Variant report

Variant	rs149560516
Chromosome Location	chr2:10443779-10443780
allele	-/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	POLR2A	chr2:10441852-10444651	Hela-S3	cervix:	n/a	n/a
2	MYC	chr2:10442125-10444016	A549	lung:	n/a	chr2:10443807-10443817 chr2:10443806-10443816 chr2:10443805-10443814 chr2:10443669-10443678 chr2:10443845-10443854 chr2:10443805-10443820
3	SIN3AK20	chr2:10442357-10444464	MCF-7	breast:	n/a	n/a
4	SIN3AK20	chr2:10442578-10444507	SK-N-SH	brain:	n/a	n/a
5	CHD2	chr2:10443439-10444028	GM12878	blood:	n/a	n/a
6	E2F6	chr2:10443513-10444006	K562	blood:	n/a	n/a
7	ZKSCAN1	chr2:10443705-10444426	Hela-S3	cervix:	n/a	n/a
8	HDAC2	chr2:10441303-10443996	HepG2	liver:	n/a	chr2:10443666-10443685
9	RAD21	chr2:10441925-10448398	SK-N-SH	brain:	n/a	chr2:10445901-10445913 chr2:10443150-10443164 chr2:10444235-10444248 chr2:10444579-10444593 chr2:10446784-10446791
10	POLR2A	chr2:10442226-10444098	MCF-7	breast:	n/a	n/a
11	SIN3A	chr2:10442650-10444494	H1-hESC	embryonic stem cell:	n/a	chr2:10443806-10443815 chr2:10443623-10443634 chr2:10442863-10442872 chr2:10443622-10443630
12	MAX	chr2:10440682-10444624	HepG2	liver:	n/a	chr2:10443807-10443817 chr2:10443806-10443816 chr2:10443805-10443814 chr2:10443669-10443678 chr2:10443845-10443854 chr2:10443805-10443820
13	MXI1	chr2:10442433-10444519	GM12878	blood:	n/a	chr2:10443806-10443815 chr2:10443808-10443817
14	MAX	chr2:10443647-10444016	K562	blood:	n/a	chr2:10443807-10443817 chr2:10443806-10443816 chr2:10443805-10443814 chr2:10443669-10443678 chr2:10443845-10443854 chr2:10443805-10443820
15	MAX	chr2:10442591-10444503	Hela-S3	cervix:	n/a	chr2:10443807-10443817 chr2:10443806-10443816 chr2:10443805-10443814 chr2:10443669-10443678 chr2:10443845-10443854 chr2:10443805-10443820
16	MAZ	chr2:10442124-10445257	IMR90	lung:	n/a	chr2:10443807-10443817 chr2:10443806-10443816 chr2:10443805-10443814 chr2:10443669-10443678 chr2:10443845-10443854 chr2:10443805-10443820
17	TBP	chr2:10443754-10443815	K562	blood:	n/a	n/a
18	MXI1	chr2:10442556-10444511	HepG2	liver:	n/a	chr2:10443806-10443815 chr2:10443808-10443817
19	POLR2A	chr2:10443766-10444191	PANC-1	pancreas:	n/a	n/a
20	MAX	chr2:10443384-10444437	SK-N-SH	brain:	n/a	chr2:10443807-10443817 chr2:10443806-10443816 chr2:10443805-10443814 chr2:10443669-10443678 chr2:10443845-10443854 chr2:10443805-10443820
21	MYC	chr2:10442308-10443894	K562	blood:	n/a	chr2:10443807-10443817 chr2:10443806-10443816 chr2:10443805-10443814 chr2:10443669-10443678 chr2:10443845-10443854 chr2:10443805-10443820
22	MAX	chr2:10442305-10444096	ECC-1	luminal epithelium:	n/a	chr2:10443807-10443817 chr2:10443806-10443816 chr2:10443805-10443814 chr2:10443669-10443678 chr2:10443845-10443854 chr2:10443805-10443820
23	TAF1	chr2:10442122-10444001	HepG2	liver:	n/a	n/a
24	POLR2A	chr2:10441016-10443943	HepG2	liver:	n/a	n/a
25	MAX	chr2:10442036-10444467	MCF-7	breast:	n/a	chr2:10443807-10443817 chr2:10443806-10443816 chr2:10443805-10443814 chr2:10443669-10443678 chr2:10443845-10443854 chr2:10443805-10443820
26	POLR2A	chr2:10442595-10443825	Hela-S3	cervix:	n/a	n/a
27	BHLHE40	chr2:10443649-10444447	GM12878	blood:	n/a	n/a
28	MAX	chr2:10442500-10444091	K562	blood:	n/a	chr2:10443807-10443817 chr2:10443806-10443816 chr2:10443805-10443814 chr2:10443669-10443678 chr2:10443845-10443854 chr2:10443805-10443820
