Variant report

Variant	rs539748637
Chromosome Location	chr14:104313261-104313262
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	MAX	chr14:104313012-104314782	A549	lung:	n/a	chr14:104314387-104314397
2	STAT3	chr14:104312833-104313345	MCF10A-Er-Src	breast:	n/a	n/a
3	GABPA	chr14:104312992-104313456	H1-hESC	embryonic stem cell:	n/a	n/a
4	ZBTB7A	chr14:104313106-104313657	ECC-1	luminal epithelium:	n/a	n/a
5	SIN3A	chr14:104312733-104315025	H1-hESC	embryonic stem cell:	n/a	chr14:104314868-104314881 chr14:104314632-104314641 chr14:104314875-104314888 chr14:104314747-104314760 chr14:104314832-104314845
6	CCNT2	chr14:104313227-104314522	K562	blood:	n/a	chr14:104314109-104314118 chr14:104314016-104314025 chr14:104313952-104313961 chr14:104314028-104314037
7	POLR2A	chr14:104313039-104313273	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr14:104313168-104314637	MCF-7	breast:	n/a	n/a
9	HCFC1	chr14:104312331-104314594	Hela-S3	cervix:	n/a	n/a
10	ELF1	chr14:104313088-104314759	GM12878	blood:	n/a	chr14:104313861-104313870 chr14:104313858-104313867 chr14:104313854-104313866 chr14:104314101-104314113 chr14:104313857-104313869 chr14:104314100-104314109
11	YY1	chr14:104312987-104313283	A549	lung:	n/a	chr14:104313142-104313154
12	TCF12	chr14:104313082-104313607	ECC-1	luminal epithelium:	n/a	n/a
13	HMGN3	chr14:104313192-104313401	K562	blood:	n/a	n/a
14	YY1	chr14:104312950-104313280	H1-hESC	embryonic stem cell:	n/a	chr14:104313142-104313154
15	REST	chr14:104312509-104315008	H1-neurons	neurons:	n/a	chr14:104314017-104314030 chr14:104313951-104313964 chr14:104314832-104314845 chr14:104313836-104313845 chr14:104314605-104314618
16	POLR2A	chr14:104313253-104313425	GM12878	blood:	n/a	n/a
17	TBL1XR1	chr14:104313259-104313291	GM12878	blood:	n/a	n/a
18	POLR2A	chr14:104313259-104313319	K562	blood:	n/a	n/a
19	BHLHE40	chr14:104313258-104313291	K562	blood:	n/a	n/a
20	CHD2	chr14:104313144-104313337	Hela-S3	cervix:	n/a	n/a
21	MAX	chr14:104313001-104314547	Hela-S3	cervix:	n/a	chr14:104314387-104314397
22	RCOR1	chr14:104312949-104313322	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr14:104312914-104314377	H1-neurons	neurons:	n/a	n/a
24	POLR2A	chr14:104313017-104313328	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr14:104313158-104313431	GM12878	blood:	n/a	n/a
26	ZKSCAN1	chr14:104313000-104313359	Hela-S3	cervix:	n/a	n/a
27	SIN3AK20	chr14:104312701-104314543	MCF-7	breast:	n/a	n/a
28	CHD1	chr14:104313196-104313377	H1-hESC	embryonic stem cell:	n/a	n/a
29	MAX	chr14:104313089-104314695	ECC-1	luminal epithelium:	n/a	chr14:104314387-104314397
30	HA-E2F1	chr14:104313120-104314386	Hela-S3	cervix:	n/a	chr14:104314101-104314111 chr14:104314016-104314028 chr14:104314016-104314025 chr14:104313859-104313869 chr14:104313997-104314006 chr14:104313613-104313625 chr14:104313856-104313866 chr14:104313947-104313957 chr14:104313952-104313961 chr14:104314103-104314112
31	MAZ	chr14:104312780-104315206	IMR90	lung:	n/a	chr14:104314387-104314397
32	YY1	chr14:104312920-104313338	H1-hESC	embryonic stem cell:	n/a	chr14:104313142-104313154
33	MAX	chr14:104312843-104313782	MCF-7	breast:	n/a	n/a
34	YY1	chr14:104312988-104313309	SK-N-SH_RA	brain:	n/a	chr14:104313142-104313154
35	POLR2A	chr14:104312564-104313446	H1-neurons	neurons:	n/a	n/a
36	POLR2A	chr14:104313157-104313513	ECC-1	luminal epithelium:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:104313233-104313283	Caco-2	colon:	n/a
2	chr14:104313233-104313283	PANC-1	pancreas:	n/a
3	chr14:104313233-104313283	HRCEpiC	kidney:	n/a
4	chr14:104313233-104313283	LNCaP	prostate:	n/a
5	chr14:104313233-104313283	AG04450	lung:	fetal
6	chr14:104313233-104313283	AG09319	gingival:	n/a
7	chr14:104313233-104313283	U87	brain:	n/a
8	chr14:104313233-104313283	GM12878	blood:	n/a
9	chr14:104313233-104313283	HUVEC	blood vessel:	n/a
10	chr14:104313233-104313283	RPTEC	kidney:	n/a
11	chr14:104313233-104313283	HRPEpiC	eye:	n/a
