Variant report

Variant	rs529817648
Chromosome Location	chr2:97616749-97616750
allele	A/G
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	CTCF	chr2:97616600-97616750	WI-38	lung:	n/a	n/a
2	SIN3AK20	chr2:97616275-97618547	MCF-7	breast:	n/a	n/a
3	JUND	chr2:97616731-97617219	H1-hESC	embryonic stem cell:	n/a	chr2:97616835-97616846
4	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
5	MAFK	chr2:97616624-97617209	K562	blood:	n/a	n/a
6	CTCF	chr2:97616680-97616830	HMF	breast:	n/a	n/a
7	RAD21	chr2:97616685-97617437	ECC-1	luminal epithelium:	n/a	chr2:97617080-97617099 chr2:97617089-97617098 chr2:97617084-97617098 chr2:97616796-97616805 chr2:97617229-97617241
8	ELK1	chr2:97616713-97617091	K562	blood:	n/a	n/a
9	CTCF	chr2:97616620-97616770	HCT-116	colon:	n/a	n/a
10	CTBP2	chr2:97616744-97617379	H1-hESC	embryonic stem cell:	n/a	n/a
11	MAZ	chr2:97616727-97617268	K562	blood:	n/a	chr2:97616816-97616827 chr2:97616815-97616823 chr2:97616817-97616826
12	RAD21	chr2:97616700-97617429	MCF-7	breast:	n/a	chr2:97617080-97617099 chr2:97617089-97617098 chr2:97617084-97617098 chr2:97616796-97616805 chr2:97617229-97617241
13	CTCF	chr2:97616678-97617327	K562	blood:	n/a	chr2:97617084-97617097 chr2:97617077-97617098 chr2:97617082-97617100 chr2:97617089-97617096 chr2:97617084-97617097 chr2:97617083-97617099
14	MAX	chr2:97616601-97617536	MCF-7	breast:	n/a	chr2:97616816-97616827 chr2:97616815-97616823 chr2:97616817-97616826
15	SMC3	chr2:97615968-97617531	SK-N-SH	brain:	n/a	chr2:97617084-97617098 chr2:97616504-97616512 chr2:97616817-97616831 chr2:97617064-97617071
16	CTCF	chr2:97616640-97616790	NHEK	skin:	n/a	n/a
17	CTCF	chr2:97616692-97617427	MCF-7	breast:	n/a	chr2:97617084-97617097 chr2:97617077-97617098 chr2:97617082-97617100 chr2:97617089-97617096 chr2:97617084-97617097 chr2:97617083-97617099
18	RAD21	chr2:97616594-97617452	HCT-116	colon:	n/a	chr2:97617080-97617099 chr2:97617089-97617098 chr2:97617084-97617098 chr2:97616796-97616805 chr2:97617229-97617241
19	ZNF143	chr2:97616745-97617278	H1-hESC	embryonic stem cell:	n/a	n/a
20	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
21	HMGN3	chr2:97616514-97617359	K562	blood:	n/a	n/a
22	POLR2A	chr2:97616610-97617310	K562	blood:	n/a	n/a
23	ZNF263	chr2:97616521-97617262	HEK293-T-REx	kidney:	n/a	chr2:97616980-97616989
24	RAD21	chr2:97616728-97617407	H1-hESC	embryonic stem cell:	n/a	chr2:97617080-97617099 chr2:97617089-97617098 chr2:97617084-97617098 chr2:97616796-97616805 chr2:97617229-97617241
25	RAD21	chr2:97616554-97617494	MCF-7	breast:	n/a	chr2:97617080-97617099 chr2:97617089-97617098 chr2:97617084-97617098 chr2:97616796-97616805 chr2:97617229-97617241
26	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
27	E2F6	chr2:97616734-97617350	H1-hESC	embryonic stem cell:	n/a	chr2:97617079-97617091
28	RAD21	chr2:97616726-97617434	A549	lung:	n/a	chr2:97617080-97617099 chr2:97617089-97617098 chr2:97617084-97617098 chr2:97616796-97616805 chr2:97617229-97617241
29	RAD21	chr2:97616553-97617294	H1-hESC	embryonic stem cell:	n/a	chr2:97617080-97617099 chr2:97617089-97617098 chr2:97617084-97617098 chr2:97616796-97616805 chr2:97617229-97617241
30	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
31	RAD21	chr2:97616566-97617524	HCT-116	colon:	n/a	chr2:97617080-97617099 chr2:97617089-97617098 chr2:97617084-97617098 chr2:97616796-97616805 chr2:97617229-97617241
32	E2F6	chr2:97616528-97617408	H1-hESC	embryonic stem cell:	n/a	chr2:97617079-97617091

