Variant report

Variant	rs4143146
Chromosome Location	chr2:73339430-73339431
allele	G/T
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	ZNF143	chr2:73338927-73339908	H1-hESC	embryonic stem cell:	n/a	n/a
2	MXI1	chr2:73339026-73339599	H1-hESC	embryonic stem cell:	n/a	n/a
3	E2F6	chr2:73339292-73340802	K562	blood:	n/a	chr2:73339495-73339503 chr2:73340674-73340683 chr2:73340621-73340631 chr2:73339458-73339467
4	MAX	chr2:73338571-73340886	K562	blood:	n/a	chr2:73340580-73340589 chr2:73340579-73340590 chr2:73340580-73340589
5	MAZ	chr2:73337286-73342118	IMR90	lung:	n/a	chr2:73340580-73340589 chr2:73340579-73340590 chr2:73337639-73337648 chr2:73340580-73340589
6	SMARCB1	chr2:73338108-73340874	Hela-S3	cervix:	n/a	n/a
7	CTCF	chr2:73339400-73339550	HCFaa	heart:	n/a	n/a
8	RCOR1	chr2:73339317-73340882	K562	blood:	n/a	n/a
9	ZBTB7A	chr2:73339209-73339673	K562	blood:	n/a	chr2:73339459-73339468
10	CHD2	chr2:73338739-73339537	Hela-S3	cervix:	n/a	n/a
11	MXI1	chr2:73338627-73339712	Hela-S3	cervix:	n/a	n/a
12	CTCF	chr2:73339420-73339570	GM12874	blood:	n/a	n/a
13	CTBP2	chr2:73338937-73339750	H1-hESC	embryonic stem cell:	n/a	n/a
14	E2F6	chr2:73339340-73339679	K562	blood:	n/a	chr2:73339495-73339503 chr2:73339458-73339467
15	POLR2A	chr2:73338506-73340908	Hela-S3	cervix:	n/a	n/a
16	MAX	chr2:73338533-73341015	HepG2	liver:	n/a	chr2:73340580-73340589 chr2:73340579-73340590 chr2:73340580-73340589
17	CTCF	chr2:73339400-73339550	AG04449	skin:	n/a	n/a
18	MXI1	chr2:73337661-73341153	IMR90	lung:	n/a	chr2:73340581-73340590
19	MAX	chr2:73338310-73340969	HepG2	liver:	n/a	chr2:73340580-73340589 chr2:73340579-73340590 chr2:73340580-73340589
20	CTCF	chr2:73339280-73339430	SAEC	small airway:	n/a	n/a
21	POLR2A	chr2:73338786-73340948	MCF10A-Er-Src	breast:	n/a	n/a
22	MXI1	chr2:73339349-73340868	HepG2	liver:	n/a	chr2:73340581-73340590
23	MYC	chr2:73338641-73339881	MCF10A-Er-Src	breast:	n/a	n/a
24	MAX	chr2:73339163-73339831	SK-N-SH	brain:	n/a	n/a
25	CTCF	chr2:73339420-73339570	HUVEC	blood vessel:	n/a	n/a
26	E2F6	chr2:73338916-73339752	H1-hESC	embryonic stem cell:	n/a	chr2:73339495-73339503 chr2:73339458-73339467
27	MAZ	chr2:73338483-73339701	Hela-S3	cervix:	n/a	n/a
28	CTCF	chr2:73339400-73339550	SK-N-SH_RA	brain:	n/a	n/a
29	HDAC2	chr2:73339191-73340052	HepG2	liver:	n/a	n/a
30	POLR2A	chr2:73339361-73339720	K562	blood:	n/a	n/a
31	CREB1	chr2:73339340-73340778	A549	lung:	n/a	n/a
32	MAX	chr2:73338342-73341046	HCT-116	colon:	n/a	chr2:73340580-73340589 chr2:73340579-73340590 chr2:73340580-73340589
33	ZBTB7A	chr2:73339204-73339584	HepG2	liver:	n/a	chr2:73339459-73339468
34	MAX	chr2:73338801-73340872	H1-hESC	embryonic stem cell:	n/a	chr2:73340580-73340589 chr2:73340579-73340590 chr2:73340580-73340589
35	ZBTB7A	chr2:73339186-73340933	ECC-1	luminal epithelium:	n/a	chr2:73339459-73339468 chr2:73340215-73340222
36	MAX	chr2:73338845-73339861	H1-hESC	embryonic stem cell:	n/a	n/a
37	MAX	chr2:73339204-73339671	K562	blood:	n/a	n/a
38	MAX	chr2:73338590-73339954	MCF-7	breast:	n/a	n/a
39	CREB1	chr2:73338062-73340963	HepG2	liver:	n/a	n/a
40	POLR2A	chr2:73339336-73340489	H1-neurons	neurons:	n/a	n/a
41	MAX	chr2:73338850-73339537	H1-hESC	embryonic stem cell:	n/a	n/a
42	UBTF	chr2:73338443-73340834	K562	blood:	n/a	n/a
43	MAX	chr2:73338515-73341035	A549	lung:	n/a	chr2:73340580-73340589 chr2:73340579-73340590 chr2:73340580-73340589
44	POLR2A	chr2:73339406-73340760	A549	lung:	n/a	n/a
45	MAX	chr2:73338623-73340897	A549	lung:	n/a	chr2:73340580-73340589 chr2:73340579-73340590 chr2:73340580-73340589
46	TAF1	chr2:73339354-73340735	HepG2	liver:	n/a	n/a
47	SIN3A	chr2:73338480-73340759	H1-hESC	embryonic stem cell:	n/a	chr2:73338958-73338969 chr2:73339396-73339410
48	TCF12	chr2:73337954-73339898	A549	lung:	n/a	chr2:73339022-73339029
49	CTCF	chr2:73339400-73339550	GM12874	blood:	n/a	n/a
50	POLR2A	chr2:73339372-73340451	H1-neurons	neurons:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:73339389-73339439	NHBE	bronchial:	n/a
