Variant report

Variant	rs561251535
Chromosome Location	chr14:70077545-70077546
allele	C/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	MXI1	chr14:70076983-70080833	IMR90	lung:	n/a	chr14:70077063-70077078
2	POLR2A	chr14:70077545-70077713	HUVEC	blood vessel:	n/a	n/a
3	REST	chr14:70076933-70079378	H1-neurons	neurons:	n/a	chr14:70078837-70078850 chr14:70079296-70079309 chr14:70078771-70078789 chr14:70078864-70078877 chr14:70078774-70078787 chr14:70078867-70078880
4	BHLHE40	chr14:70077364-70077711	K562	blood:	n/a	n/a
5	RCOR1	chr14:70077078-70078894	K562	blood:	n/a	n/a
6	KAP1	chr14:70077187-70078140	HEK293	kidney:	n/a	n/a
7	POLR2A	chr14:70077513-70079172	H1-neurons	neurons:	n/a	n/a
8	NR2F2	chr14:70077461-70078084	K562	blood:	n/a	n/a
9	RCOR1	chr14:70077508-70078606	Hela-S3	cervix:	n/a	n/a
10	TCF7L2	chr14:70077451-70078145	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr14:70076913-70079729	Raji	blood:	n/a	n/a
12	ZNF263	chr14:70076952-70078183	HEK293-T-REx	kidney:	n/a	chr14:70077117-70077126
13	MXI1	chr14:70076939-70080246	SK-N-SH	brain:	n/a	chr14:70077063-70077078
14	MXI1	chr14:70077439-70080628	GM12878	blood:	n/a	n/a
15	POLR2A	chr14:70077401-70078770	H1-neurons	neurons:	n/a	n/a
16	POLR2A	chr14:70077532-70078626	SK-N-MC	brain:	n/a	n/a
17	NR2F2	chr14:70077466-70078181	MCF-7	breast:	n/a	n/a
18	MAZ	chr14:70077490-70079333	K562	blood:	n/a	chr14:70078788-70078798
19	POLR2A	chr14:70076990-70080743	IMR90	lung:	n/a	n/a
20	RCOR1	chr14:70077046-70077546	K562	blood:	n/a	n/a
21	MYC	chr14:70077425-70078619	K562	blood:	n/a	n/a
22	ZKSCAN1	chr14:70077391-70077555	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr14:70077463-70083420	GM12891	blood:	n/a	n/a
24	HCFC1	chr14:70077515-70078775	Hela-S3	cervix:	n/a	n/a
25	MAX	chr14:70077509-70079952	MCF-7	breast:	n/a	chr14:70078788-70078798 chr14:70079712-70079723
26	MAZ	chr14:70077016-70080004	IMR90	lung:	n/a	chr14:70078788-70078798 chr14:70079712-70079723
27	NRF1	chr14:70077448-70078609	SK-N-SH	brain:	n/a	chr14:70078483-70078492
28	HCFC1	chr14:70077415-70078700	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:70076728..70078237-chr14:70177828..70179629,2	MCF-7	breast:
2	chr14:70075659..70077569-chr14:70081813..70084609,2	K562	blood:
3	chr14:70075993..70078165-chr14:70168395..70170224,2	K562	blood:
4	chr14:70077094..70079754-chr14:70233044..70235632,2	K562	blood:
5	chr14:70075878..70078294-chr14:70112470..70114213,2	K562	blood:
6	chr14:70075993..70078093-chr14:70168395..70170520,2	K562	blood:
7	chr14:70076119..70078735-chr14:70193171..70195049,2	MCF-7	breast:

Variant related genes	Relation type
KIAA0247	TF binding region
ENSG00000100650	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049280	chr14:70036804-70172630	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv542124	chr14:70036804-70172630	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv3388575	chr14:70077224-70080072	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70076600-70077600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr14:70076600-70077600	Enhancers	Spleen	Spleen
3	chr14:70076600-70077800	Enhancers	Primary B cells from peripheral blood	blood
4	chr14:70076600-70077800	Flanking Active TSS	Primary T cells from cord blood	blood
5	chr14:70076800-70077600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr14:70076800-70077600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr14:70076800-70077600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr14:70076800-70077600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr14:70076800-70077600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
10	chr14:70076800-70077600	Enhancers	Fetal Intestine Large	intestine
11	chr14:70076800-70077600	Enhancers	Fetal Muscle Leg	muscle
12	chr14:70076800-70077800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr14:70076800-70077800	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr14:70076800-70078000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
15	chr14:70076800-70078000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
16	chr14:70076800-70078000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
17	chr14:70076800-70078000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
18	chr14:70076800-70078000	Flanking Active TSS	Dnd41	blood
19	chr14:70076800-70078000	Flanking Active TSS	NHDF-Ad	bronchial
20	chr14:70076800-70079200	Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr14:70077000-70077600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
22	chr14:70077000-70077600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr14:70077000-70077600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr14:70077000-70077600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr14:70077000-70077600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr14:70077000-70077600	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr14:70077000-70077600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr14:70077000-70077600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr14:70077000-70077600	Enhancers	Liver	Liver
30	chr14:70077000-70077600	Enhancers	Esophagus	oesophagus
31	chr14:70077000-70077600	Enhancers	Lung	lung
32	chr14:70077000-70077600	Flanking Active TSS	K562	blood
33	chr14:70077000-70077600	Flanking Active TSS	NHLF	lung
34	chr14:70077000-70077800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
35	chr14:70077000-70077800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr14:70077000-70077800	Flanking Active TSS	Brain Cingulate Gyrus	brain
37	chr14:70077000-70077800	Flanking Active TSS	Fetal Brain Male	brain
38	chr14:70077000-70077800	Flanking Active TSS	Fetal Brain Female	brain
39	chr14:70077000-70077800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
40	chr14:70077000-70077800	Flanking Active TSS	Stomach Smooth Muscle	stomach
41	chr14:70077000-70078000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
42	chr14:70077000-70078000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
43	chr14:70077000-70078000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
44	chr14:70077000-70078000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
45	chr14:70077000-70078000	Flanking Active TSS	GM12878-XiMat	blood
46	chr14:70077000-70078000	Flanking Active TSS	NHEK	skin
47	chr14:70077000-70078000	Flanking Active TSS	Osteobl	bone
48	chr14:70077000-70078200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr14:70077000-70078200	Flanking Active TSS	Adipose Nuclei	Adipose
50	chr14:70077000-70078400	Enhancers	Placenta Amnion	Placenta Amnion

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links