Variant report

Variant	rs3212067
Chromosome Location	chr14:104171768-104171769
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:39)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF7L2	chr14:104171571-104171778	MCF-7	breast:	n/a	n/a
2	POLR2A	chr14:104171426-104171814	GM12878	blood:	n/a	n/a
3	POLR2A	chr14:104171325-104172211	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr14:104171138-104174879	K562	blood:	n/a	n/a
5	POLR2A	chr14:104171277-104171844	HepG2	liver:	n/a	n/a
6	MYC	chr14:104171560-104171812	MCF-7	breast:	n/a	chr14:104171767-104171777
7	ZNF217	chr14:104171550-104171800	MCF-7	breast:	n/a	n/a
8	MAX	chr14:104171074-104172299	MCF-7	breast:	n/a	chr14:104171304-104171313 chr14:104171767-104171777
9	POLR2A	chr14:104171538-104172149	HUVEC	blood vessel:	n/a	n/a
10	POLR2A	chr14:104171382-104171841	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr14:104171502-104172168	MCF-7	breast:	n/a	n/a
12	POLR2A	chr14:104168207-104172054	GM12891	blood:	n/a	n/a
13	POLR2A	chr14:104171709-104172129	HUVEC	blood vessel:	n/a	n/a
14	POLR2A	chr14:104171124-104176699	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr14:104171473-104171770	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr14:104171389-104172780	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr14:104171434-104171863	GM12878	blood:	n/a	n/a
18	POLR2A	chr14:104170884-104171809	GM12892	blood:	n/a	n/a
19	HMGN3	chr14:104171527-104171790	K562	blood:	n/a	n/a
20	POLR2A	chr14:104171377-104173101	GM12878	blood:	n/a	n/a
21	POLR2A	chr14:104171613-104171770	A549	lung:	n/a	n/a
22	POLR2A	chr14:104171375-104172138	GM12891	blood:	n/a	n/a
23	POLR2A	chr14:104171349-104172705	HL-60	blood:	n/a	n/a
24	POLR2A	chr14:104171426-104171821	GM12891	blood:	n/a	n/a
25	POLR2A	chr14:104171347-104172125	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr14:104171144-104172342	MCF-7	breast:	n/a	n/a
27	POLR2A	chr14:104171540-104171896	ProgFib	skin:	n/a	n/a
28	POLR2A	chr14:104171111-104173462	K562	blood:	n/a	n/a
29	POLR2A	chr14:104171101-104172737	GM12892	blood:	n/a	n/a
30	MAX	chr14:104171423-104172061	MCF-7	breast:	n/a	chr14:104171767-104171777
31	POLR2A	chr14:104161532-104176510	SK-N-MC	brain:	n/a	n/a
32	POLR2A	chr14:104170861-104172075	U87	brain:	n/a	n/a
33	POLR2A	chr14:104171574-104173215	GM18951	blood:	n/a	n/a
34	MYC	chr14:104171620-104171781	MCF-7	breast:	n/a	chr14:104171767-104171777
35	POLR2A	chr14:104158357-104176753	K562	blood:	n/a	n/a
36	POLR2A	chr14:104171152-104172659	GM12878	blood:	n/a	n/a
37	FOS	chr14:104171479-104172163	HUVEC	blood vessel:	n/a	chr14:104171575-104171586
38	NR2F2	chr14:104171324-104172801	MCF-7	breast:	n/a	n/a
39	POLR2A	chr14:104171679-104172226	HUVEC	blood vessel:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:104146923..104148909-chr14:104171106..104173857,2	K562	blood:
2	chr14:104093558..104096899-chr14:104170639..104176222,7	MCF-7	breast:
3	chr14:104092924..104097008-chr14:104171636..104177946,5	K562	blood:
4	chr14:104151812..104156751-chr14:104171759..104176142,6	K562	blood:
5	chr1:149857743..149859653-chr14:104171587..104173631,2	MCF-7	breast:

No data

Variant related genes	Relation type
XRCC3	TF binding region
ENSG00000270108	Chromatin interaction
ENSG00000126214	Chromatin interaction
ENSG00000184260	Chromatin interaction
ENSG00000184678	Chromatin interaction
ENSG00000184270	Chromatin interaction
ENSG00000178096	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs17101741	0.87[AFR][1000 genomes]
rs17101752	1.00[AFR][1000 genomes]
rs3212057	1.00[AFR][1000 genomes]
rs3212096	0.94[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3332028	chr14:103581471-104328811	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
2	nsv902300	chr14:103967504-104205811	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
3	nsv1052010	chr14:104061472-104216267	Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	nsv542201	chr14:104061472-104216267	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
5	nsv456435	chr14:104061646-104198251	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
6	nsv566023	chr14:104061646-104198251	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
7	nsv902308	chr14:104087209-104211180	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
8	nsv1041329	chr14:104097750-104196346	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
9	nsv542202	chr14:104097750-104196346	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
10	nsv1048866	chr14:104100862-104195896	Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
11	nsv1045162	chr14:104140525-104594841	Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
12	nsv542204	chr14:104140525-104594841	Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
13	nsv1041347	chr14:104141217-104186372	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
14	nsv902309	chr14:104143385-104198251	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
15	nsv902310	chr14:104143385-104205811	Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
16	esv2758368	chr14:104147525-104412813	Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
17	esv2760013	chr14:104147525-104412813	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
18	nsv902311	chr14:104148339-104205811	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
19	nsv902312	chr14:104155317-104211180	Strong transcription Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
20	esv1796914	chr14:104159882-104181369	Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
21	nsv527425	chr14:104162263-104198251	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
22	nsv470673	chr14:104162263-104219949	Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
23	nsv902313	chr14:104162263-104378087	Bivalent Enhancer Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
24	nsv902315	chr14:104165927-104190527	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104117800-104176000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr14:104118800-104175600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr14:104119200-104173000	Strong transcription	Primary T helper cells fromperipheralblood	blood
4	chr14:104119400-104175200	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr14:104120000-104177000	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr14:104133400-104177200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr14:104135600-104177600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr14:104146200-104174800	Weak transcription	K562	blood
9	chr14:104152600-104178600	Weak transcription	Small Intestine	intestine
10	chr14:104158400-104178000	Strong transcription	Dnd41	blood
11	chr14:104158600-104176400	Strong transcription	H9 Cell Line	embryonic stem cell
12	chr14:104159800-104176200	Strong transcription	Sigmoid Colon	Sigmoid Colon
13	chr14:104161000-104176600	Genic enhancers	Spleen	Spleen
14	chr14:104161200-104180000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr14:104161200-104180400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr14:104162400-104172400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr14:104162800-104177200	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr14:104163400-104172600	Genic enhancers	Fetal Muscle Trunk	muscle
19	chr14:104163400-104176800	Strong transcription	H1 Cell Line	embryonic stem cell
20	chr14:104163400-104177200	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr14:104163600-104176200	Strong transcription	Osteobl	bone
22	chr14:104163600-104177200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr14:104163600-104177600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr14:104163800-104176200	Strong transcription	Fetal Brain Female	brain
25	chr14:104164000-104171800	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr14:104164000-104172000	Weak transcription	Fetal Kidney	kidney
27	chr14:104164000-104176000	Strong transcription	Cortex derived primary cultured neurospheres	brain
28	chr14:104164000-104176600	Strong transcription	Brain Germinal Matrix	brain
29	chr14:104164200-104175200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr14:104164200-104176800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
31	chr14:104164200-104178600	Weak transcription	Fetal Heart	heart
32	chr14:104164400-104172800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr14:104164400-104174600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr14:104164400-104177400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr14:104165200-104177000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr14:104165400-104172400	Strong transcription	Fetal Stomach	stomach
37	chr14:104165400-104174600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr14:104165400-104177200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
39	chr14:104165400-104180400	Strong transcription	Thymus	Thymus
40	chr14:104165600-104172000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr14:104165600-104174800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr14:104165800-104172800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr14:104165800-104174800	Strong transcription	NHEK	skin
44	chr14:104165800-104175000	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr14:104165800-104175200	Strong transcription	Colonic Mucosa	Colon
46	chr14:104165800-104176800	Strong transcription	Fetal Thymus	thymus
47	chr14:104166800-104175800	Strong transcription	Duodenum Mucosa	Duodenum
48	chr14:104166800-104176000	Strong transcription	NHLF	lung
49	chr14:104167000-104172400	Strong transcription	Primary T cells fromperipheralblood	blood
50	chr14:104167000-104174800	Strong transcription	Muscle Satellite Cultured Cells	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links