2	chr2:73339389-73339439	GM06990	blood:	n/a
3	chr2:73339389-73339439	PrEC	prostate:	n/a
4	chr2:73339389-73339439	HCM	heart:	n/a
5	chr2:73339389-73339439	HPAEpiC	pulmonary alveolar:	n/a
6	chr2:73339389-73339439	AG10803	skin:	n/a
7	chr2:73339389-73339439	HepG2	liver:	n/a
8	chr2:73339389-73339439	HUVEC	blood vessel:	n/a
9	chr2:73339389-73339439	IMR90	lung:	fetal
10	chr2:73339389-73339439	Hela-S3	cervix:	n/a
11	chr2:73339389-73339439	HRE	kidney:	n/a
12	chr2:73339389-73339439	AG04450	lung:	fetal
13	chr2:73339389-73339439	ECC-1	luminal epithelium:	n/a
14	chr2:73339389-73339439	H1-hESC	embryonic stem cell:	embryo
15	chr2:73339389-73339439	AoSMC	blood vessel:	n/a
16	chr2:73339389-73339439	SK-N-SH	brain:	n/a
17	chr2:73339389-73339439	NH-A	brain:	n/a
18	chr2:73339389-73339439	HAEpiC	amniotic membrane:	n/a
19	chr2:73339389-73339439	PFSK-1	brain:	n/a
20	chr2:73339389-73339439	SAEC	small airway:	n/a
21	chr2:73339389-73339439	AG04449	skin:	fetal
22	chr2:73339389-73339439	HCT-116	colon:	n/a
23	chr2:73339389-73339439	NB4	blood:	n/a
24	chr2:73339389-73339439	Jurkat	blood:	n/a
25	chr2:73339389-73339439	BE2_C	brain:	n/a
26	chr2:73339389-73339439	RPTEC	kidney:	n/a
27	chr2:73339389-73339439	HNPCEpiC	eye:	n/a
28	chr2:73339389-73339439	HRPEpiC	eye:	n/a
29	chr2:73339389-73339439	LNCaP	prostate:	n/a
30	chr2:73339389-73339439	BJ	skin:	n/a
31	chr2:73339389-73339439	SK-N-SH_RA	brain:	n/a
32	chr2:73339389-73339439	AG09319	gingival:	n/a
33	chr2:73339389-73339439	Caco-2	colon:	n/a
34	chr2:73339389-73339439	GM12878	blood:	n/a
35	chr2:73339389-73339439	A549	lung:	n/a
36	chr2:73339389-73339439	GM19239	blood:	n/a
37	chr2:73339389-73339439	SKMC	muscle:	n/a
38	chr2:73339389-73339439	ProgFib	skin:	n/a
39	chr2:73339389-73339439	AG09309	skin:	n/a
40	chr2:73339389-73339439	NT2-D1	testis:	n/a
41	chr2:73339389-73339439	GM12891	blood:	n/a
42	chr2:73339389-73339439	U87	brain:	n/a
43	chr2:73339389-73339439	SK-N-MC	brain:	n/a
44	chr2:73339389-73339439	T-47D	breast:	n/a
45	chr2:73339389-73339439	Hepatocyte	liver:	n/a
46	chr2:73339389-73339439	HMEC	breast:	n/a
47	chr2:73339389-73339439	HRCEpiC	kidney:	n/a
48	chr2:73339389-73339439	MCF-7	breast:	n/a
49	chr2:73339389-73339439	HEK293	kidney:	embryo
50	chr2:73339389-73339439	HEEpiC	esophagus:	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:73297299..73299304-chr2:73339003..73341312,3	MCF-7	breast:
2	chr2:73337867..73339816-chr2:73350346..73352327,2	K562	blood:
3	chr2:73296300..73298115-chr2:73338664..73340371,2	K562	blood:
4	chr2:73336661..73339816-chr2:73350346..73353019,4	K562	blood:
5	chr2:73338342..73340040-chr2:73341941..73344372,2	MCF-7	breast:
6	chr2:73339424..73339924-chr7:148987693..148988217,2	NB4	blood:

Variant related genes	Relation type
ENSG00000272702	TF binding region
ENSG00000272702	CpG island
ENSG00000144040	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17348624	0.86[CHB][hapmap];0.96[CHD][hapmap];0.93[JPT][hapmap];1.00[ASN][1000 genomes]
rs17348638	0.86[CHB][hapmap];0.96[CHD][hapmap];0.93[JPT][hapmap];0.97[ASN][1000 genomes]
rs17433172	0.86[CHB][hapmap];0.96[CHD][hapmap];0.93[JPT][hapmap];1.00[ASN][1000 genomes]
rs17504663	0.87[JPT][hapmap]
rs17511570	0.86[CHB][hapmap];0.93[JPT][hapmap];0.95[ASN][1000 genomes]
rs17570040	0.81[JPT][hapmap]
rs17570432	0.87[JPT][hapmap];0.83[ASN][1000 genomes]
rs2060001	0.88[CEU][hapmap];0.90[EUR][1000 genomes]
rs55633543	0.99[ASN][1000 genomes]
rs55768189	0.96[ASN][1000 genomes]
rs55854246	0.99[ASN][1000 genomes]
rs55881165	0.89[ASN][1000 genomes]
rs55938508	1.00[ASN][1000 genomes]
rs56026282	1.00[ASN][1000 genomes]
rs56088054	0.94[ASN][1000 genomes]
rs56214999	0.99[ASN][1000 genomes]
rs56280862	0.99[ASN][1000 genomes]
rs57522927	0.95[ASN][1000 genomes]
rs57868938	0.96[ASN][1000 genomes]
rs6706065	0.87[ASN][1000 genomes]
rs73943036	0.83[ASN][1000 genomes]
rs73943408	1.00[ASN][1000 genomes]
rs73943410	0.91[ASN][1000 genomes]
rs73945731	0.89[ASN][1000 genomes]
rs73945733	0.92[ASN][1000 genomes]
