Variant report

Variant	rs61819222
Chromosome Location	chr1:151119532-151119533
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:92)
CpG islands
(count:122)
Chromatin interactive
region (count:14)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:92 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:151118853-151119581	PANC-1	pancreas:	n/a	n/a
2	YY1	chr1:151118824-151119571	HepG2	liver:	n/a	chr1:151118841-151118855 chr1:151118841-151118852 chr1:151119498-151119509 chr1:151118838-151118852 chr1:151118876-151118887
3	TEAD4	chr1:151118844-151119731	K562	blood:	n/a	n/a
4	TAF1	chr1:151118917-151119613	ECC-1	luminal epithelium:	n/a	n/a
5	TAF1	chr1:151118875-151119555	H1-hESC	embryonic stem cell:	n/a	n/a
6	MAZ	chr1:151118814-151119906	K562	blood:	n/a	chr1:151119713-151119722 chr1:151118955-151118965 chr1:151118956-151118965
7	TAF1	chr1:151118885-151119550	H1-neurons	neurons:	n/a	n/a
8	MAX	chr1:151118622-151119946	MCF-7	breast:	n/a	chr1:151119713-151119722 chr1:151118955-151118965 chr1:151118956-151118965
9	SIN3A	chr1:151118139-151119889	H1-hESC	embryonic stem cell:	n/a	chr1:151119498-151119511
10	POLR2A	chr1:151118551-151120473	HepG2	liver:	n/a	n/a
11	SIN3AK20	chr1:151118902-151119670	PANC-1	pancreas:	n/a	n/a
12	POLR2A	chr1:151118794-151119692	HUVEC	blood vessel:	n/a	n/a
13	POLR2A	chr1:151118875-151119539	ECC-1	luminal epithelium:	n/a	n/a
14	RCOR1	chr1:151118945-151119734	K562	blood:	n/a	n/a
15	SIN3AK20	chr1:151118802-151119547	SK-N-SH	brain:	n/a	n/a
16	REST	chr1:151117516-151120216	H1-neurons	neurons:	n/a	chr1:151119045-151119055 chr1:151117927-151117947
17	POLR2A	chr1:151118814-151119695	HUVEC	blood vessel:	n/a	n/a
18	CCNT2	chr1:151118911-151119630	K562	blood:	n/a	n/a
19	MAX	chr1:151118912-151119732	HepG2	liver:	n/a	chr1:151119713-151119722 chr1:151118955-151118965 chr1:151118956-151118965
20	NFYB	chr1:151119080-151119633	K562	blood:	n/a	n/a
21	POLR2A	chr1:151118909-151119555	PANC-1	pancreas:	n/a	n/a
22	POLR2A	chr1:151118879-151119556	HEK293	kidney:	n/a	n/a
23	POLR2A	chr1:151118910-151119541	K562	blood:	n/a	n/a
24	ZNF263	chr1:151119023-151119922	K562	blood:	n/a	chr1:151119781-151119790
25	POLR2A	chr1:151118834-151119568	HepG2	liver:	n/a	n/a
26	MAX	chr1:151119335-151119602	GM12878	blood:	n/a	n/a
27	CHD2	chr1:151118932-151119670	HepG2	liver:	n/a	n/a
28	MAX	chr1:151118369-151119793	A549	lung:	n/a	chr1:151119713-151119722 chr1:151118955-151118965 chr1:151118956-151118965
29	POLR2A	chr1:151118884-151119539	HepG2	liver:	n/a	n/a
30	CHD2	chr1:151119091-151119601	GM12878	blood:	n/a	n/a
31	MXI1	chr1:151118155-151120020	SK-N-SH	brain:	n/a	n/a
32	POLR2A	chr1:151118714-151119751	H1-hESC	embryonic stem cell:	n/a	n/a
33	MAZ	chr1:151118150-151119997	IMR90	lung:	n/a	chr1:151119713-151119722 chr1:151118955-151118965 chr1:151118956-151118965
34	SIN3AK20	chr1:151118580-151119647	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr1:151118902-151119543	HepG2	liver:	n/a	n/a
36	POLR2A	chr1:151118943-151119623	MCF-7	breast:	n/a	n/a
37	POLR2A	chr1:151118858-151119995	HUVEC	blood vessel:	n/a	n/a
38	POLR2A	chr1:151118889-151119587	U87	brain:	n/a	n/a
39	E2F6	chr1:151118724-151119555	A549	lung:	n/a	chr1:151119269-151119279 chr1:151118868-151118877 chr1:151119143-151119152 chr1:151118840-151118849
40	POLR2A	chr1:151118929-151119591	GM12892	blood:	n/a	n/a
41	MAX	chr1:151118808-151119753	K562	blood:	n/a	chr1:151119713-151119722 chr1:151118955-151118965 chr1:151118956-151118965
42	MAFK	chr1:151119323-151119612	K562	blood:	n/a	n/a
43	TAF1	chr1:151118756-151119676	HepG2	liver:	n/a	n/a
44	POLR2A	chr1:151118856-151119559	HepG2	liver:	n/a	n/a
45	MXI1	chr1:151118187-151120005	IMR90	lung:	n/a	n/a
46	MAX	chr1:151118327-151119735	SK-N-SH	brain:	n/a	chr1:151119713-151119722 chr1:151118955-151118965 chr1:151118956-151118965
47	MAZ	chr1:151118698-151119711	HepG2	liver:	n/a	chr1:151118955-151118965 chr1:151118956-151118965
48	POLR2A	chr1:151118710-151119715	SK-N-MC	brain:	n/a	n/a
49	MXI1	chr1:151118908-151119937	HepG2	liver:	n/a	n/a
50	MXI1	chr1:151119482-151119662	H1-hESC	embryonic stem cell:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:151119527-151119577	SAEC	small airway:	n/a
2	chr1:151119525-151119575	NH-A	brain:	n/a
3	chr1:151119525-151119575	Hepatocyte	liver:	n/a
4	chr1:151119527-151119577	CMK	blood:	n/a
5	chr1:151119527-151119577	H1-hESC	embryonic stem cell:	embryo
6	chr1:151119525-151119575	HMEC	breast:	n/a
7	chr1:151119527-151119577	AG09309	skin:	n/a
8	chr1:151119525-151119575	HepG2	liver:	n/a
9	chr1:151119527-151119577	T-47D	breast:	n/a
10	chr1:151119527-151119577	GM12891	blood:	n/a
11	chr1:151119525-151119575	BJ	skin:	n/a
12	chr1:151119527-151119577	SK-N-SH_RA	brain:	n/a
13	chr1:151119527-151119577	HRCEpiC	kidney:	n/a
14	chr1:151119527-151119577	HL-60	blood:	n/a
15	chr1:151119525-151119575	HCM	heart:	n/a
16	chr1:151119527-151119577	SK-N-SH	brain:	n/a
17	chr1:151119525-151119575	HEEpiC	esophagus:	n/a
18	chr1:151119525-151119575	Caco-2	colon:	n/a
19	chr1:151119527-151119577	HMEC	breast:	n/a
20	chr1:151119525-151119575	T-47D	breast:	n/a
21	chr1:151119525-151119575	NHDF-neo	bronchial:	n/a
22	chr1:151119525-151119575	GM06990	blood:	n/a
23	chr1:151119527-151119577	GM06990	blood:	n/a
24	chr1:151119525-151119575	PFSK-1	brain:	n/a
25	chr1:151119525-151119575	AG09319	gingival:	n/a
26	chr1:151119527-151119577	HCPEpiC	choroid plexus:	n/a
27	chr1:151119527-151119577	RPTEC	kidney:	n/a
28	chr1:151119525-151119575	AoSMC	blood vessel:	n/a
29	chr1:151119525-151119575	ProgFib	skin:	n/a
30	chr1:151119527-151119577	HNPCEpiC	eye:	n/a
31	chr1:151119525-151119575	SAEC	small airway:	n/a
32	chr1:151119525-151119575	IMR90	lung:	fetal
33	chr1:151119525-151119575	HRCEpiC	kidney:	n/a
34	chr1:151119527-151119577	Jurkat	blood:	n/a
35	chr1:151119527-151119577	HepG2	liver:	n/a
36	chr1:151119525-151119575	MCF-7	breast:	n/a
37	chr1:151119525-151119575	H1-hESC	embryonic stem cell:	embryo
38	chr1:151119525-151119575	AG04449	skin:	fetal
39	chr1:151119527-151119577	ProgFib	skin:	n/a
40	chr1:151119527-151119577	PANC-1	pancreas:	n/a
41	chr1:151119527-151119577	LNCaP	prostate:	n/a
42	chr1:151119525-151119575	GM12892	blood:	n/a
43	chr1:151119527-151119577	PrEC	prostate:	n/a
44	chr1:151119527-151119577	HCM	heart:	n/a
45	chr1:151119527-151119577	Hela-S3	cervix:	n/a
46	chr1:151119525-151119575	HPAEpiC	pulmonary alveolar:	n/a
47	chr1:151119525-151119575	ovcar-3	ovarian:	n/a
48	chr1:151119527-151119577	SK-N-MC	brain:	n/a
49	chr1:151119527-151119577	HRPEpiC	eye:	n/a
50	chr1:151119527-151119577	K562	blood:	n/a

