Variant report

Variant	rs2242987
Chromosome Location	chr5:76114024-76114025
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	RAD21	chr5:76113984-76114237	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr5:76114000-76114150	HepG2	liver:	n/a	chr5:76114103-76114112
3	CTCF	chr5:76113940-76114090	GM12875	blood:	n/a	n/a
4	ZNF143	chr5:76113987-76115022	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr5:76114020-76114170	GM06990	blood:	n/a	chr5:76114103-76114112
6	CTCF	chr5:76114000-76114150	GM12865	blood:	n/a	chr5:76114103-76114112
7	CTCF	chr5:76114020-76114170	GM12871	blood:	n/a	chr5:76114103-76114112
8	CTCF	chr5:76114020-76114170	HMF	breast:	n/a	chr5:76114103-76114112
9	CTCF	chr5:76114020-76114170	GM12865	blood:	n/a	chr5:76114103-76114112
10	CTCF	chr5:76114020-76114170	HRPEpiC	eye:	n/a	chr5:76114103-76114112
11	CTCF	chr5:76114000-76114150	HUVEC	blood vessel:	n/a	chr5:76114103-76114112
12	CTCF	chr5:76114000-76114150	K562	blood:	n/a	chr5:76114103-76114112
13	CTCF	chr5:76114020-76114170	HMEC	breast:	n/a	chr5:76114103-76114112
14	CTCF	chr5:76114000-76114150	RPTEC	kidney:	n/a	chr5:76114103-76114112
15	CTCF	chr5:76114000-76114150	GM12869	blood:	n/a	chr5:76114103-76114112
16	CTCF	chr5:76113980-76114130	GM12872	blood:	n/a	chr5:76114103-76114112
17	CTCF	chr5:76114000-76114150	GM12864	blood:	n/a	chr5:76114103-76114112
18	CTCF	chr5:76114000-76114150	AG09309	skin:	n/a	chr5:76114103-76114112
19	CTCF	chr5:76113960-76114110	AG04450	lung:	n/a	n/a
20	CTCF	chr5:76114000-76114150	HPAF	blood vessel:	n/a	chr5:76114103-76114112
21	CTCF	chr5:76114000-76114150	HCM	heart:	n/a	chr5:76114103-76114112
22	CTCF	chr5:76113960-76114110	BE2_C	brain:	n/a	n/a
23	RAD21	chr5:76114017-76114217	H1-hESC	embryonic stem cell:	n/a	n/a
24	CTCF	chr5:76114000-76114150	NHEK	skin:	n/a	chr5:76114103-76114112
25	CTCF	chr5:76114003-76114198	H1-hESC	embryonic stem cell:	n/a	chr5:76114103-76114112
26	CTCF	chr5:76114000-76114150	HAc	cerebellar:	n/a	chr5:76114103-76114112
27	CTCF	chr5:76114000-76114150	HFF	foreskin:	n/a	chr5:76114103-76114112
28	CTCF	chr5:76114020-76114170	GM12878	blood:	n/a	chr5:76114103-76114112
29	CTCF	chr5:76114020-76114170	NHEK	skin:	n/a	chr5:76114103-76114112
30	CTCF	chr5:76113960-76114110	AG09319	gingival:	n/a	n/a
31	CTCF	chr5:76114020-76114170	AG04449	skin:	n/a	chr5:76114103-76114112
32	RAD21	chr5:76113955-76114307	H1-hESC	embryonic stem cell:	n/a	n/a
33	CTCF	chr5:76114020-76114170	SK-N-SH_RA	brain:	n/a	chr5:76114103-76114112
34	TCF12	chr5:76113809-76117037	A549	lung:	n/a	chr5:76115472-76115481
35	CTCF	chr5:76113980-76114130	HFF-Myc	foreskin:	n/a	chr5:76114103-76114112
36	CTCF	chr5:76114000-76114150	SK-N-SH_RA	brain:	n/a	chr5:76114103-76114112
37	CTCF	chr5:76114020-76114170	HCT-116	colon:	n/a	chr5:76114103-76114112
38	CTCF	chr5:76114020-76114170	HA-sp	spinal cord:	n/a	chr5:76114103-76114112
39	ARID3A	chr5:76113989-76114292	HepG2	liver:	n/a	n/a
40	CTCF	chr5:76114000-76114150	HCT-116	colon:	n/a	chr5:76114103-76114112
41	CTCF	chr5:76113792-76115556	A549	lung:	n/a	chr5:76114785-76114795 chr5:76114693-76114706 chr5:76114696-76114709 chr5:76114103-76114112
42	CTCF	chr5:76114020-76114170	MCF-7	breast:	n/a	chr5:76114103-76114112
43	ATF2	chr5:76113947-76114568	H1-hESC	embryonic stem cell:	n/a	n/a
44	RAD21	chr5:76113966-76114224	A549	lung:	n/a	n/a
45	CTCF	chr5:76114000-76114150	GM12873	blood:	n/a	chr5:76114103-76114112
46	CTCF	chr5:76114020-76114170	HRE	kidney:	n/a	chr5:76114103-76114112
47	CTCF	chr5:76113968-76114265	IMR90	lung:	n/a	chr5:76114103-76114112
48	CTCF	chr5:76113980-76114130	GM12874	blood:	n/a	chr5:76114103-76114112
49	CTCF	chr5:76114000-76114150	AoAF	blood vessel:	n/a	chr5:76114103-76114112
50	CTCF	chr5:76113980-76114130	GM12873	blood:	n/a	chr5:76114103-76114112