29	MAX	chr2:10443459-10443882	A549	lung:	n/a	chr2:10443807-10443817 chr2:10443806-10443816 chr2:10443805-10443814 chr2:10443669-10443678 chr2:10443845-10443854 chr2:10443805-10443820
30	SIN3AK20	chr2:10442915-10443804	K562	blood:	n/a	n/a
31	BHLHE40	chr2:10443715-10443866	K562	blood:	n/a	n/a
32	MAZ	chr2:10442267-10444414	GM12878	blood:	n/a	chr2:10443807-10443817 chr2:10443806-10443816 chr2:10443805-10443814 chr2:10443669-10443678 chr2:10443845-10443854 chr2:10443805-10443820
33	MAX	chr2:10441745-10444932	A549	lung:	n/a	chr2:10443807-10443817 chr2:10443806-10443816 chr2:10443805-10443814 chr2:10443669-10443678 chr2:10443845-10443854 chr2:10443805-10443820
34	POLR2A	chr2:10443729-10444416	U87	brain:	n/a	n/a
35	USF1	chr2:10443683-10443900	SK-N-SH_RA	brain:	n/a	n/a
36	RAD21	chr2:10442418-10443804	A549	lung:	n/a	chr2:10443150-10443164
37	MAX	chr2:10442244-10444508	K562	blood:	n/a	chr2:10443807-10443817 chr2:10443806-10443816 chr2:10443805-10443814 chr2:10443669-10443678 chr2:10443845-10443854 chr2:10443805-10443820
38	USF1	chr2:10443584-10443945	SK-N-SH_RA	brain:	n/a	n/a
39	ZBTB7A	chr2:10443211-10443887	ECC-1	luminal epithelium:	n/a	chr2:10443310-10443317
40	MXI1	chr2:10441040-10446748	SK-N-SH	brain:	n/a	chr2:10443806-10443815 chr2:10443808-10443817 chr2:10441998-10442013
41	CCNT2	chr2:10442504-10444532	K562	blood:	n/a	chr2:10442588-10442597 chr2:10442568-10442577 chr2:10444311-10444320 chr2:10442574-10442583
42	UBTF	chr2:10442607-10444378	K562	blood:	n/a	n/a
43	POLR2A	chr2:10443723-10444484	U87	brain:	n/a	n/a
44	HMGN3	chr2:10442475-10444471	K562	blood:	n/a	n/a
45	MAX	chr2:10440984-10445011	HepG2	liver:	n/a	chr2:10443807-10443817 chr2:10443806-10443816 chr2:10443805-10443814 chr2:10443669-10443678 chr2:10443845-10443854 chr2:10443805-10443820
46	POLR2A	chr2:10442923-10444436	H1-neurons	neurons:	n/a	n/a
47	MAZ	chr2:10442223-10444394	K562	blood:	n/a	chr2:10443807-10443817 chr2:10443806-10443816 chr2:10443805-10443814 chr2:10443669-10443678 chr2:10443845-10443854 chr2:10443805-10443820
48	EBF1	chr2:10443708-10444333	GM12878	blood:	n/a	chr2:10443994-10444005
49	REST	chr2:10442674-10443815	H1-neurons	neurons:	n/a	chr2:10443685-10443703 chr2:10443687-10443700 chr2:10443633-10443646 chr2:10443770-10443783 chr2:10443593-10443606 chr2:10442862-10442872 chr2:10443665-10443685
50	CTCF	chr2:10442037-10444954	A549	lung:	n/a	chr2:10444547-10444556 chr2:10442232-10442241 chr2:10444236-10444249 chr2:10442477-10442485 chr2:10443153-10443166

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:10443745-10443795	HNPCEpiC	eye:	n/a
2	chr2:10443745-10443795	NT2-D1	testis:	n/a
3	chr2:10443745-10443795	HAEpiC	amniotic membrane:	n/a
4	chr2:10443758-10443808	HCT-116	colon:	n/a
5	chr2:10443745-10443795	MCF-7	breast:	n/a
6	chr2:10443745-10443795	HMEC	breast:	n/a
7	chr2:10443745-10443795	HRE	kidney:	n/a
8	chr2:10443745-10443795	U87	brain:	n/a
9	chr2:10443758-10443808	GM12891	blood:	n/a
10	chr2:10443745-10443795	Caco-2	colon:	n/a
11	chr2:10443758-10443808	NHBE	bronchial:	n/a
12	chr2:10443745-10443795	K562	blood:	n/a
13	chr2:10443758-10443808	HAEpiC	amniotic membrane:	n/a
