Variant report

Variant	rs140344512
Chromosome Location	chr2:97561144-97561145
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	MAX	chr2:97560601-97561282	K562	blood:	n/a	n/a
2	MAX	chr2:97560994-97561206	K562	blood:	n/a	n/a
3	NR2F2	chr2:97560765-97561374	K562	blood:	n/a	n/a
4	CEBPD	chr2:97560641-97561296	K562	blood:	n/a	n/a
5	TEAD4	chr2:97560573-97561756	K562	blood:	n/a	n/a
6	GATA1	chr2:97560650-97561599	PBDE	blood:	n/a	n/a
7	POLR2A	chr2:97560811-97561267	K562	blood:	n/a	n/a
8	CBX3	chr2:97560740-97561220	K562	blood:	n/a	n/a
9	JUND	chr2:97560712-97561721	K562	blood:	n/a	chr2:97561556-97561565 chr2:97561555-97561565 chr2:97561555-97561564
10	HCFC1	chr2:97560841-97561299	K562	blood:	n/a	n/a
11	JUN	chr2:97560596-97562775	K562	blood:	n/a	chr2:97561556-97561565 chr2:97561555-97561565 chr2:97561555-97561564
12	TAL1	chr2:97560688-97561744	K562	blood:	n/a	n/a
13	E2F6	chr2:97561093-97561304	K562	blood:	n/a	n/a
14	ZMIZ1	chr2:97560756-97561255	K562	blood:	n/a	n/a
15	CEBPB	chr2:97560736-97561181	K562	blood:	n/a	n/a
16	MAZ	chr2:97560730-97561880	K562	blood:	n/a	chr2:97561707-97561717
17	TCF12	chr2:97560835-97561926	MCF-7	breast:	n/a	chr2:97561224-97561231 chr2:97561539-97561546 chr2:97561309-97561319 chr2:97561614-97561624
18	GATA1	chr2:97560619-97562368	K562	blood:	n/a	n/a
19	CUX1	chr2:97560761-97561267	K562	blood:	n/a	n/a
20	ZC3H11A	chr2:97560820-97561293	K562	blood:	n/a	n/a
21	IRF1	chr2:97560707-97561310	K562	blood:	n/a	n/a
22	POLR2A	chr2:97560889-97561238	K562	blood:	n/a	n/a
23	ZNF217	chr2:97561016-97561984	MCF-7	breast:	n/a	n/a
24	EGR1	chr2:97560856-97561195	K562	blood:	n/a	n/a
25	CHD2	chr2:97560725-97561535	K562	blood:	n/a	n/a
26	POLR2A	chr2:97560672-97561909	K562	blood:	n/a	n/a
27	E2F6	chr2:97560617-97561755	H1-hESC	embryonic stem cell:	n/a	chr2:97560863-97560874
28	MYC	chr2:97560715-97561327	K562	blood:	n/a	n/a
29	CEBPD	chr2:97560672-97561287	K562	blood:	n/a	n/a
30	IRF1	chr2:97560864-97561194	K562	blood:	n/a	n/a
31	FOS	chr2:97561129-97561726	MCF10A-Er-Src	breast:	n/a	chr2:97561556-97561565 chr2:97561555-97561565 chr2:97561555-97561564
32	ARID3A	chr2:97560767-97561191	K562	blood:	n/a	n/a
33	PML	chr2:97560641-97561316	K562	blood:	n/a	n/a
34	NR2F2	chr2:97560659-97561387	K562	blood:	n/a	n/a
35	GATA2	chr2:97560683-97561252	K562	blood:	n/a	n/a
36	TCF12	chr2:97561035-97561925	MCF-7	breast:	n/a	chr2:97561224-97561231 chr2:97561539-97561546 chr2:97561309-97561319 chr2:97561614-97561624
37	MAX	chr2:97560734-97561431	K562	blood:	n/a	n/a
38	HDAC2	chr2:97560936-97561616	K562	blood:	n/a	n/a
39	MYC	chr2:97560726-97561410	K562	blood:	n/a	n/a
40	GATA2	chr2:97560715-97561222	K562	blood:	n/a	n/a
41	POLR2A	chr2:97558871-97561517	K562	blood:	n/a	n/a
42	BHLHE40	chr2:97560766-97561389	K562	blood:	n/a	n/a
43	MXI1	chr2:97560834-97561175	K562	blood:	n/a	n/a
44	TRIM28	chr2:97560624-97561338	K562	blood:	n/a	n/a
45	YY1	chr2:97560948-97561251	K562	blood:	n/a	chr2:97561144-97561155
46	RCOR1	chr2:97560737-97561230	K562	blood:	n/a	n/a
47	EP300	chr2:97560889-97561191	GM12878	blood:	n/a	n/a
48	POLR2A	chr2:97560732-97561245	K562	blood:	n/a	n/a
49	CCNT2	chr2:97560755-97561372	K562	blood:	n/a	chr2:97561146-97561155
50	TFAP2C	chr2:97561121-97561586	Hela-S3	cervix:	n/a	chr2:97561386-97561401