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:76110973..76114089-chr5:76116480..76119427,3	K562	blood:
2	chr5:76113078..76116046-chr5:76145704..76148210,2	K562	blood:

Variant related genes	Relation type
F2RL1	TF binding region
ENSG00000171643	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs2242994	1.00[AMR][1000 genomes]
rs2242996	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2243011	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2243013	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2243038	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2243061	1.00[AMR][1000 genomes]
rs2243062	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2243063	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2243069	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7714226	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019669	chr5:75836365-76477788	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1015997	chr5:76079720-76129241	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1031491	chr5:76083382-76129241	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv2763908	chr5:76083394-76134777	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Genic enhancers 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	5 gene(s)	inside rSNPs	diseases
5	nsv598683	chr5:76086597-76129053	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv882210	chr5:76086597-76140337	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1022431	chr5:76086795-76127170	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1020397	chr5:76086795-76129241	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv598684	chr5:76086795-76130113	Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv1025151	chr5:76086795-76134777	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv1025061	chr5:76087544-76129241	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv1033086	chr5:76088861-76129241	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv1021460	chr5:76089512-76129241	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv1018194	chr5:76090951-76129241	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
15	nsv598685	chr5:76092225-76128521	Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
16	nsv882211	chr5:76100536-76125577	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:76102600-76114400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:76105400-76114200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr5:76109400-76114200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr5:76110200-76114200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr5:76110200-76114400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr5:76110200-76114400	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr5:76110400-76114200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr5:76110400-76114400	Weak transcription	NHLF	lung
9	chr5:76110600-76114200	Weak transcription	HUVEC	blood vessel
10	chr5:76112400-76114400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr5:76113000-76114200	Weak transcription	Hela-S3	cervix
12	chr5:76113200-76114200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr5:76113200-76114200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr5:76113200-76114200	Weak transcription	HMEC	breast
15	chr5:76113600-76114400	Enhancers	Stomach Mucosa	stomach
16	chr5:76113800-76114200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr5:76113800-76114200	Bivalent/Poised TSS	Primary T cells from cord blood	blood
18	chr5:76113800-76114400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr5:76114000-76114200	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr5:76114000-76114200	Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr5:76114000-76114200	Active TSS	Primary hematopoietic stem cells	blood
22	chr5:76114000-76114200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr5:76114000-76114200	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr5:76114000-76114200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr5:76114000-76114200	Bivalent/Poised TSS	Primary T helper 17 cells PMA-I stimulated	--
26	chr5:76114000-76114200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
27	chr5:76114000-76114200	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
28	chr5:76114000-76114200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr5:76114000-76114200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr5:76114000-76114200	Enhancers	Fetal Intestine Large	intestine
31	chr5:76114000-76114200	Enhancers	Fetal Intestine Small	intestine
32	chr5:76114000-76114200	Enhancers	Placenta	Placenta
33	chr5:76114000-76114200	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr5:76114000-76114200	Enhancers	HepG2	liver
35	chr5:76114000-76114200	Genic enhancers	NH-A	brain
36	chr5:76114000-76114400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
37	chr5:76114000-76114400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
38	chr5:76114000-76114400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
39	chr5:76114000-76114600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
40	chr5:76114000-76114600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr5:76114000-76114600	Flanking Active TSS	A549	lung
42	chr5:76114000-76114600	Flanking Active TSS	NHEK	skin
43	chr5:76114000-76115200	Active TSS	H1 Cell Line	embryonic stem cell
44	chr5:76114000-76116000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
45	chr5:76114000-76116200	Active TSS	HUES48 Cell Line	embryonic stem cell
46	chr5:76114000-76117000	Active TSS	ES-I3 Cell Line	embryonic stem cell

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