Variant report

Variant	rs1135617
Chromosome Location	chr2:153575729-153575730
allele	A/C
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	MBD4	chr2:153573120-153575962	HepG2	liver:	n/a	n/a
2	TAF1	chr2:153573418-153575850	A549	lung:	n/a	n/a
3	SIN3AK20	chr2:153573674-153575785	PANC-1	pancreas:	n/a	n/a
4	E2F6	chr2:153573491-153575937	K562	blood:	n/a	chr2:153575129-153575138 chr2:153575130-153575137 chr2:153575129-153575137 chr2:153575130-153575137 chr2:153575130-153575137 chr2:153575686-153575698
5	CUX1	chr2:153574130-153576035	K562	blood:	n/a	n/a
6	TAF1	chr2:153573505-153575807	K562	blood:	n/a	n/a
7	POLR2A	chr2:153572495-153576612	MCF10A-Er-Src	breast:	n/a	n/a
8	MAX	chr2:153573629-153575904	K562	blood:	n/a	n/a
9	SIN3A	chr2:153573139-153575943	H1-hESC	embryonic stem cell:	n/a	chr2:153574775-153574788
10	TAF1	chr2:153573339-153575837	ECC-1	luminal epithelium:	n/a	n/a
11	MAX	chr2:153573380-153575816	Hela-S3	cervix:	n/a	chr2:153573447-153573457
12	PML	chr2:153573188-153576331	K562	blood:	n/a	n/a
13	RELA	chr2:153573462-153575836	GM10847	blood:	n/a	n/a
14	MAX	chr2:153573419-153575873	MCF-7	breast:	n/a	chr2:153573447-153573457
15	UBTF	chr2:153574751-153576003	K562	blood:	n/a	n/a
16	RELA	chr2:153573379-153576078	GM12891	blood:	n/a	n/a
17	POLR2A	chr2:153573583-153576096	GM18526	blood:	n/a	n/a
18	POLR2A	chr2:153575695-153575733	ProgFib	skin:	n/a	n/a
19	HEY1	chr2:153573173-153576234	K562	blood:	n/a	chr2:153575077-153575092 chr2:153575049-153575064
20	POLR2A	chr2:153573701-153576055	HCT-116	colon:	n/a	n/a
21	JUND	chr2:153573705-153575839	MCF-7	breast:	n/a	chr2:153574146-153574155 chr2:153574147-153574156 chr2:153575007-153575021
22	POLR2A	chr2:153573678-153576078	U87	brain:	n/a	n/a
23	YY1	chr2:153573686-153575750	K562	blood:	n/a	n/a
24	POLR2A	chr2:153573484-153575789	HCT-116	colon:	n/a	n/a
25	POLR2A	chr2:153573256-153576290	SK-N-MC	brain:	n/a	n/a
26	POLR2A	chr2:153573676-153576071	H1-hESC	embryonic stem cell:	n/a	n/a
27	PRDM1	chr2:153575501-153575968	Hela-S3	cervix:	n/a	chr2:153575612-153575627
28	GATA3	chr2:153573631-153575871	MCF-7	breast:	n/a	chr2:153573654-153573661 chr2:153573647-153573668 chr2:153573650-153573666 chr2:153573654-153573661 chr2:153573654-153573661
29	POLR2A	chr2:153573363-153575781	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr2:153573368-153576232	HepG2	liver:	n/a	n/a
31	HDAC2	chr2:153573731-153575851	MCF-7	breast:	n/a	n/a
32	MAX	chr2:153573298-153575884	HepG2	liver:	n/a	chr2:153573447-153573457
33	TAF1	chr2:153573292-153575798	H1-hESC	embryonic stem cell:	n/a	n/a
34	TAF1	chr2:153573467-153575932	ECC-1	luminal epithelium:	n/a	n/a
35	YY1	chr2:153574394-153576010	ECC-1	luminal epithelium:	n/a	n/a
36	MAZ	chr2:153573347-153576076	K562	blood:	n/a	chr2:153573447-153573457
37	HEY1	chr2:153573622-153576185	K562	blood:	n/a	chr2:153575077-153575092 chr2:153575049-153575064
38	POLR2A	chr2:153573434-153576142	NB4	blood:	n/a	n/a
39	POLR2A	chr2:153573637-153575740	GM12878	blood:	n/a	n/a
40	PML	chr2:153573249-153576154	GM12878	blood:	n/a	n/a
41	E2F6	chr2:153574900-153575896	H1-hESC	embryonic stem cell:	n/a	chr2:153575129-153575138 chr2:153575130-153575137 chr2:153575129-153575137 chr2:153575130-153575137 chr2:153575130-153575137 chr2:153575686-153575698
42	RELA	chr2:153573443-153575960	GM15510	blood:	n/a	n/a
43	MXI1	chr2:153573116-153575788	GM12878	blood:	n/a	chr2:153575089-153575098
44	HCFC1	chr2:153573358-153575813	K562	blood:	n/a	n/a
45	NFYB	chr2:153573360-153575748	K562	blood:	n/a	chr2:153575059-153575074 chr2:153575061-153575076
46	MAX	chr2:153575103-153575793	H1-hESC	embryonic stem cell:	n/a	n/a
47	MYC	chr2:153573417-153575767	MCF10A-Er-Src	breast:	n/a	chr2:153573447-153573457
48	GTF2B	chr2:153574481-153576073	K562	blood:	n/a	n/a
49	YY1	chr2:153574566-153575785	GM12878	blood:	n/a	n/a
50	SP1	chr2:153573499-153575750	A549	lung:	n/a	chr2:153573499-153573509 chr2:153575083-153575092 chr2:153574275-153574289 chr2:153574278-153574290 chr2:153574279-153574288 chr2:153574148-153574162 chr2:153575082-153575091 chr2:153575688-153575702 chr2:153575081-153575093 chr2:153574151-153574165 chr2:153573499-153573508 chr2:153574279-153574289 chr2:153575083-153575092 chr2:153574279-153574289 chr2:153574020-153574031 chr2:153575081-153575093 chr2:153574280-153574289 chr2:153573499-153573508

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:153575717-153575767	A549	lung:	n/a
2	chr2:153575717-153575767	GM12892	blood:	n/a
3	chr2:153575717-153575767	HAEpiC	amniotic membrane:	n/a
4	chr2:153575717-153575767	Hela-S3	cervix:	n/a
5	chr2:153575717-153575767	AoSMC	blood vessel:	n/a
6	chr2:153575717-153575767	NH-A	brain:	n/a
7	chr2:153575717-153575767	HUVEC	blood vessel:	n/a
8	chr2:153575717-153575767	NHBE	bronchial:	n/a
9	chr2:153575717-153575767	HRE	kidney:	n/a
10	chr2:153575717-153575767	PFSK-1	brain:	n/a
11	chr2:153575717-153575767	HEEpiC	esophagus:	n/a
12	chr2:153575717-153575767	Caco-2	colon:	n/a
13	chr2:153575717-153575767	PrEC	prostate:	n/a