No.	Distal block	Cell Line	Cell type
1	chr2:97481114..97483138-chr2:97559703..97563563,4	MCF-7	breast:
2	chr2:97531702..97533612-chr2:97560749..97562713,2	K562	blood:
3	chr2:97558219..97561795-chr2:97617145..97620359,3	K562	blood:
4	chr2:97557540..97561219-chr2:97615825..97618671,3	MCF-7	breast:

Variant related genes	Relation type
FAM178B	TF binding region
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	nsv874681	chr2:97410949-97577343	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
10	nsv874682	chr2:97423626-97567389	Transcr. at gene 5' and 3' Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
11	esv3338876	chr2:97559250-97561798	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
12	esv3325388	chr2:97559400-97561723	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
13	esv3321809	chr2:97559875-97561323	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97554400-97563400	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr2:97554600-97563400	Weak transcription	Fetal Heart	heart
3	chr2:97554800-97561200	Weak transcription	Fetal Brain Female	brain
4	chr2:97555000-97561200	Weak transcription	Pancreas	Pancrea
5	chr2:97556000-97562200	Enhancers	Brain Anterior Caudate	brain
6	chr2:97556200-97562200	Enhancers	Brain Cingulate Gyrus	brain
7	chr2:97556200-97562400	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr2:97556400-97565200	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr2:97556600-97566000	Enhancers	Fetal Thymus	thymus
10	chr2:97556800-97562600	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr2:97557200-97561200	Weak transcription	Thymus	Thymus
12	chr2:97557600-97561200	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr2:97557600-97561200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:97557800-97561200	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr2:97557800-97561200	Weak transcription	Gastric	stomach
16	chr2:97557800-97561200	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr2:97557800-97563200	Weak transcription	Osteobl	bone
18	chr2:97558000-97561200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr2:97558000-97561200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr2:97558000-97561200	Weak transcription	Fetal Intestine Large	intestine
21	chr2:97558000-97561200	Weak transcription	Right Ventricle	heart
22	chr2:97558000-97562400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr2:97558200-97561200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr2:97558200-97561200	Weak transcription	Colonic Mucosa	Colon
25	chr2:97558200-97561200	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr2:97558200-97561200	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr2:97558200-97572200	Weak transcription	Right Atrium	heart
28	chr2:97558400-97561200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr2:97558600-97561200	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr2:97558600-97566200	Enhancers	Fetal Muscle Leg	muscle
31	chr2:97559200-97561200	Weak transcription	Adipose Nuclei	Adipose
32	chr2:97559600-97561800	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr2:97559600-97565800	Enhancers	HSMM	muscle
34	chr2:97559800-97561200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr2:97559800-97561200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr2:97559800-97561200	Weak transcription	Spleen	Spleen
37	chr2:97560400-97562800	Enhancers	Ovary	ovary
38	chr2:97560600-97561400	Enhancers	NHEK	skin
39	chr2:97560600-97561600	Flanking Active TSS	K562	blood
40	chr2:97560600-97562200	Enhancers	Brain Angular Gyrus	brain
41	chr2:97560600-97562400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
42	chr2:97560600-97562400	Enhancers	Brain Substantia Nigra	brain
43	chr2:97560600-97562600	Enhancers	Primary T cells from cord blood	blood
44	chr2:97560600-97562600	Enhancers	Brain Hippocampus Middle	brain
45	chr2:97560600-97562600	Enhancers	Fetal Stomach	stomach
46	chr2:97560600-97562600	Enhancers	Lung	lung
47	chr2:97560600-97563400	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr2:97560600-97566600	Enhancers	Placenta	Placenta
49	chr2:97560800-97561400	Enhancers	A549	lung
50	chr2:97560800-97561600	Enhancers	Hela-S3	cervix

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