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:151103786..151106331-chr1:151117499..151120768,3	MCF-7	breast:
2	chr1:150979021..150981360-chr1:151118629..151120745,2	K562	blood:
3	chr1:151032665..151034303-chr1:151119415..151121131,2	MCF-7	breast:
4	chr1:151102270..151104122-chr1:151117546..151119575,3	K562	blood:
5	chr1:151114895..151122057-chr1:151125026..151130825,9	MCF-7	breast:
6	chr1:151042933..151043519-chr1:151119223..151119791,2	MCF-7	breast:
7	chr1:151117604..151120749-chr1:151128246..151131666,4	MCF-7	breast:
8	chr1:151117625..151120818-chr1:151135402..151140051,4	MCF-7	breast:
9	chr1:151106109..151110392-chr1:151117941..151122227,5	K562	blood:
10	chr1:151118376..151121066-chr1:151225165..151227350,2	MCF-7	breast:
11	chr1:151118809..151120860-chr1:151252294..151254808,2	K562	blood:
12	chr1:151117616..151120860-chr1:151252294..151255501,4	K562	blood:
13	chr1:151106109..151108676-chr1:151117941..151119953,3	K562	blood:
14	chr1:151116657..151121305-chr1:151127749..151129795,4	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SEMA6C-3	chr1:151119192-151119730	NONHSAT006366