14	chr2:153575717-153575767	SK-N-MC	brain:	n/a
15	chr2:153575717-153575767	HepG2	liver:	n/a
16	chr2:153575717-153575767	AG04450	lung:	fetal
17	chr2:153575717-153575767	MCF10A-Er-Src	breast:	n/a
18	chr2:153575717-153575767	HCPEpiC	choroid plexus:	n/a
19	chr2:153575717-153575767	HRCEpiC	kidney:	n/a
20	chr2:153575717-153575767	Jurkat	blood:	n/a
21	chr2:153575717-153575767	H1-hESC	embryonic stem cell:	embryo
22	chr2:153575717-153575767	LNCaP	prostate:	n/a
23	chr2:153575717-153575767	GM12891	blood:	n/a
24	chr2:153575717-153575767	ProgFib	skin:	n/a
25	chr2:153575717-153575767	GM06990	blood:	n/a
26	chr2:153575717-153575767	BJ	skin:	n/a
27	chr2:153575717-153575767	NT2-D1	testis:	n/a
28	chr2:153575717-153575767	GM19239	blood:	n/a
29	chr2:153575717-153575767	HCT-116	colon:	n/a
30	chr2:153575717-153575767	AG09309	skin:	n/a
31	chr2:153575717-153575767	SK-N-SH	brain:	n/a
32	chr2:153575717-153575767	ovcar-3	ovarian:	n/a
33	chr2:153575717-153575767	SK-N-SH_RA	brain:	n/a
34	chr2:153575717-153575767	HMEC	breast:	n/a
35	chr2:153575717-153575767	AG10803	skin:	n/a
36	chr2:153575717-153575767	SAEC	small airway:	n/a
37	chr2:153575717-153575767	T-47D	breast:	n/a
38	chr2:153575717-153575767	HL-60	blood:	n/a
39	chr2:153575717-153575767	SKMC	muscle:	n/a
40	chr2:153575717-153575767	K562	blood:	n/a
41	chr2:153575717-153575767	NHDF-neo	bronchial:	n/a
42	chr2:153575717-153575767	HPAEpiC	pulmonary alveolar:	n/a
43	chr2:153575717-153575767	HCM	heart:	n/a
44	chr2:153575717-153575767	U87	brain:	n/a
45	chr2:153575717-153575767	MCF-7	breast:	n/a
46	chr2:153575717-153575767	Hepatocyte	liver:	n/a
47	chr2:153575717-153575767	HNPCEpiC	eye:	n/a
48	chr2:153575717-153575767	CMK	blood:	n/a
49	chr2:153575717-153575767	HRPEpiC	eye:	n/a
50	chr2:153575717-153575767	HIPEpiC	eye:	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:153572649..153576015-chr2:157196773..157199686,4	K562	blood:
2	chr2:153575398..153576064-chr3:73160028..73160589,2	Hela-S3	cervix:
3	chr2:153030659..153033731-chr2:153574261..153576507,5	MCF-7	breast:
4	chr2:153575606..153576307-chr5:141392107..141392915,2	Hela-S3	cervix:
5	chr2:153575082..153576040-chr7:75676805..75677534,2	Hela-S3	cervix:
6	chr2:153031056..153034207-chr2:153571978..153575897,4	K562	blood:
7	chr15:93352642..93353348-chr2:153575144..153575777,2	Hela-S3	cervix:
8	chr2:153030783..153033861-chr2:153572629..153575835,5	MCF-7	breast:

Variant related genes	Relation type
PRPF40A	TF binding region
ARL6IP6	TF binding region
PRPF40A	CpG island
ARL6IP6	CpG island
ENSG00000115145	Chromatin interaction
ENSG00000146701	Chromatin interaction
ENSG00000113552	Chromatin interaction
ENSG00000223247	Chromatin interaction
ENSG00000153234	Chromatin interaction
ENSG00000185442	Chromatin interaction
ENSG00000127952	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10497113	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10931263	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10931271	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10931279	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11674911	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11676069	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11694512	0.84[ASN][1000 genomes]
rs11901227	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12475871	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12478681	0.84[ASN][1000 genomes]
rs12693429	0.84[ASN][1000 genomes]
rs12989903	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12995388	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12999331	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13003670	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13006652	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13014141	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13017131	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13022436	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13023779	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13023975	0.83[EUR][1000 genomes]
rs1370499	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16831440	0.83[EUR][1000 genomes]
rs16831456	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17328776	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17400456	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17400938	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17400952	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17400980	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2083097	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2346551	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34199006	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34454505	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34469468	0.84[EUR][1000 genomes]