No.	Distal block	Cell Line	Cell type
1	chr2:97533737..97536220-chr2:97612669..97617368,4	K562	blood:
2	chr2:97529274..97530551-chr2:97616477..97617259,4	MCF-7	breast:
3	chr2:97481193..97483827-chr2:97615548..97618256,2	MCF-7	breast:
4	chr2:97523433..97524405-chr2:97616568..97617773,7	MCF-7	breast:
5	chr2:97534288..97535347-chr2:97616704..97617840,3	MCF-7	breast:
6	chr2:97557540..97561219-chr2:97615825..97618671,3	MCF-7	breast:
7	chr2:97530625..97533961-chr2:97614118..97617148,3	K562	blood:
8	chr2:97490026..97490966-chr2:97616219..97617186,2	MCF-7	breast:
9	chr2:97516728..97547486-chr2:97588377..97628331,265	MCF-7	breast:
10	chr2:97525659..97526393-chr2:97616230..97616885,2	MCF-7	breast:
11	chr2:97530248..97531059-chr2:97616574..97617127,3	MCF-7	breast:
12	chr2:97521500..97526453-chr2:97614513..97620136,8	K562	blood:
13	chr2:97521500..97526547-chr2:97614513..97619168,8	K562	blood:
14	chr2:97507563..97509402-chr2:97616532..97618941,2	MCF-7	breast:
15	chr2:97593280..97593975-chr2:97616667..97617312,2	MCF-7	breast:
16	chr2:97534314..97535258-chr2:97616618..97617402,4	MCF-7	breast:
17	chr2:97523071..97525256-chr2:97616476..97617590,33	MCF-7	breast:
18	chr2:97523486..97525273-chr2:97616574..97617578,17	K562	blood:
19	chr2:97534744..97537184-chr2:97615647..97618608,4	K562	blood:

Variant related genes	Relation type
FAM178B	TF binding region
ENSG00000163126	Chromatin interaction
ENSG00000213337	Chromatin interaction
ENSG00000168763	Chromatin interaction
ENSG00000168754	Chromatin interaction
ENSG00000168758	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:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97610400-97617400	Enhancers	Brain Substantia Nigra	brain
2	chr2:97611200-97616800	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr2:97611200-97618000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:97612800-97620200	Enhancers	K562	blood
5	chr2:97613200-97617400	Enhancers	Brain Anterior Caudate	brain
6	chr2:97614800-97619800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
7	chr2:97615200-97618200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr2:97615400-97617200	Flanking Active TSS	Brain Cingulate Gyrus	brain
9	chr2:97615400-97617400	Bivalent Enhancer	Fetal Stomach	stomach
10	chr2:97615400-97621800	Enhancers	Colonic Mucosa	Colon
11	chr2:97615600-97617000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr2:97615600-97617200	Flanking Active TSS	Brain Hippocampus Middle	brain
13	chr2:97615600-97617200	Bivalent Enhancer	Placenta	Placenta
14	chr2:97615600-97617400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr2:97615600-97617600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:97615600-97620800	Enhancers	Fetal Brain Male	brain
17	chr2:97615600-97620800	Enhancers	Ovary	ovary
18	chr2:97615800-97617200	Enhancers	Spleen	Spleen
19	chr2:97615800-97617400	Enhancers	Fetal Heart	heart
20	chr2:97615800-97617600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
21	chr2:97615800-97619000	Bivalent Enhancer	Fetal Muscle Leg	muscle
22	chr2:97615800-97620800	Enhancers	Fetal Lung	lung
23	chr2:97616000-97617200	Enhancers	Right Ventricle	heart
24	chr2:97616000-97617400	Flanking Active TSS	Colon Smooth Muscle	Colon
25	chr2:97616000-97617400	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr2:97616000-97618200	Enhancers	Rectal Smooth Muscle	rectum
27	chr2:97616000-97618400	Enhancers	Fetal Intestine Small	intestine
28	chr2:97616000-97618600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr2:97616000-97618800	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr2:97616000-97620800	Enhancers	Fetal Thymus	thymus
31	chr2:97616200-97616800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr2:97616200-97617000	Enhancers	Brain Germinal Matrix	brain
33	chr2:97616200-97617200	Enhancers	Placenta Amnion	Placenta Amnion
34	chr2:97616200-97617400	Flanking Active TSS	Stomach Smooth Muscle	stomach
35	chr2:97616400-97617000	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr2:97616400-97617000	Enhancers	Fetal Intestine Large	intestine
37	chr2:97616400-97617000	Bivalent Enhancer	Stomach Mucosa	stomach
38	chr2:97616400-97617400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr2:97616400-97617400	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr2:97616400-97617400	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr2:97616400-97617400	Bivalent Enhancer	Adipose Nuclei	Adipose
42	chr2:97616600-97616800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
43	chr2:97616600-97616800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr2:97616600-97616800	Bivalent Enhancer	HepG2	liver
45	chr2:97616600-97616800	Bivalent Enhancer	NHEK	skin
46	chr2:97616600-97617000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
47	chr2:97616600-97617000	Enhancers	H1 Cell Line	embryonic stem cell
48	chr2:97616600-97617000	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr2:97616600-97617000	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr2:97616600-97617000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell

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