14	chr2:10443745-10443795	Hepatocyte	liver:	n/a
15	chr2:10443745-10443795	GM19239	blood:	n/a
16	chr2:10443745-10443795	AoSMC	blood vessel:	n/a
17	chr2:10443758-10443808	GM06990	blood:	n/a
18	chr2:10443745-10443795	Jurkat	blood:	n/a
19	chr2:10443758-10443808	HRPEpiC	eye:	n/a
20	chr2:10443745-10443795	HCF	heart:	n/a
21	chr2:10443758-10443808	LNCaP	prostate:	n/a
22	chr2:10443758-10443808	PFSK-1	brain:	n/a
23	chr2:10443758-10443808	GM12892	blood:	n/a
24	chr2:10443758-10443808	Jurkat	blood:	n/a
25	chr2:10443758-10443808	HIPEpiC	eye:	n/a
26	chr2:10443758-10443808	ECC-1	luminal epithelium:	n/a
27	chr2:10443758-10443808	HNPCEpiC	eye:	n/a
28	chr2:10443758-10443808	HUVEC	blood vessel:	n/a
29	chr2:10443758-10443808	NH-A	brain:	n/a
30	chr2:10443745-10443795	IMR90	lung:	fetal
31	chr2:10443758-10443808	K562	blood:	n/a
32	chr2:10443745-10443795	GM12892	blood:	n/a
33	chr2:10443758-10443808	SKMC	muscle:	n/a
34	chr2:10443745-10443795	HIPEpiC	eye:	n/a
35	chr2:10443745-10443795	PANC-1	pancreas:	n/a
36	chr2:10443758-10443808	HPAEpiC	pulmonary alveolar:	n/a
37	chr2:10443758-10443808	MCF-7	breast:	n/a
38	chr2:10443745-10443795	Hela-S3	cervix:	n/a
39	chr2:10443745-10443795	CMK	blood:	n/a
40	chr2:10443745-10443795	HepG2	liver:	n/a
41	chr2:10443745-10443795	HRCEpiC	kidney:	n/a
42	chr2:10443745-10443795	H1-hESC	embryonic stem cell:	embryo
43	chr2:10443758-10443808	AG09309	skin:	n/a
44	chr2:10443758-10443808	MCF10A-Er-Src	breast:	n/a
45	chr2:10443758-10443808	HRE	kidney:	n/a
46	chr2:10443758-10443808	GM12878	blood:	n/a
47	chr2:10443758-10443808	NT2-D1	testis:	n/a
48	chr2:10443758-10443808	HL-60	blood:	n/a
49	chr2:10443758-10443808	HEEpiC	esophagus:	n/a
50	chr2:10443745-10443795	ECC-1	luminal epithelium:	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:10259191..10262555-chr2:10441232..10444497,4	K562	blood:
2	chr2:10417267..10421526-chr2:10440124..10444517,8	K562	blood:
3	chr2:10434745..10440361-chr2:10440769..10446494,13	MCF-7	breast:
4	chr2:10259183..10262149-chr2:10441411..10444855,4	MCF-7	breast:
5	chr2:10441623..10444200-chr2:10586906..10588748,2	K562	blood:
6	chr2:10261047..10264754-chr2:10441936..10445688,4	MCF-7	breast:
7	chr2:10441623..10444177-chr2:10587166..10588748,2	K562	blood:
8	chr2:10265405..10268289-chr2:10440877..10444021,3	K562	blood:

Variant related genes	Relation type
HPCAL1	TF binding region
HPCAL1	CpG island
ENSG00000206898	Chromatin interaction
ENSG00000272524	Chromatin interaction
ENSG00000264030	Chromatin interaction
ENSG00000206633	Chromatin interaction
ENSG00000171848	Chromatin interaction
ENSG00000115758	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530829	chr2:10357105-10655131	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
2	nsv873639	chr2:10372061-10475308	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	esv3356298	chr2:10441526-10444374	Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
4	esv3367929	chr2:10441951-10444149	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
5	esv10180	chr2:10442471-10443799	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 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	chr2:10441600-10444800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr2:10441800-10443800	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr2:10441800-10445600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr2:10442000-10444000	Active TSS	Liver	Liver
