Variant report

Variant	rs1958085
Chromosome Location	chr14:70235278-70235279
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:46)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:70235230-70236051	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr14:70233212-70235962	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr14:70233138-70235911	U87	brain:	n/a	n/a
4	POLR2A	chr14:70233282-70236036	GM12878	blood:	n/a	n/a
5	HEY1	chr14:70233437-70235979	K562	blood:	n/a	n/a
6	HEY1	chr14:70233126-70235396	HepG2	liver:	n/a	n/a
7	POLR2A	chr14:70233202-70235953	GM12878	blood:	n/a	n/a
8	POLR2A	chr14:70233339-70235861	GM12892	blood:	n/a	n/a
9	POLR2A	chr14:70233373-70249048	K562	blood:	n/a	n/a
10	POLR2A	chr14:70233355-70236056	HepG2	liver:	n/a	n/a
11	POLR2A	chr14:70233089-70236021	IMR90	lung:	n/a	n/a
12	POLR2A	chr14:70235043-70235516	U87	brain:	n/a	n/a
13	POLR2A	chr14:70235157-70235725	HCT-116	colon:	n/a	n/a
14	POLR2A	chr14:70235224-70235812	GM12892	blood:	n/a	n/a
15	POLR2A	chr14:70233252-70235924	PBDE	blood:	n/a	n/a
16	POLR2A	chr14:70233152-70236900	GM12878	blood:	n/a	n/a
17	POLR2A	chr14:70233726-70236740	A549	lung:	n/a	n/a
18	POLR2A	chr14:70233376-70235950	GM12891	blood:	n/a	n/a
19	POLR2A	chr14:70233258-70236927	Hela-S3	cervix:	n/a	n/a
20	MAZ	chr14:70233093-70235356	IMR90	lung:	n/a	chr14:70234517-70234527
21	POLR2A	chr14:70233271-70235612	MCF10A-Er-Src	breast:	n/a	n/a
22	POLR2A	chr14:70233276-70235899	SK-N-MC	brain:	n/a	n/a
23	POLR2A	chr14:70233167-70236754	GM12891	blood:	n/a	n/a
24	POLR2A	chr14:70235232-70235686	HepG2	liver:	n/a	n/a
25	POLR2A	chr14:70233334-70235459	GM18505	blood:	n/a	n/a
26	POLR2A	chr14:70233605-70249548	HepG2	liver:	n/a	n/a
27	CHD1	chr14:70233097-70242136	IMR90	lung:	n/a	chr14:70234450-70234459
28	POLR2A	chr14:70235214-70236076	HUVEC	blood vessel:	n/a	n/a
29	POLR2A	chr14:70233212-70235824	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chr14:70233132-70235974	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr14:70233332-70235897	GM12891	blood:	n/a	n/a
32	TBL1XR1	chr14:70234293-70235310	K562	blood:	n/a	n/a
33	POLR2A	chr14:70233428-70235412	GM12891	blood:	n/a	n/a
34	POLR2A	chr14:70232851-70235904	HepG2	liver:	n/a	n/a
35	POLR2A	chr14:70233454-70235916	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr14:70233250-70236806	HepG2	liver:	n/a	n/a
37	WRNIP1	chr14:70233183-70235865	GM12878	blood:	n/a	n/a
38	POLR2A	chr14:70235145-70235764	GM12892	blood:	n/a	n/a
39	SIN3AK20	chr14:70233205-70235451	MCF-7	breast:	n/a	n/a
40	POLR2A	chr14:70233132-70235911	U87	brain:	n/a	n/a
41	POLR2A	chr14:70233306-70235918	MCF-7	breast:	n/a	n/a
42	TAL1	chr14:70233516-70235363	K562	blood:	n/a	chr14:70233603-70233618 chr14:70233603-70233618 chr14:70233603-70233618
43	POLR2A	chr14:70233244-70235897	K562	blood:	n/a	n/a
44	HCFC1	chr14:70233147-70235342	Hela-S3	cervix:	n/a	n/a
45	GATA2	chr14:70234457-70235300	HUVEC	blood vessel:	n/a	n/a
46	POLR2A	chr14:70233277-70241975	GM12878	blood:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:70232881..70235770-chr14:70270700..70273092,2	MCF-7	breast:
2	chr14:70233420..70235715-chr14:70270936..70274519,3	MCF-7	breast:
3	chr14:69864148..69866880-chr14:70234778..70237310,2	MCF-7	breast:
4	chr14:70233896..70235406-chr20:60696525..60698329,2	MCF-7	breast:
5	chr14:68140783..68142478-chr14:70233794..70235436,2	MCF-7	breast:
6	chr14:70077771..70080127-chr14:70232780..70235719,3	MCF-7	breast:
7	chr14:70232739..70236319-chr14:70264002..70267714,4	MCF-7	breast:
8	chr14:70077094..70079754-chr14:70233044..70235632,2	K562	blood:
9	chr14:70232810..70235786-chr14:71065753..71068797,4	MCF-7	breast:

No data

Variant related genes	Relation type
SRSF5	TF binding region
ENSG00000100652	Chromatin interaction
ENSG00000100632	Chromatin interaction
ENSG00000133997	Chromatin interaction
ENSG00000149657	Chromatin interaction
ENSG00000100647	Chromatin interaction
ENSG00000029364	Chromatin interaction
ENSG00000100568	Chromatin interaction
ENSG00000221060	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs55663855	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58458032	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60401303	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61343418	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73283349	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73283383	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73285211	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74060546	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 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	chr14:70233200-70235400	Active TSS	Right Atrium	heart
2	chr14:70233200-70236000	Transcr. at gene 5' and 3'	Primary T helper memory cells from peripheral blood 1	blood
3	chr14:70233200-70236200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr14:70233400-70235400	Active TSS	Pancreas	Pancrea
5	chr14:70233600-70235400	Active TSS	Gastric	stomach
6	chr14:70233800-70235800	Transcr. at gene 5' and 3'	Primary T helper cells fromperipheralblood	blood
7	chr14:70233800-70236000	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
8	chr14:70233800-70236400	Transcr. at gene 5' and 3'	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr14:70233800-70236600	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
10	chr14:70233800-70236800	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
11	chr14:70233800-70236800	Transcr. at gene 5' and 3'	Duodenum Smooth Muscle	Duodenum
12	chr14:70233800-70237600	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
13	chr14:70234000-70236600	Transcr. at gene 5' and 3'	Dnd41	blood
14	chr14:70234000-70236800	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
15	chr14:70234200-70236800	Transcr. at gene 5' and 3'	Skeletal Muscle Female	skeletal muscle
16	chr14:70234400-70236800	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr14:70234600-70235600	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
18	chr14:70234600-70235800	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr14:70234600-70235800	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
20	chr14:70234600-70235800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr14:70234600-70235800	Transcr. at gene 5' and 3'	Fetal Lung	lung
22	chr14:70234600-70235800	Transcr. at gene 5' and 3'	A549	lung
23	chr14:70234600-70236000	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr14:70234600-70236000	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
25	chr14:70234600-70236000	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
26	chr14:70234600-70236000	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 31	rectum
27	chr14:70234600-70236000	Transcr. at gene 5' and 3'	Osteobl	bone
28	chr14:70234600-70236400	Transcr. at gene 5' and 3'	NHEK	skin
29	chr14:70234600-70236600	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr14:70234600-70236800	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr14:70234600-70237200	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr14:70234600-70237400	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr14:70234800-70235400	Transcr. at gene 5' and 3'	Primary B cells from peripheral blood	blood
34	chr14:70234800-70235400	Transcr. at gene 5' and 3'	Primary Natural Killer cells fromperipheralblood	blood
35	chr14:70234800-70235400	Transcr. at gene 5' and 3'	Fetal Muscle Leg	muscle
36	chr14:70234800-70235400	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
37	chr14:70234800-70235600	Transcr. at gene 5' and 3'	ES-I3 Cell Line	embryonic stem cell
38	chr14:70234800-70235600	Transcr. at gene 5' and 3'	Primary B cells from cord blood	blood
39	chr14:70234800-70235600	Transcr. at gene 5' and 3'	Primary mononuclear cells fromperipheralblood	Blood
40	chr14:70234800-70235600	Transcr. at gene 5' and 3'	Sigmoid Colon	Sigmoid Colon
41	chr14:70234800-70235800	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
42	chr14:70234800-70235800	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
43	chr14:70234800-70235800	Transcr. at gene 5' and 3'	Primary T helper memory cells from peripheral blood 2	blood
44	chr14:70234800-70235800	Transcr. at gene 5' and 3'	Primary T killer naive cells fromperipheralblood	blood
45	chr14:70234800-70235800	Transcr. at gene 5' and 3'	Liver	Liver
46	chr14:70234800-70235800	Transcr. at gene 5' and 3'	Brain Angular Gyrus	brain
47	chr14:70234800-70235800	Transcr. at gene 5' and 3'	Fetal Adrenal Gland	Adrenal Gland
48	chr14:70234800-70235800	Transcr. at gene 5' and 3'	Fetal Intestine Large	intestine
49	chr14:70234800-70235800	Transcr. at gene 5' and 3'	Fetal Kidney	kidney
50	chr14:70234800-70235800	Transcr. at gene 5' and 3'	Fetal Thymus	thymus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links