rs73945734	0.94[ASN][1000 genomes]
rs73945735	0.84[ASN][1000 genomes]
rs73945740	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002295	chr2:73216155-73350391	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv1006801	chr2:73305056-73431711	Weak transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv3329435	chr2:73338669-73341217	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr2:73337200-73340000	Flanking Active TSS	Stomach Smooth Muscle	stomach
2	chr2:73337800-73339600	Flanking Active TSS	Placenta	Placenta
3	chr2:73337800-73339600	Flanking Active TSS	HUVEC	blood vessel
4	chr2:73337800-73340000	Flanking Active TSS	Colonic Mucosa	Colon
5	chr2:73338000-73339600	Flanking Active TSS	Duodenum Mucosa	Duodenum
6	chr2:73338000-73339600	Flanking Active TSS	Fetal Intestine Large	intestine
7	chr2:73338000-73339600	Flanking Active TSS	Fetal Intestine Small	intestine
8	chr2:73338000-73339600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
9	chr2:73338000-73340800	Active TSS	Aorta	Aorta
10	chr2:73338000-73341200	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr2:73338200-73339800	Flanking Active TSS	Adipose Nuclei	Adipose
12	chr2:73338200-73339800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
13	chr2:73338200-73339800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
14	chr2:73338200-73340800	Active TSS	Gastric	stomach
15	chr2:73338200-73341000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr2:73338200-73341000	Active TSS	HSMM	muscle
17	chr2:73338400-73339600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
18	chr2:73338400-73339600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
19	chr2:73338400-73339600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
20	chr2:73338400-73339600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
21	chr2:73338400-73339600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
22	chr2:73338400-73339800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr2:73338400-73339800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr2:73338400-73339800	Flanking Active TSS	Liver	Liver
25	chr2:73338400-73340000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
26	chr2:73338400-73340800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr2:73338400-73341200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr2:73338600-73339600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
29	chr2:73338600-73339600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr2:73338600-73339600	Flanking Bivalent TSS/Enh	HepG2	liver
31	chr2:73338600-73339800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
32	chr2:73338600-73339800	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
33	chr2:73338600-73339800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr2:73338600-73340000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr2:73338600-73340400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
36	chr2:73338600-73340600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr2:73338600-73340800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr2:73338600-73340800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr2:73338600-73340800	Active TSS	HUES6 Cell Line	embryonic stem cell
40	chr2:73338600-73340800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr2:73338600-73340800	Active TSS	Esophagus	oesophagus
42	chr2:73338600-73340800	Active TSS	Left Ventricle	heart
43	chr2:73338600-73340800	Active TSS	Placenta Amnion	Placenta Amnion
44	chr2:73338600-73340800	Active TSS	Right Atrium	heart
45	chr2:73338600-73340800	Active TSS	Hela-S3	cervix
46	chr2:73338600-73340800	Active TSS	NHDF-Ad	bronchial
47	chr2:73338600-73340800	Active TSS	NHEK	skin
48	chr2:73338600-73340800	Active TSS	NHLF	lung
49	chr2:73338600-73341000	Active TSS	ES-I3 Cell Line	embryonic stem cell
50	chr2:73338600-73341000	Active TSS	H9 Cell Line	embryonic stem cell

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