5	chr2:10442200-10443800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr2:10442200-10443800	Active TSS	Fetal Brain Female	brain
7	chr2:10442200-10444000	Active TSS	Brain Angular Gyrus	brain
8	chr2:10442200-10444200	Active TSS	Psoas Muscle	Psoas
9	chr2:10442200-10444400	Active TSS	Brain Substantia Nigra	brain
10	chr2:10442200-10445000	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr2:10442200-10445000	Active TSS	Osteobl	bone
12	chr2:10442200-10446000	Active TSS	Duodenum Smooth Muscle	Duodenum
13	chr2:10442200-10446000	Active TSS	HSMMtube	muscle
14	chr2:10442400-10443800	Active TSS	Rectal Mucosa Donor 29	rectum
15	chr2:10442400-10443800	Active TSS	Right Ventricle	heart
16	chr2:10442400-10444000	Active TSS	Brain Anterior Caudate	brain
17	chr2:10442400-10444200	Active TSS	Thymus	Thymus
18	chr2:10442400-10444400	Active TSS	Colon Smooth Muscle	Colon
19	chr2:10442400-10444400	Active TSS	Esophagus	oesophagus
20	chr2:10442400-10444400	Active TSS	Ovary	ovary
21	chr2:10442400-10444400	Active TSS	A549	lung
22	chr2:10442400-10444600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
23	chr2:10442400-10444600	Active TSS	Primary T helper naive cells from peripheral blood	blood
24	chr2:10442400-10444600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
25	chr2:10442400-10444600	Active TSS	Muscle Satellite Cultured Cells	--
26	chr2:10442400-10444600	Active TSS	Aorta	Aorta
27	chr2:10442400-10444600	Active TSS	Duodenum Mucosa	Duodenum
28	chr2:10442400-10444600	Active TSS	Fetal Lung	lung
29	chr2:10442400-10444600	Active TSS	Small Intestine	intestine
30	chr2:10442400-10444600	Active TSS	Hela-S3	cervix
31	chr2:10442400-10444600	Active TSS	HSMM	muscle
32	chr2:10442400-10445000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr2:10442400-10445200	Active TSS	Left Ventricle	heart
34	chr2:10442400-10445600	Active TSS	Right Atrium	heart
35	chr2:10442600-10443800	Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr2:10442600-10443800	Active TSS	Primary B cells from peripheral blood	blood
37	chr2:10442600-10443800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
38	chr2:10442600-10443800	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
39	chr2:10442600-10443800	Active TSS	NH-A	brain
40	chr2:10442600-10443800	Active TSS	NHLF	lung
41	chr2:10442600-10444000	Active TSS	Primary neutrophils fromperipheralblood	blood
42	chr2:10442600-10444000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr2:10442600-10444200	Active TSS	Primary T helper cells fromperipheralblood	blood
44	chr2:10442600-10444200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr2:10442600-10444400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr2:10442600-10444400	Active TSS	Primary T cells fromperipheralblood	blood
47	chr2:10442600-10444400	Active TSS	NHEK	skin
48	chr2:10442600-10444600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
49	chr2:10442600-10444600	Active TSS	Primary T helper cells PMA-I stimulated	--
50	chr2:10442600-10444800	Active TSS	Fetal Intestine Small	intestine

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