Variant report

Variant	rs188215369
Chromosome Location	chr2:97617439-97617440
allele	C/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	SIN3AK20	chr2:97616275-97618547	MCF-7	breast:	n/a	n/a
2	CTCF	chr2:97616675-97617457	A549	lung:	n/a	chr2:97617084-97617097 chr2:97617077-97617098 chr2:97617082-97617100 chr2:97617089-97617096 chr2:97617084-97617097 chr2:97617083-97617099
3	CTCF	chr2:97617340-97617490	HMF	breast:	n/a	n/a
4	CTCF	chr2:97616807-97617442	MCF-7	breast:	n/a	chr2:97617084-97617097 chr2:97617077-97617098 chr2:97617082-97617100 chr2:97617089-97617096 chr2:97617084-97617097 chr2:97617083-97617099
5	CTCF	chr2:97617320-97617470	AG04449	skin:	n/a	n/a
6	MAX	chr2:97616773-97617450	H1-hESC	embryonic stem cell:	n/a	chr2:97616816-97616827 chr2:97616815-97616823 chr2:97616817-97616826
7	MAX	chr2:97616601-97617536	MCF-7	breast:	n/a	chr2:97616816-97616827 chr2:97616815-97616823 chr2:97616817-97616826
8	SMC3	chr2:97615968-97617531	SK-N-SH	brain:	n/a	chr2:97617084-97617098 chr2:97616504-97616512 chr2:97616817-97616831 chr2:97617064-97617071
9	CTCF	chr2:97617340-97617490	GM12868	blood:	n/a	n/a
10	RAD21	chr2:97616594-97617452	HCT-116	colon:	n/a	chr2:97617080-97617099 chr2:97617089-97617098 chr2:97617084-97617098 chr2:97616796-97616805 chr2:97617229-97617241
11	MYBL2	chr2:97616823-97617509	HepG2	liver:	n/a	n/a
12	CTCF	chr2:97616526-97617578	HCT-116	colon:	n/a	chr2:97617084-97617097 chr2:97617077-97617098 chr2:97617082-97617100 chr2:97617089-97617096 chr2:97617084-97617097 chr2:97617083-97617099
13	RAD21	chr2:97616554-97617494	MCF-7	breast:	n/a	chr2:97617080-97617099 chr2:97617089-97617098 chr2:97617084-97617098 chr2:97616796-97616805 chr2:97617229-97617241
14	CTCF	chr2:97616417-97617513	SK-N-SH	brain:	n/a	chr2:97617084-97617097 chr2:97617077-97617098 chr2:97617082-97617100 chr2:97617089-97617096 chr2:97617084-97617097 chr2:97617083-97617099
15	RAD21	chr2:97615932-97617540	SK-N-SH	brain:	n/a	chr2:97617080-97617099 chr2:97617089-97617098 chr2:97617084-97617098 chr2:97616796-97616805 chr2:97617229-97617241
16	RAD21	chr2:97616566-97617524	HCT-116	colon:	n/a	chr2:97617080-97617099 chr2:97617089-97617098 chr2:97617084-97617098 chr2:97616796-97616805 chr2:97617229-97617241
17	MAX	chr2:97616924-97617474	NB4	blood:	n/a	n/a
18	TBP	chr2:97616972-97617507	K562	blood:	n/a	n/a
19	MAX	chr2:97616782-97617459	H1-hESC	embryonic stem cell:	n/a	chr2:97616816-97616827 chr2:97616815-97616823 chr2:97616817-97616826

