Variant report

Variant	rs1796027
Chromosome Location	chr2:97618166-97618167
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:61)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SIN3AK20	chr2:97616275-97618547	MCF-7	breast:	n/a	n/a
2	HDAC2	chr2:97617704-97618178	MCF-7	breast:	n/a	n/a
3	RCOR1	chr2:97618157-97618279	K562	blood:	n/a	n/a
4	EP300	chr2:97617664-97618446	MCF-7	breast:	n/a	chr2:97617861-97617874
5	MXI1	chr2:97618052-97619458	IMR90	lung:	n/a	chr2:97618949-97618958
6	NR2F2	chr2:97617675-97618198	MCF-7	breast:	n/a	n/a
7	MYC	chr2:97618106-97618199	MCF-7	breast:	n/a	chr2:97618150-97618159

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:97618137-97618187	HEK293	kidney:	embryo
2	chr2:97618137-97618187	GM12892	blood:	n/a
3	chr2:97618137-97618187	AG04450	lung:	fetal
4	chr2:97618137-97618187	AoSMC	blood vessel:	n/a
5	chr2:97618137-97618187	HUVEC	blood vessel:	n/a
6	chr2:97618137-97618187	SAEC	small airway:	n/a
7	chr2:97618137-97618187	PFSK-1	brain:	n/a
8	chr2:97618137-97618187	HRCEpiC	kidney:	n/a
9	chr2:97618137-97618187	H1-hESC	embryonic stem cell:	embryo
10	chr2:97618137-97618187	HIPEpiC	eye:	n/a
11	chr2:97618137-97618187	HRE	kidney:	n/a
12	chr2:97618137-97618187	AG09319	gingival:	n/a
13	chr2:97618137-97618187	AG04449	skin:	fetal
14	chr2:97618137-97618187	ProgFib	skin:	n/a
15	chr2:97618137-97618187	A549	lung:	n/a
16	chr2:97618137-97618187	MCF10A-Er-Src	breast:	n/a
17	chr2:97618137-97618187	SKMC	muscle:	n/a
18	chr2:97618137-97618187	Caco-2	colon:	n/a
19	chr2:97618137-97618187	GM19239	blood:	n/a
20	chr2:97618137-97618187	IMR90	lung:	fetal
21	chr2:97618137-97618187	HAEpiC	amniotic membrane:	n/a
22	chr2:97618137-97618187	HCM	heart:	n/a
23	chr2:97618137-97618187	Hepatocyte	liver:	n/a
24	chr2:97618137-97618187	HMEC	breast:	n/a
25	chr2:97618137-97618187	AG09309	skin:	n/a
26	chr2:97618137-97618187	NHDF-neo	bronchial:	n/a
27	chr2:97618137-97618187	NHBE	bronchial:	n/a
28	chr2:97618137-97618187	BJ	skin:	n/a
29	chr2:97618137-97618187	SK-N-MC	brain:	n/a
30	chr2:97618137-97618187	HNPCEpiC	eye:	n/a
31	chr2:97618137-97618187	HCPEpiC	choroid plexus:	n/a
32	chr2:97618137-97618187	HRPEpiC	eye:	n/a
33	chr2:97618137-97618187	HCF	heart:	n/a
34	chr2:97618137-97618187	GM12878	blood:	n/a
35	chr2:97618137-97618187	NT2-D1	testis:	n/a
36	chr2:97618137-97618187	RPTEC	kidney:	n/a
37	chr2:97618137-97618187	SK-N-SH_RA	brain:	n/a
38	chr2:97618137-97618187	MCF-7	breast:	n/a
39	chr2:97618137-97618187	BE2_C	brain:	n/a
40	chr2:97618137-97618187	HL-60	blood:	n/a
41	chr2:97618137-97618187	Hela-S3	cervix:	n/a
42	chr2:97618137-97618187	GM12891	blood:	n/a
43	chr2:97618137-97618187	Jurkat	blood:	n/a
44	chr2:97618137-97618187	HEEpiC	esophagus:	n/a
45	chr2:97618137-97618187	CMK	blood:	n/a
46	chr2:97618137-97618187	T-47D	breast:	n/a
47	chr2:97618137-97618187	PrEC	prostate:	n/a
48	chr2:97618137-97618187	AG10803	skin:	n/a
49	chr2:97618137-97618187	HCT-116	colon:	n/a
50	chr2:97618137-97618187	LNCaP	prostate:	n/a

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:97481193..97483827-chr2:97615548..97618256,2	MCF-7	breast:
2	chr2:97558219..97561795-chr2:97617145..97620359,3	K562	blood:
3	chr2:97557540..97561219-chr2:97615825..97618671,3	MCF-7	breast:
4	chr2:97516728..97547486-chr2:97588377..97628331,265	MCF-7	breast:
5	chr2:97426031..97428759-chr2:97617125..97619977,2	MCF-7	breast:
6	chr2:97521500..97526453-chr2:97614513..97620136,8	K562	blood:
7	chr2:97521500..97526547-chr2:97614513..97619168,8	K562	blood:
8	chr2:97507563..97509402-chr2:97616532..97618941,2	MCF-7	breast:
9	chr2:97534744..97537184-chr2:97615647..97618608,4	K562	blood:

No data

Variant related genes	Relation type
FAM178B	TF binding region
FAM178B	CpG island
ENSG00000213337	Chromatin interaction
ENSG00000168754	Chromatin interaction
ENSG00000158158	Chromatin interaction
ENSG00000168758	Chromatin interaction
ENSG00000163126	Chromatin interaction
ENSG00000168763	Chromatin interaction

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10202644	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1257000	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1257008	0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1257009	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1257011	0.90[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1257012	0.90[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1257015	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1257016	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1257017	0.90[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1257018	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1257019	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1257020	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1257027	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1257028	0.90[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1257029	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1268682	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12717785	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12717786	0.87[EUR][1000 genomes]
rs12717787	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs13016654	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13021723	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1623881	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1624844	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1730106	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1730111	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1730119	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1730120	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1730122	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1730123	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1730124	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1730126	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1730127	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1730128	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1730129	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1730130	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1730131	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1796028	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1796029	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1796032	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1796038	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1796041	0.90[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1796044	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1796045	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1796046	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1796047	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1796049	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs34434950	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs34895357	0.81[AMR][1000 genomes]
rs4263148	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4366944	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4586672	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6576992	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6576993	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6576994	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6576995	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6576997	0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs6576999	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6707255	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6714860	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6715329	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6725927	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6757916	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7569434	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7584318	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7584335	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7593493	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7597743	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933671	chr2:96739308-97652262	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv1000780	chr2:96740430-97671395	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv535826	chr2:96740430-97671395	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
4	nsv874677	chr2:96756547-97717345	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
5	nsv1001204	chr2:96766559-97728507	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
6	nsv535827	chr2:96766559-97728507	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
7	nsv874680	chr2:97309574-97678319	Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
8	nsv526313	chr2:97333492-97660619	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
9	nsv582497	chr2:97569305-97715154	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
10	esv2757819	chr2:97571109-98336507	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
11	esv2759077	chr2:97571109-98336507	Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
12	nsv1001432	chr2:97591069-97671395	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
13	esv32727	chr2:97616488-97643975	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97612800-97620200	Enhancers	K562	blood
2	chr2:97614800-97619800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
3	chr2:97615200-97618200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr2:97615400-97621800	Enhancers	Colonic Mucosa	Colon
5	chr2:97615600-97620800	Enhancers	Fetal Brain Male	brain
6	chr2:97615600-97620800	Enhancers	Ovary	ovary
7	chr2:97615800-97619000	Bivalent Enhancer	Fetal Muscle Leg	muscle
8	chr2:97615800-97620800	Enhancers	Fetal Lung	lung
9	chr2:97616000-97618200	Enhancers	Rectal Smooth Muscle	rectum
10	chr2:97616000-97618400	Enhancers	Fetal Intestine Small	intestine
11	chr2:97616000-97618600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr2:97616000-97618800	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr2:97616000-97620800	Enhancers	Fetal Thymus	thymus
14	chr2:97616800-97618200	Enhancers	Rectal Mucosa Donor 29	rectum
15	chr2:97617000-97618200	Weak transcription	Primary hematopoietic stem cells	blood
16	chr2:97617000-97618400	Weak transcription	Brain Germinal Matrix	brain
17	chr2:97617000-97618600	Enhancers	Stomach Mucosa	stomach
18	chr2:97617000-97619000	Weak transcription	Fetal Intestine Large	intestine
19	chr2:97617000-97619400	Weak transcription	Left Ventricle	heart
20	chr2:97617000-97619600	Weak transcription	Liver	Liver
21	chr2:97617000-97620600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
22	chr2:97617000-97621800	Enhancers	Duodenum Smooth Muscle	Duodenum
23	chr2:97617000-97622800	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr2:97617200-97618200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr2:97617200-97618800	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr2:97617200-97619000	Weak transcription	Right Ventricle	heart
27	chr2:97617200-97619000	Weak transcription	Spleen	Spleen
28	chr2:97617200-97620200	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr2:97617200-97620400	Enhancers	Brain Cingulate Gyrus	brain
30	chr2:97617200-97620400	Enhancers	Brain Hippocampus Middle	brain
31	chr2:97617200-97620600	Enhancers	Sigmoid Colon	Sigmoid Colon
32	chr2:97617200-97621600	Enhancers	Placenta	Placenta
33	chr2:97617400-97618200	Enhancers	Stomach Smooth Muscle	stomach
34	chr2:97617400-97618400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr2:97617400-97618400	Weak transcription	Brain Angular Gyrus	brain
36	chr2:97617400-97618400	Weak transcription	Brain Anterior Caudate	brain
37	chr2:97617400-97618400	Weak transcription	Brain Substantia Nigra	brain
38	chr2:97617400-97618400	Weak transcription	Fetal Brain Female	brain
39	chr2:97617400-97618600	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr2:97617400-97618800	Weak transcription	Esophagus	oesophagus
41	chr2:97617400-97618800	Weak transcription	Pancreas	Pancrea
42	chr2:97617400-97619000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr2:97617400-97619000	Weak transcription	Lung	lung
44	chr2:97617400-97619200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr2:97617400-97619200	Weak transcription	Fetal Heart	heart
46	chr2:97617400-97619200	Weak transcription	Right Atrium	heart
47	chr2:97617400-97619400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr2:97617400-97619400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr2:97617400-97619400	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr2:97617400-97619400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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