Variant report

Variant	rs568599510
Chromosome Location	chr2:97202140-97202141
allele	C/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	GABPA	chr2:97202104-97203193	K562	blood:	n/a	chr2:97202363-97202372 chr2:97202731-97202740
2	CTCF	chr2:97202040-97202190	GM12866	blood:	n/a	n/a
3	SP1	chr2:97202076-97202681	A549	lung:	n/a	chr2:97202369-97202383 chr2:97202361-97202373 chr2:97202362-97202376 chr2:97202361-97202373 chr2:97202361-97202372 chr2:97202362-97202371 chr2:97202363-97202372 chr2:97202362-97202371
4	SIX5	chr2:97202117-97202504	A549	lung:	n/a	chr2:97202328-97202337 chr2:97202326-97202335
5	POLR2A	chr2:97202082-97202849	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr2:97202101-97206221	GM12878	blood:	n/a	n/a
7	ZNF384	chr2:97201732-97202536	GM12878	blood:	n/a	n/a
8	NFYB	chr2:97202101-97203092	GM12878	blood:	n/a	n/a
9	SP1	chr2:97201931-97202760	HCT-116	colon:	n/a	chr2:97202369-97202383 chr2:97202361-97202373 chr2:97202362-97202376 chr2:97202361-97202373 chr2:97202361-97202372 chr2:97202362-97202371 chr2:97202363-97202372 chr2:97202362-97202371
10	CTCF	chr2:97202140-97202290	HRPEpiC	eye:	n/a	n/a
11	CTCF	chr2:97202000-97202290	HMEC	breast:	n/a	n/a
12	SP4	chr2:97202128-97202545	H1-hESC	embryonic stem cell:	n/a	chr2:97202361-97202372 chr2:97202361-97202377
13	ZBTB7A	chr2:97202110-97202944	K562	blood:	n/a	n/a
14	ZNF143	chr2:97201650-97203066	GM12878	blood:	n/a	chr2:97202328-97202337 chr2:97202326-97202344 chr2:97202631-97202641 chr2:97202330-97202349 chr2:97202630-97202640 chr2:97202326-97202335
15	MXI1	chr2:97202087-97203358	IMR90	lung:	n/a	n/a
16	RELA	chr2:97202135-97203158	GM18951	blood:	n/a	n/a
17	MYC	chr2:97202137-97203415	NB4	blood:	n/a	chr2:97202991-97203000
18	MAX	chr2:97202139-97203881	GM12878	blood:	n/a	chr2:97202991-97203000
19	YY1	chr2:97202098-97203129	GM12892	blood:	n/a	chr2:97203020-97203034 chr2:97202630-97202644 chr2:97203049-97203063 chr2:97202363-97202372 chr2:97203022-97203031 chr2:97203093-97203104 chr2:97202984-97202993
20	ATF1	chr2:97202107-97202545	K562	blood:	n/a	n/a
21	CTCF	chr2:97202140-97202290	BJ	skin:	n/a	n/a
22	POLR2A	chr2:97202128-97202741	HCT-116	colon:	n/a	n/a
23	POLR2A	chr2:97202140-97205123	GM12892	blood:	n/a	n/a
24	CREB1	chr2:97202120-97203949	GM12878	blood:	n/a	chr2:97203711-97203724
25	SIX5	chr2:97202069-97202485	GM12878	blood:	n/a	chr2:97202328-97202337 chr2:97202326-97202335
26	SIN3A	chr2:97202090-97204920	H1-hESC	embryonic stem cell:	n/a	chr2:97203247-97203258 chr2:97203093-97203104 chr2:97202588-97202601
27	POLR2A	chr2:97202136-97206398	GM12892	blood:	n/a	n/a
28	SIX5	chr2:97202112-97202555	GM12878	blood:	n/a	chr2:97202328-97202337 chr2:97202326-97202335
29	CTCF	chr2:97202080-97202230	GM12875	blood:	n/a	n/a
30	YY1	chr2:97202099-97203172	GM12878	blood:	n/a	chr2:97203020-97203034 chr2:97202630-97202644 chr2:97203049-97203063 chr2:97202363-97202372 chr2:97203022-97203031 chr2:97203093-97203104 chr2:97202984-97202993
31	HDAC2	chr2:97202140-97202626	HepG2	liver:	n/a	n/a
32	SP1	chr2:97202102-97202545	H1-hESC	embryonic stem cell:	n/a	chr2:97202369-97202383 chr2:97202361-97202373 chr2:97202362-97202376 chr2:97202361-97202373 chr2:97202361-97202372 chr2:97202362-97202371 chr2:97202363-97202372 chr2:97202362-97202371
33	CTCF	chr2:97202080-97202230	GM12864	blood:	n/a	n/a
34	CTCF	chr2:97202140-97202290	GM12801	blood:	n/a	n/a
35	HCFC1	chr2:97201843-97203135	Hela-S3	cervix:	n/a	n/a
36	SP1	chr2:97202097-97202579	GM12878	blood:	n/a	chr2:97202369-97202383 chr2:97202361-97202373 chr2:97202362-97202376 chr2:97202361-97202373 chr2:97202361-97202372 chr2:97202362-97202371 chr2:97202363-97202372 chr2:97202362-97202371
37	POLR2A	chr2:97202092-97206325	GM12891	blood:	n/a	n/a
38	TCF12	chr2:97202105-97203067	ECC-1	luminal epithelium:	n/a	chr2:97202282-97202290
39	CUX1	chr2:97202100-97202306	K562	blood:	n/a	n/a
40	POU2F2	chr2:97202087-97203199	GM12878	blood:	n/a	chr2:97202363-97202375
41	FOSL2	chr2:97202129-97202561	HepG2	liver:	n/a	chr2:97202364-97202373 chr2:97202402-97202411
42	SP1	chr2:97201935-97202739	HCT-116	colon:	n/a	chr2:97202369-97202383 chr2:97202361-97202373 chr2:97202362-97202376 chr2:97202361-97202373 chr2:97202361-97202372 chr2:97202362-97202371 chr2:97202363-97202372 chr2:97202362-97202371
43	CTCF	chr2:97202140-97202290	HA-sp	spinal cord:	n/a	n/a
44	WRNIP1	chr2:97202118-97202353	GM12878	blood:	n/a	n/a
45	SP1	chr2:97202043-97202658	GM12878	blood:	n/a	chr2:97202369-97202383 chr2:97202361-97202373 chr2:97202362-97202376 chr2:97202361-97202373 chr2:97202361-97202372 chr2:97202362-97202371 chr2:97202363-97202372 chr2:97202362-97202371
46	CTCF	chr2:97202060-97202210	GM12872	blood:	n/a	n/a
47	SIX5	chr2:97202123-97202462	K562	blood:	n/a	chr2:97202328-97202337 chr2:97202326-97202335
