromatin interaction
ENSG00000180228	Chromatin interaction
ENSG00000204311	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1007025	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12614435	0.91[CEU][hapmap]
rs12618265	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12998857	0.91[CEU][hapmap]
rs13005601	0.90[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13009158	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13029629	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13034990	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16866358	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16866365	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16866369	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16866373	1.00[CEU][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16866397	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16866406	1.00[CEU][hapmap];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2288325	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2288569	0.83[CEU][hapmap];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2288571	0.91[CEU][hapmap]
rs2303539	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2857265	1.00[CEU][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3731746	0.83[CEU][hapmap]
rs3731748	1.00[CEU][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3731749	1.00[CEU][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3731751	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3829747	1.00[CEU][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3829748	1.00[CEU][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6755456	0.91[CEU][hapmap]
rs744426	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs890578	0.91[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834467	chr2:179258140-179430965	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv834468	chr2:179351116-179533625	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179387200-179389400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
2	chr2:179387400-179388600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr2:179387400-179388600	Active TSS	Stomach Smooth Muscle	stomach
4	chr2:179387400-179388600	Active TSS	NH-A	brain
5	chr2:179387400-179388600	Active TSS	Osteobl	bone
6	chr2:179387400-179388800	Active TSS	Fetal Intestine Large	intestine
7	chr2:179387400-179388800	Active TSS	Fetal Intestine Small	intestine
8	chr2:179387400-179389000	Active TSS	Brain Angular Gyrus	brain
9	chr2:179387400-179389000	Active TSS	Brain Hippocampus Middle	brain
10	chr2:179387400-179389000	Active TSS	Fetal Stomach	stomach
11	chr2:179387400-179389200	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr2:179387400-179389200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr2:179387400-179389200	Active TSS	Brain Anterior Caudate	brain
14	chr2:179387400-179389200	Active TSS	Brain Inferior Temporal Lobe	brain
15	chr2:179387400-179389200	Active TSS	Ovary	ovary
16	chr2:179387400-179389200	Active TSS	NHLF	lung
17	chr2:179387400-179389400	Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr2:179387400-179389400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr2:179387400-179389400	Active TSS	Brain Cingulate Gyrus	brain
20	chr2:179387400-179389400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr2:179387400-179389400	Active TSS	Duodenum Smooth Muscle	Duodenum
22	chr2:179387400-179389400	Active TSS	HepG2	liver
23	chr2:179387400-179389600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr2:179387600-179388600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr2:179387600-179388600	Active TSS	Primary hematopoietic stem cells short term culture	blood
26	chr2:179387600-179388600	Active TSS	Primary T helper naive cells from peripheral blood	blood
27	chr2:179387600-179388600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
28	chr2:179387600-179388600	Active TSS	Colon Smooth Muscle	Colon
29	chr2:179387600-179388600	Active TSS	Fetal Heart	heart
30	chr2:179387600-179388800	Active TSS	Cortex derived primary cultured neurospheres	brain
31	chr2:179387600-179388800	Active TSS	Duodenum Mucosa	Duodenum
32	chr2:179387600-179388800	Active TSS	Esophagus	oesophagus
33	chr2:179387600-179388800	Active TSS	Fetal Kidney	kidney
34	chr2:179387600-179388800	Active TSS	Fetal Muscle Trunk	muscle
35	chr2:179387600-179388800	Active TSS	Skeletal Muscle Male	skeletal muscle
36	chr2:179387600-179389000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr2:179387600-179389000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr2:179387600-179389000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr2:179387600-179389000	Active TSS	Aorta	Aorta
40	chr2:179387600-179389000	Active TSS	Fetal Brain Female	brain
41	chr2:179387600-179389000	Active TSS	Rectal Mucosa Donor 29	rectum
42	chr2:179387600-179389200	Active TSS	iPS-15b Cell Line	embryonic stem cell
43	chr2:179387600-179389200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr2:179387600-179389200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr2:179387600-179389200	Active TSS	Pancreatic Islets	Pancreatic Islet
46	chr2:179387600-179389200	Active TSS	Rectal Smooth Muscle	rectum
47	chr2:179387600-179389200	Active TSS	NHDF-Ad	bronchial
48	chr2:179387600-179389400	Active TSS	H1 Cell Line	embryonic stem cell
49	chr2:179387600-179389400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr2:179387600-179389400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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