Variant report

Variant	rs2356236
Chromosome Location	chr2:171671684-171671685
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	POLR2A	chr2:171669667-171676754	H1-neurons	neurons:	n/a	n/a
2	REST	chr2:171670030-171672638	HL-60	blood:	n/a	chr2:171671032-171671045 chr2:171670866-171670875 chr2:171672540-171672553 chr2:171670866-171670886 chr2:171670866-171670886 chr2:171670869-171670882 chr2:171670872-171670886 chr2:171670867-171670885 chr2:171670866-171670886
3	SIN3A	chr2:171669186-171672942	H1-hESC	embryonic stem cell:	n/a	chr2:171670866-171670879 chr2:171672333-171672342 chr2:171670871-171670885 chr2:171672540-171672553
4	CTCF	chr2:171671323-171672998	SK-N-SH	brain:	n/a	chr2:171672410-171672426 chr2:171672412-171672422 chr2:171672411-171672424 chr2:171672131-171672140 chr2:171672404-171672425 chr2:171672411-171672424 chr2:171672415-171672424 chr2:171672409-171672427
5	REST	chr2:171670373-171671809	H1-hESC	embryonic stem cell:	n/a	chr2:171671032-171671045 chr2:171670866-171670875 chr2:171670866-171670886 chr2:171670866-171670886 chr2:171670869-171670882 chr2:171670872-171670886 chr2:171670867-171670885 chr2:171670866-171670886
6	CTCF	chr2:171671680-171671830	SAEC	small airway:	n/a	n/a
7	REST	chr2:171670256-171671844	ECC-1	luminal epithelium:	n/a	chr2:171671032-171671045 chr2:171670866-171670875 chr2:171670866-171670886 chr2:171670866-171670886 chr2:171670869-171670882 chr2:171670872-171670886 chr2:171670867-171670885 chr2:171670866-171670886
8	POLR2A	chr2:171669237-171676101	H1-neurons	neurons:	n/a	n/a
9	JUND	chr2:171671627-171671782	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:171671648-171671698	HCM	heart:	n/a
2	chr2:171671648-171671698	HEK293	kidney:	embryo
3	chr2:171671648-171671698	SK-N-SH	brain:	n/a
4	chr2:171671648-171671698	NHDF-neo	bronchial:	n/a
5	chr2:171671648-171671698	BJ	skin:	n/a
6	chr2:171671648-171671698	HRPEpiC	eye:	n/a
7	chr2:171671648-171671698	ovcar-3	ovarian:	n/a
8	chr2:171671648-171671698	ProgFib	skin:	n/a
9	chr2:171671648-171671698	AG10803	skin:	n/a
10	chr2:171671648-171671698	MCF-7	breast:	n/a
11	chr2:171671648-171671698	NH-A	brain:	n/a
12	chr2:171671648-171671698	GM12891	blood:	n/a
13	chr2:171671648-171671698	AG09319	gingival:	n/a
14	chr2:171671648-171671698	HCPEpiC	choroid plexus:	n/a
15	chr2:171671648-171671698	AG04450	lung:	fetal
16	chr2:171671648-171671698	HepG2	liver:	n/a
17	chr2:171671648-171671698	HAEpiC	amniotic membrane:	n/a
18	chr2:171671648-171671698	A549	lung:	n/a
19	chr2:171671648-171671698	SK-N-MC	brain:	n/a
20	chr2:171671648-171671698	PFSK-1	brain:	n/a
21	chr2:171671648-171671698	IMR90	lung:	fetal
22	chr2:171671648-171671698	HMEC	breast:	n/a
23	chr2:171671648-171671698	PrEC	prostate:	n/a
24	chr2:171671648-171671698	ECC-1	luminal epithelium:	n/a
25	chr2:171671648-171671698	HRE	kidney:	n/a
26	chr2:171671648-171671698	AG04449	skin:	fetal
27	chr2:171671648-171671698	CMK	blood:	n/a
28	chr2:171671648-171671698	HL-60	blood:	n/a
29	chr2:171671648-171671698	GM19239	blood:	n/a
30	chr2:171671648-171671698	RPTEC	kidney:	n/a
31	chr2:171671648-171671698	BE2_C	brain:	n/a
32	chr2:171671648-171671698	Jurkat	blood:	n/a
33	chr2:171671648-171671698	SAEC	small airway:	n/a
34	chr2:171671648-171671698	HNPCEpiC	eye:	n/a
35	chr2:171671648-171671698	K562	blood:	n/a
36	chr2:171671648-171671698	HUVEC	blood vessel:	n/a
37	chr2:171671648-171671698	SK-N-SH_RA	brain:	n/a
38	chr2:171671648-171671698	MCF10A-Er-Src	breast:	n/a
39	chr2:171671648-171671698	T-47D	breast:	n/a
40	chr2:171671648-171671698	HCT-116	colon:	n/a
41	chr2:171671648-171671698	HRCEpiC	kidney:	n/a
42	chr2:171671648-171671698	LNCaP	prostate:	n/a
43	chr2:171671648-171671698	HPAEpiC	pulmonary alveolar:	n/a
44	chr2:171671648-171671698	HIPEpiC	eye:	n/a
45	chr2:171671648-171671698	GM06990	blood:	n/a
46	chr2:171671648-171671698	GM12878	blood:	n/a
47	chr2:171671648-171671698	NT2-D1	testis:	n/a
48	chr2:171671648-171671698	NB4	blood:	n/a
49	chr2:171671648-171671698	Caco-2	colon:	n/a
50	chr2:171671648-171671698	Hela-S3	cervix:	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:171671327..171674926-chr2:171677821..171681963,4	K562	blood:
2	chr2:171264048..171266072-chr2:171669517..171671938,2	MCF-7	breast:
3	chr2:171092620..171093414-chr2:171670841..171671812,2	MCF-7	breast:
4	chr2:171669367..171672253-chr2:171672351..171673917,2	K562	blood:
5	chr2:171671156..171674030-chr2:171674159..171676823,3	K562	blood:

Variant related genes	Relation type
GAD1	TF binding region
GAD1	CpG island
ENSG00000235934	Chromatin interaction
ENSG00000128683	Chromatin interaction
ENSG00000071909	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1978340	0.82[EUR][1000 genomes]
rs2883888	0.84[EUR][1000 genomes]
rs34137349	0.84[EUR][1000 genomes]
rs3762553	0.88[EUR][1000 genomes]
rs3762556	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3791871	0.84[EUR][1000 genomes]
rs3791872	0.84[EUR][1000 genomes]
rs3791878	0.93[EUR][1000 genomes]
rs56989102	0.85[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1806894	chr2:171651783-171679041	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:171669600-171672000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
2	chr2:171669600-171672000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
3	chr2:171669600-171672200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
4	chr2:171669600-171673000	Bivalent/Poised TSS	Fetal Brain Female	brain
5	chr2:171669600-171675400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
6	chr2:171669800-171672000	Bivalent/Poised TSS	Brain Anterior Caudate	brain
7	chr2:171670000-171672000	Bivalent Enhancer	Stomach Smooth Muscle	stomach
8	chr2:171670200-171676200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
9	chr2:171670400-171672000	Weak transcription	K562	blood
10	chr2:171670400-171676600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
11	chr2:171670600-171671800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
12	chr2:171670600-171672200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr2:171670600-171672600	Weak transcription	Gastric	stomach
14	chr2:171670800-171672000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr2:171670800-171672000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr2:171670800-171672000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr2:171671000-171672000	Bivalent Enhancer	Primary T cells from cord blood	blood
18	chr2:171671000-171672200	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
19	chr2:171671200-171672200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
20	chr2:171671200-171672400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
21	chr2:171671200-171672400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
22	chr2:171671200-171672400	Enhancers	Spleen	Spleen
23	chr2:171671200-171672800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
24	chr2:171671400-171671800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
25	chr2:171671400-171672200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
26	chr2:171671400-171672200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
27	chr2:171671400-171672600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
28	chr2:171671400-171675200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr2:171671400-171675400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
30	chr2:171671600-171671800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
31	chr2:171671600-171671800	Bivalent Enhancer	Lung	lung
32	chr2:171671600-171672000	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr2:171671600-171672000	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr2:171671600-171672000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
35	chr2:171671600-171672200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr2:171671600-171672200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr2:171671600-171672400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
38	chr2:171671600-171672400	Bivalent Enhancer	Fetal Thymus	thymus
39	chr2:171671600-171673400	Enhancers	Pancreas	Pancrea

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