48	NRF1	chr2:97202113-97202437	GM12878	blood:	n/a	chr2:97202363-97202372
49	CTCF	chr2:97202040-97202190	BE2_C	brain:	n/a	n/a
50	POLR2A	chr2:97202050-97206683	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:48222905..48223893-chr2:97202019..97202875,2	Hela-S3	cervix:
2	chr2:97200182..97202893-chr2:97212843..97214474,2	MCF-7	breast:
3	chr2:96873119..96874915-chr2:97202040..97204570,2	K562	blood:
4	chr2:96872802..96875592-chr2:97201053..97203640,2	K562	blood:
5	chr2:97170365..97172764-chr2:97201540..97203996,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000235480	TF binding region
ARID5A	TF binding region
ENSG00000163121	Chromatin interaction
ENSG00000196843	Chromatin interaction
ENSG00000084090	Chromatin interaction
ENSG00000257488	Chromatin interaction
ENSG00000204685	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 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	esv3460902	chr2:97138421-97459342	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
8	esv3460903	chr2:97138421-97459342	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
9	nsv999871	chr2:97157196-97407711	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
10	nsv535829	chr2:97157196-97407711	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
11	esv3341950	chr2:97201450-97203998	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97194000-97202600	Enhancers	Placenta	Placenta
2	chr2:97194400-97202400	Enhancers	Lung	lung
3	chr2:97197200-97202400	Enhancers	Brain Angular Gyrus	brain
4	chr2:97197200-97202400	Enhancers	Gastric	stomach
5	chr2:97197400-97202400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:97197400-97202400	Enhancers	Psoas Muscle	Psoas
7	chr2:97197800-97202400	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr2:97198000-97202200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr2:97198000-97202200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr2:97198000-97202200	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr2:97198000-97202400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr2:97198000-97202400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr2:97198000-97202400	Enhancers	Left Ventricle	heart
14	chr2:97198000-97202400	Enhancers	Right Ventricle	heart
15	chr2:97198000-97202400	Enhancers	HMEC	breast
16	chr2:97198200-97202400	Enhancers	Fetal Muscle Leg	muscle
17	chr2:97198200-97202600	Weak transcription	Fetal Kidney	kidney
18	chr2:97198400-97202400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
19	chr2:97198400-97203200	Weak transcription	Fetal Brain Male	brain
20	chr2:97198600-97202200	Weak transcription	Small Intestine	intestine
21	chr2:97199000-97202400	Weak transcription	Aorta	Aorta
22	chr2:97199400-97202200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr2:97199600-97202200	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr2:97199600-97202400	Weak transcription	NH-A	brain
25	chr2:97199800-97202400	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr2:97200000-97202200	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr2:97200200-97202400	Enhancers	Fetal Heart	heart
28	chr2:97200400-97202200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr2:97200400-97202200	Weak transcription	Fetal Brain Female	brain
30	chr2:97200400-97202200	Weak transcription	Osteobl	bone
31	chr2:97200600-97202200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr2:97200600-97202400	Weak transcription	Ovary	ovary
33	chr2:97200600-97202600	Weak transcription	Fetal Lung	lung
34	chr2:97200800-97202200	Weak transcription	NHLF	lung
35	chr2:97201000-97202200	Enhancers	Primary B cells from cord blood	blood
36	chr2:97201000-97202200	Weak transcription	Fetal Stomach	stomach
37	chr2:97201000-97202200	Enhancers	Fetal Thymus	thymus
38	chr2:97201000-97202200	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr2:97201000-97202200	Enhancers	NHEK	skin
40	chr2:97201000-97202400	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr2:97201000-97202400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr2:97201000-97202600	Weak transcription	NHDF-Ad	bronchial
43	chr2:97201200-97202200	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr2:97201400-97202400	Enhancers	Primary T helper naive cells from peripheral blood	blood
45	chr2:97201400-97202400	Enhancers	Brain Hippocampus Middle	brain
46	chr2:97201600-97202200	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr2:97201600-97202200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr2:97201600-97202200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr2:97201600-97202200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
50	chr2:97201600-97202200	Bivalent Enhancer	Fetal Muscle Trunk	muscle

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