Variant report

Variant	rs35141059
Chromosome Location	chr14:21735234-21735235
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:19 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:21735091-21735260	GM12878	blood:	n/a	n/a
2	CHD1	chr14:21734912-21738567	IMR90	lung:	n/a	n/a
3	POLR2A	chr14:21734855-21735235	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr14:21735190-21738569	GM12891	blood:	n/a	n/a
5	POLR2A	chr14:21734631-21735248	MCF-7	breast:	n/a	n/a
6	POLR2A	chr14:21731378-21738564	GM12878	blood:	n/a	n/a
7	POLR2A	chr14:21734926-21735256	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr14:21728578-21737722	K562	blood:	n/a	n/a
9	CHD1	chr14:21735190-21737762	GM12878	blood:	n/a	n/a
10	POLR2A	chr14:21734906-21735240	GM12878	blood:	n/a	n/a
11	POLR2A	chr14:21731404-21735357	GM12878	blood:	n/a	n/a
12	CHD1	chr14:21735196-21737662	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr14:21732593-21735313	GM12892	blood:	n/a	n/a
14	POLR2A	chr14:21731555-21738535	GM18505	blood:	n/a	n/a
15	POLR2A	chr14:21733371-21735264	SK-N-MC	brain:	n/a	n/a
16	POLR2A	chr14:21734578-21735298	GM12891	blood:	n/a	n/a
17	POLR2A	chr14:21734859-21735330	HepG2	liver:	n/a	n/a
18	HEY1	chr14:21734709-21738544	HepG2	liver:	n/a	chr14:21737987-21738002
19	POLR2A	chr14:21731375-21738582	GM12892	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr14:21733893..21736248-chr14:21775936..21778469,3	K562	blood:
2	chr14:21731892..21738562-chr14:21850801..21854193,10	MCF-7	breast:
3	chr14:21687620..21689527-chr14:21733855..21735500,2	MCF-7	breast:
4	chr14:21734081..21737638-chr14:21753111..21756446,3	K562	blood:
5	chr14:21732396..21736856-chr14:21795995..21798414,4	K562	blood:

No data

Variant related genes	Relation type
HNRNPC	TF binding region
ENSG00000092200	Chromatin interaction
ENSG00000260830	Chromatin interaction
ENSG00000092201	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10131045	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10148280	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11156907	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12436255	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17197037	0.84[ASN][1000 genomes]
rs34293304	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4982434	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4982436	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4982438	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7141230	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7142590	0.84[AMR][1000 genomes]
rs7142957	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7147655	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7148026	0.85[AMR][1000 genomes]
rs7495	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs8009894	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8011312	0.80[AFR][1000 genomes]
rs8018410	0.88[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530009	chr14:21377022-22044608	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
2	nsv530769	chr14:21407536-22139126	Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
3	nsv916319	chr14:21507092-21896590	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv1036762	chr14:21507093-22101805	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
5	nsv541976	chr14:21507093-22101805	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
6	nsv530770	chr14:21526410-21852363	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers 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	57 gene(s)	inside rSNPs	diseases
7	nsv1043570	chr14:21575068-21899964	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
8	nsv541977	chr14:21575068-21899964	Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
9	nsv1048032	chr14:21602341-21847247	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
10	nsv541978	chr14:21602341-21847247	Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
11	nsv948957	chr14:21616875-21928338	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription 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
12	nsv901477	chr14:21625262-21750308	Genic enhancers Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
13	nsv901478	chr14:21626497-21750308	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
14	nsv1044822	chr14:21659344-21860081	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
15	nsv541979	chr14:21672540-21735893	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
16	nsv541980	chr14:21672540-21742729	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
17	nsv541982	chr14:21676221-21735893	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
18	nsv541983	chr14:21676221-21742729	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
19	esv1825348	chr14:21691941-21829404	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
20	nsv1051407	chr14:21692670-21907366	Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
21	nsv541984	chr14:21692670-21907366	Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
22	nsv530010	chr14:21692670-21923767	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
23	nsv541986	chr14:21692703-21735893	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
24	nsv541987	chr14:21692703-21742729	Transcr. at gene 5' and 3' Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
25	nsv541988	chr14:21696056-21735893	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
26	nsv541989	chr14:21696056-21742729	Enhancers Active TSS Genic enhancers Weak transcription Strong transcription 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	16 gene(s)	inside rSNPs	diseases
27	esv3357025	chr14:21702262-21737534	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
28	nsv541990	chr14:21702771-21757737	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
29	nsv428617	chr14:21721165-21871164	Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
30	nsv983804	chr14:21730434-21759672	Flanking Active TSS Genic enhancers Enhancers Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21702200-21735600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr14:21724200-21735600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr14:21728600-21737400	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
4	chr14:21729200-21735600	Genic enhancers	Primary B cells from peripheral blood	blood
5	chr14:21729200-21736800	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
6	chr14:21729800-21735400	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
7	chr14:21730200-21737600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
8	chr14:21730600-21735400	Genic enhancers	Primary monocytes fromperipheralblood	blood
9	chr14:21730600-21735400	Genic enhancers	Primary B cells from cord blood	blood
10	chr14:21730600-21736200	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr14:21730800-21736400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr14:21730800-21736800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr14:21731600-21736800	Transcr. at gene 5' and 3'	H1 Cell Line	embryonic stem cell
14	chr14:21731600-21737000	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
15	chr14:21731600-21737200	Transcr. at gene 5' and 3'	A549	lung
16	chr14:21731600-21737400	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
17	chr14:21731800-21735800	Genic enhancers	Primary neutrophils fromperipheralblood	blood
18	chr14:21731800-21736800	Transcr. at gene 5' and 3'	HUVEC	blood vessel
19	chr14:21731800-21737200	Transcr. at gene 5' and 3'	Dnd41	blood
20	chr14:21731800-21737400	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
21	chr14:21732000-21735800	Transcr. at gene 5' and 3'	HepG2	liver
22	chr14:21732000-21736800	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
23	chr14:21732200-21735400	Weak transcription	Fetal Kidney	kidney
24	chr14:21732600-21735400	Weak transcription	HSMMtube	muscle
25	chr14:21732800-21737200	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
26	chr14:21733000-21735400	Enhancers	Fetal Brain Male	brain
27	chr14:21733000-21735400	Genic enhancers	Fetal Muscle Trunk	muscle
28	chr14:21733000-21737600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr14:21733200-21735400	Enhancers	Brain Angular Gyrus	brain
30	chr14:21733600-21735600	Transcr. at gene 5' and 3'	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr14:21733600-21735800	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
32	chr14:21733600-21736200	Transcr. at gene 5' and 3'	Primary T helper cells fromperipheralblood	blood
33	chr14:21733600-21736800	Transcr. at gene 5' and 3'	Fetal Intestine Large	intestine
34	chr14:21733800-21736000	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr14:21733800-21736800	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr14:21733800-21736800	Transcr. at gene 5' and 3'	Osteobl	bone
37	chr14:21734000-21735400	Active TSS	iPS-15b Cell Line	embryonic stem cell
38	chr14:21734000-21735400	Weak transcription	Aorta	Aorta
39	chr14:21734000-21735600	Enhancers	Fetal Heart	heart
40	chr14:21734000-21735600	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr14:21734000-21737600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr14:21734000-21737800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr14:21734000-21738400	Active TSS	Right Ventricle	heart
44	chr14:21734000-21738600	Active TSS	Psoas Muscle	Psoas
45	chr14:21734200-21735400	Active TSS	ES-I3 Cell Line	embryonic stem cell
46	chr14:21734200-21735400	Enhancers	Colon Smooth Muscle	Colon
47	chr14:21734200-21735600	Active TSS	Rectal Mucosa Donor 29	rectum
48	chr14:21734200-21735600	Active TSS	K562	blood
49	chr14:21734200-21736200	Transcr. at gene 5' and 3'	NHEK	skin
50	chr14:21734200-21736400	Weak transcription	Small Intestine	intestine

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