rs34619076	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34775858	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35002744	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35421285	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35754252	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35894330	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35937874	0.92[EUR][1000 genomes]
rs36107565	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36122595	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3811568	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3811569	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4575677	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6434172	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66492085	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs66849546	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6728189	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6736003	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs71417232	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs71417235	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72871148	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7591590	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7598878	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv834421	chr2:153470109-153664235	Strong transcription Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	esv3693438	chr2:153505376-153718246	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 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	chr2:153572000-153576400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:153572000-153576400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr2:153572000-153576400	Active TSS	K562	blood
4	chr2:153572200-153576400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr2:153572200-153576400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr2:153572200-153576400	Active TSS	HMEC	breast
7	chr2:153572200-153576800	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr2:153572200-153577000	Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr2:153572400-153575800	Active TSS	Fetal Brain Female	brain
10	chr2:153572400-153575800	Active TSS	Hela-S3	cervix
11	chr2:153572400-153576000	Active TSS	HSMM	muscle
12	chr2:153572400-153576200	Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr2:153572400-153576200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr2:153572400-153576400	Active TSS	H1 Cell Line	embryonic stem cell
15	chr2:153572400-153576400	Active TSS	iPS-18 Cell Line	embryonic stem cell
16	chr2:153572400-153576400	Active TSS	Fetal Kidney	kidney
17	chr2:153572400-153576400	Active TSS	A549	lung
18	chr2:153572400-153576600	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr2:153572400-153576600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr2:153572400-153576600	Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr2:153572400-153576600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr2:153572400-153576600	Active TSS	NHLF	lung
23	chr2:153572400-153576800	Active TSS	H9 Cell Line	embryonic stem cell
24	chr2:153572400-153576800	Active TSS	Psoas Muscle	Psoas
25	chr2:153572400-153577000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr2:153572400-153577000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr2:153572600-153575800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr2:153572600-153576000	Bivalent/Poised TSS	HepG2	liver
29	chr2:153572600-153576200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
30	chr2:153572600-153576200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr2:153572600-153576200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr2:153572600-153576200	Active TSS	Fetal Muscle Trunk	muscle
33	chr2:153572600-153576200	Active TSS	Right Ventricle	heart
34	chr2:153572600-153576200	Active TSS	HSMMtube	muscle
35	chr2:153572600-153576400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr2:153572600-153576400	Active TSS	HUES64 Cell Line	embryonic stem cell
37	chr2:153572600-153576400	Active TSS	GM12878-XiMat	blood
38	chr2:153572800-153575800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr2:153572800-153575800	Active TSS	Fetal Intestine Small	intestine
40	chr2:153572800-153576000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr2:153572800-153576000	Active TSS	Breast Myoepithelial Primary Cells	Breast
42	chr2:153572800-153576000	Active TSS	Fetal Intestine Large	intestine
43	chr2:153572800-153576200	Active TSS	Fetal Muscle Leg	muscle
44	chr2:153572800-153576400	Active TSS	Fetal Stomach	stomach
45	chr2:153572800-153576400	Active TSS	Fetal Thymus	thymus
46	chr2:153572800-153576400	Active TSS	Ovary	ovary
47	chr2:153572800-153576400	Active TSS	NHDF-Ad	bronchial
48	chr2:153573000-153575800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr2:153573000-153575800	Active TSS	Primary hematopoietic stem cells short term culture	blood
50	chr2:153573000-153575800	Active TSS	Fetal Adrenal Gland	Adrenal Gland

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