No.	Distal block	Cell Line	Cell type
1	chr2:97481193..97483827-chr2:97615548..97618256,2	MCF-7	breast:
2	chr2:97523433..97524405-chr2:97616568..97617773,7	MCF-7	breast:
3	chr2:97534288..97535347-chr2:97616704..97617840,3	MCF-7	breast:
4	chr2:97558219..97561795-chr2:97617145..97620359,3	K562	blood:
5	chr2:97581932..97582913-chr2:97616904..97617546,3	MCF-7	breast:
6	chr2:97557540..97561219-chr2:97615825..97618671,3	MCF-7	breast:
7	chr2:97539206..97539881-chr2:97616937..97617560,2	MCF-7	breast:
8	chr2:97516728..97547486-chr2:97588377..97628331,265	MCF-7	breast:
9	chr2:97426031..97428759-chr2:97617125..97619977,2	MCF-7	breast:
10	chr2:97521500..97526453-chr2:97614513..97620136,8	K562	blood:
11	chr2:97521500..97526547-chr2:97614513..97619168,8	K562	blood:
12	chr2:97507563..97509402-chr2:97616532..97618941,2	MCF-7	breast:
13	chr2:97523071..97525256-chr2:97616476..97617590,33	MCF-7	breast:
14	chr2:97523486..97525273-chr2:97616574..97617578,17	K562	blood:
15	chr2:97534744..97537184-chr2:97615647..97618608,4	K562	blood:

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

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97611200-97618000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr2:97612800-97620200	Enhancers	K562	blood
3	chr2:97614800-97619800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
4	chr2:97615200-97618200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:97615400-97621800	Enhancers	Colonic Mucosa	Colon
6	chr2:97615600-97617600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:97615600-97620800	Enhancers	Fetal Brain Male	brain
8	chr2:97615600-97620800	Enhancers	Ovary	ovary
9	chr2:97615800-97617600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
10	chr2:97615800-97619000	Bivalent Enhancer	Fetal Muscle Leg	muscle
11	chr2:97615800-97620800	Enhancers	Fetal Lung	lung
12	chr2:97616000-97618200	Enhancers	Rectal Smooth Muscle	rectum
13	chr2:97616000-97618400	Enhancers	Fetal Intestine Small	intestine
14	chr2:97616000-97618600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr2:97616000-97618800	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr2:97616000-97620800	Enhancers	Fetal Thymus	thymus
17	chr2:97616600-97617600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
18	chr2:97616600-97617600	Enhancers	HMEC	breast
19	chr2:97616800-97617600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr2:97616800-97618000	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr2:97616800-97618200	Enhancers	Rectal Mucosa Donor 29	rectum
22	chr2:97617000-97617600	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr2:97617000-97617600	Bivalent Enhancer	HepG2	liver
24	chr2:97617000-97618200	Weak transcription	Primary hematopoietic stem cells	blood
25	chr2:97617000-97618400	Weak transcription	Brain Germinal Matrix	brain
26	chr2:97617000-97618600	Enhancers	Stomach Mucosa	stomach
27	chr2:97617000-97619000	Weak transcription	Fetal Intestine Large	intestine
28	chr2:97617000-97619400	Weak transcription	Left Ventricle	heart
29	chr2:97617000-97619600	Weak transcription	Liver	Liver
30	chr2:97617000-97620600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
31	chr2:97617000-97621800	Enhancers	Duodenum Smooth Muscle	Duodenum
32	chr2:97617000-97622800	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr2:97617200-97617800	Weak transcription	Gastric	stomach
34	chr2:97617200-97618200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr2:97617200-97618800	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr2:97617200-97619000	Weak transcription	Right Ventricle	heart
37	chr2:97617200-97619000	Weak transcription	Spleen	Spleen
38	chr2:97617200-97620200	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr2:97617200-97620400	Enhancers	Brain Cingulate Gyrus	brain
40	chr2:97617200-97620400	Enhancers	Brain Hippocampus Middle	brain
41	chr2:97617200-97620600	Enhancers	Sigmoid Colon	Sigmoid Colon
42	chr2:97617200-97621600	Enhancers	Placenta	Placenta
43	chr2:97617400-97617800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr2:97617400-97617800	Enhancers	Colon Smooth Muscle	Colon
45	chr2:97617400-97618000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr2:97617400-97618200	Enhancers	Stomach Smooth Muscle	stomach
47	chr2:97617400-97618400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr2:97617400-97618400	Weak transcription	Brain Angular Gyrus	brain
49	chr2:97617400-97618400	Weak transcription	Brain Anterior Caudate	brain
50	chr2:97617400-97618400	Weak transcription	Brain Substantia Nigra	brain

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