No data

Variant related genes	Relation type
SEMA6C	TF binding region
SEMA6C	CpG island
ENSG00000261168	Chromatin interaction
ENSG00000143409	Chromatin interaction
ENSG00000163155	Chromatin interaction
ENSG00000143458	Chromatin interaction
ENSG00000143373	Chromatin interaction
ENSG00000232671	Chromatin interaction
ENSG00000143363	Chromatin interaction
ENSG00000163154	Chromatin interaction
ENSG00000143434	Chromatin interaction
ENSG00000163156	Chromatin interaction
ENSG00000159352	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs61819215	0.87[AFR][1000 genomes]
rs6694357	0.87[AFR][1000 genomes]
rs72992099	0.86[AFR][1000 genomes]
rs72994015	0.86[AFR][1000 genomes]

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	nsv1001897	chr1:150743271-151241600	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv535158	chr1:150743271-151241600	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv522840	chr1:150933723-151347746	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
4	nsv916272	chr1:150961809-151557253	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases
5	nsv831559	chr1:151109459-151239921	Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 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	chr1:151117000-151119600	Active TSS	Fetal Kidney	kidney
2	chr1:151117200-151119600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:151117200-151119600	Active TSS	Brain Angular Gyrus	brain
4	chr1:151117400-151119600	Active TSS	Fetal Brain Male	brain
5	chr1:151117400-151119600	Active TSS	Fetal Brain Female	brain
6	chr1:151117400-151119600	Active TSS	HSMMtube	muscle
7	chr1:151117400-151120200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr1:151117600-151119600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr1:151117600-151119600	Active TSS	H9 Cell Line	embryonic stem cell
10	chr1:151117600-151119600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr1:151117600-151119600	Active TSS	Left Ventricle	heart
12	chr1:151117800-151119600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr1:151117800-151119600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
14	chr1:151117800-151119600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
15	chr1:151117800-151119600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr1:151117800-151119600	Active TSS	Brain Substantia Nigra	brain
17	chr1:151117800-151119600	Active TSS	Esophagus	oesophagus
18	chr1:151117800-151119600	Active TSS	Fetal Heart	heart
19	chr1:151117800-151120000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
20	chr1:151118000-151119600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
21	chr1:151118000-151119600	Active TSS	Fetal Lung	lung
22	chr1:151118000-151119600	Active TSS	Ovary	ovary
23	chr1:151118000-151119600	Active TSS	Rectal Smooth Muscle	rectum
24	chr1:151118000-151119800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
25	chr1:151118000-151119800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr1:151118200-151119600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr1:151118200-151119600	Active TSS	Psoas Muscle	Psoas
28	chr1:151118200-151119600	Active TSS	Right Atrium	heart
29	chr1:151118200-151119600	Active TSS	Small Intestine	intestine
30	chr1:151118200-151119800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
31	chr1:151118200-151119800	Active TSS	Aorta	Aorta
32	chr1:151118200-151119800	Active TSS	Colon Smooth Muscle	Colon
33	chr1:151118200-151119800	Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr1:151118200-151120000	Flanking Active TSS	Primary B cells from cord blood	blood
35	chr1:151118400-151119600	Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr1:151118400-151119600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
37	chr1:151118400-151119600	Active TSS	Primary T helper cells PMA-I stimulated	--
38	chr1:151118400-151119600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr1:151118400-151119600	Active TSS	Primary T killer memory cells from peripheral blood	blood
40	chr1:151118400-151119600	Active TSS	Brain Cingulate Gyrus	brain
41	chr1:151118400-151119600	Active TSS	Brain Hippocampus Middle	brain
42	chr1:151118400-151119600	Active TSS	Duodenum Smooth Muscle	Duodenum
43	chr1:151118400-151119600	Active TSS	Sigmoid Colon	Sigmoid Colon
44	chr1:151118400-151119600	Active TSS	NHDF-Ad	bronchial
45	chr1:151118400-151120000	Active TSS	Primary T helper naive cells from peripheral blood	blood
46	chr1:151118600-151119600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
47	chr1:151118600-151119600	Active TSS	Brain Anterior Caudate	brain
48	chr1:151118600-151119600	Active TSS	Brain Inferior Temporal Lobe	brain
49	chr1:151118600-151119600	Active TSS	Fetal Intestine Small	intestine
50	chr1:151118600-151119600	Active TSS	Gastric	stomach

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