12	chr14:104313233-104313283	T-47D	breast:	n/a
13	chr14:104313233-104313283	HIPEpiC	eye:	n/a
14	chr14:104313233-104313283	AoSMC	blood vessel:	n/a
15	chr14:104313233-104313283	PFSK-1	brain:	n/a
16	chr14:104313233-104313283	HCPEpiC	choroid plexus:	n/a
17	chr14:104313233-104313283	SK-N-SH	brain:	n/a
18	chr14:104313233-104313283	NB4	blood:	n/a
19	chr14:104313233-104313283	GM06990	blood:	n/a
20	chr14:104313233-104313283	A549	lung:	n/a
21	chr14:104313233-104313283	GM12892	blood:	n/a
22	chr14:104313233-104313283	GM12891	blood:	n/a
23	chr14:104313233-104313283	PrEC	prostate:	n/a
24	chr14:104313233-104313283	SKMC	muscle:	n/a
25	chr14:104313233-104313283	HNPCEpiC	eye:	n/a
26	chr14:104313233-104313283	Hepatocyte	liver:	n/a
27	chr14:104313233-104313283	MCF10A-Er-Src	breast:	n/a
28	chr14:104313233-104313283	HPAEpiC	pulmonary alveolar:	n/a
29	chr14:104313233-104313283	BE2_C	brain:	n/a
30	chr14:104313233-104313283	HCF	heart:	n/a
31	chr14:104313233-104313283	HEEpiC	esophagus:	n/a
32	chr14:104313233-104313283	MCF-7	breast:	n/a
33	chr14:104313233-104313283	HAEpiC	amniotic membrane:	n/a
34	chr14:104313233-104313283	HCT-116	colon:	n/a
35	chr14:104313233-104313283	Jurkat	blood:	n/a
36	chr14:104313233-104313283	NT2-D1	testis:	n/a
37	chr14:104313233-104313283	HMEC	breast:	n/a
38	chr14:104313233-104313283	HEK293	kidney:	embryo
39	chr14:104313233-104313283	HRE	kidney:	n/a
40	chr14:104313233-104313283	SK-N-SH_RA	brain:	n/a
41	chr14:104313233-104313283	BJ	skin:	n/a
42	chr14:104313233-104313283	ovcar-3	ovarian:	n/a
43	chr14:104313233-104313283	AG09309	skin:	n/a
44	chr14:104313233-104313283	HCM	heart:	n/a
45	chr14:104313233-104313283	NHDF-neo	bronchial:	n/a
46	chr14:104313233-104313283	H1-hESC	embryonic stem cell:	embryo
47	chr14:104313233-104313283	IMR90	lung:	fetal
48	chr14:104313233-104313283	SAEC	small airway:	n/a
49	chr14:104313233-104313283	SK-N-MC	brain:	n/a
50	chr14:104313233-104313283	AG04449	skin:	fetal

No.	Distal block	Cell Line	Cell type
1	chr14:104312474..104314028-chr14:104433639..104437208,3	MCF-7	breast:
2	chr14:104312778..104315212-chr14:104344720..104347233,3	MCF-7	breast:
3	chr14:104180818..104182685-chr14:104312303..104315136,2	MCF-7	breast:
4	chr14:104201896..104204456-chr14:104312035..104314445,3	MCF-7	breast:
5	chr14:104190172..104192468-chr14:104312606..104314249,2	MCF-7	breast:

Variant related genes	Relation type
PPP1R13B	TF binding region
LINC00637	TF binding region
LINC00637	CpG island
PPP1R13B	CpG island
ENSG00000100711	Chromatin interaction
ENSG00000156414	Chromatin interaction
ENSG00000258534	Chromatin interaction
ENSG00000088808	Chromatin interaction
ENSG00000126215	Chromatin interaction
ENSG00000253096	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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	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	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
3	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
4	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
5	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
6	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
7	nsv902318	chr14:104255083-104464809	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
8	nsv902319	chr14:104255083-104620077	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	64 gene(s)	inside rSNPs	diseases
9	esv1838047	chr14:104283104-104359121	Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
10	nsv902321	chr14:104283104-104378087	Strong transcription Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
11	esv1817657	chr14:104311251-104314960	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
12	esv20166	chr14:104312355-104315015	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
13	esv1818596	chr14:104312697-104359121	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
14	esv1836134	chr14:104312697-104359121	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
15	esv3326779	chr14:104312699-104314972	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
16	esv3407760	chr14:104312824-104315372	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104311800-104314600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
2	chr14:104311800-104314600	Active TSS	Right Atrium	heart
3	chr14:104312000-104315200	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr14:104312200-104313400	Flanking Active TSS	HUVEC	blood vessel
5	chr14:104312200-104314200	Active TSS	Right Ventricle	heart
6	chr14:104312200-104314600	Bivalent/Poised TSS	Fetal Brain Female	brain
7	chr14:104312400-104313400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
8	chr14:104312400-104313400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
9	chr14:104312400-104313400	Flanking Active TSS	Liver	Liver
10	chr14:104312400-104313400	Flanking Bivalent TSS/Enh	Fetal Brain Male	brain
11	chr14:104312400-104314400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr14:104312400-104314600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
13	chr14:104312400-104314600	Active TSS	Left Ventricle	heart
14	chr14:104312400-104314600	Active TSS	Lung	lung
15	chr14:104312400-104315000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
16	chr14:104312400-104315000	Active TSS	Psoas Muscle	Psoas
17	chr14:104312600-104313400	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr14:104312600-104313400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr14:104312600-104313400	Flanking Active TSS	Adipose Nuclei	Adipose
20	chr14:104312600-104313400	Flanking Active TSS	Colonic Mucosa	Colon
21	chr14:104312600-104313600	Flanking Bivalent TSS/Enh	Thymus	Thymus
22	chr14:104312600-104313800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr14:104312600-104314800	Active TSS	Sigmoid Colon	Sigmoid Colon
24	chr14:104312600-104315200	Active TSS	Ovary	ovary
25	chr14:104312800-104313400	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr14:104312800-104313400	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr14:104312800-104313400	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
28	chr14:104312800-104313400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
29	chr14:104312800-104313400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
30	chr14:104312800-104313400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
31	chr14:104312800-104313400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr14:104312800-104313400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
33	chr14:104312800-104313400	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
34	chr14:104312800-104313400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
35	chr14:104312800-104313400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
36	chr14:104312800-104313400	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
37	chr14:104312800-104313400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
38	chr14:104312800-104313400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
39	chr14:104312800-104313400	Flanking Active TSS	Stomach Smooth Muscle	stomach
40	chr14:104312800-104313400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
41	chr14:104312800-104313600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
42	chr14:104312800-104314400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr14:104312800-104314400	Active TSS	Aorta	Aorta
44	chr14:104312800-104314400	Active TSS	Gastric	stomach
45	chr14:104312800-104314600	Active TSS	Fetal Intestine Small	intestine
46	chr14:104312800-104314600	Active TSS	Pancreas	Pancrea
47	chr14:104312800-104314600	Active TSS	GM12878-XiMat	blood
48	chr14:104312800-104314800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr14:104312800-104314800	Active TSS	Esophagus	oesophagus
50	chr14:104312800-104315200	Active TSS	H9 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links