Variant report

Variant	rs72712830
Chromosome Location	chr14:104313117-104313118
allele	A/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	POLR2A	chr14:104313039-104313273	MCF10A-Er-Src	breast:	n/a	n/a
7	HCFC1	chr14:104312331-104314594	Hela-S3	cervix:	n/a	n/a
8	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
9	YY1	chr14:104312987-104313283	A549	lung:	n/a	chr14:104313142-104313154
10	TCF12	chr14:104313082-104313607	ECC-1	luminal epithelium:	n/a	n/a
11	STAT3	chr14:104312792-104313205	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr14:104312921-104313216	MCF10A-Er-Src	breast:	n/a	n/a
13	YY1	chr14:104312950-104313280	H1-hESC	embryonic stem cell:	n/a	chr14:104313142-104313154
14	REST	chr14:104312509-104315008	H1-neurons	neurons:	n/a	chr14:104314017-104314030 chr14:104313951-104313964 chr14:104314832-104314845 chr14:104313836-104313845 chr14:104314605-104314618
15	FOS	chr14:104312959-104313152	MCF10A-Er-Src	breast:	n/a	n/a
16	MAX	chr14:104313001-104314547	Hela-S3	cervix:	n/a	chr14:104314387-104314397
17	RCOR1	chr14:104312949-104313322	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr14:104312914-104314377	H1-neurons	neurons:	n/a	n/a
19	POLR2A	chr14:104313017-104313328	Hela-S3	cervix:	n/a	n/a
20	MYC	chr14:104313087-104313233	MCF10A-Er-Src	breast:	n/a	n/a
21	ZKSCAN1	chr14:104313000-104313359	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr14:104312919-104313173	HepG2	liver:	n/a	n/a
23	SIN3AK20	chr14:104312701-104314543	MCF-7	breast:	n/a	n/a
24	MAX	chr14:104313089-104314695	ECC-1	luminal epithelium:	n/a	chr14:104314387-104314397
25	MAZ	chr14:104312780-104315206	IMR90	lung:	n/a	chr14:104314387-104314397
26	YY1	chr14:104312920-104313338	H1-hESC	embryonic stem cell:	n/a	chr14:104313142-104313154
27	MAX	chr14:104312843-104313782	MCF-7	breast:	n/a	n/a
28	YY1	chr14:104312988-104313309	SK-N-SH_RA	brain:	n/a	chr14:104313142-104313154
29	STAT3	chr14:104312887-104313226	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chr14:104312564-104313446	H1-neurons	neurons:	n/a	n/a

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:
6	chr10:38145874..38146756-chr14:104312524..104313161,2	Hela-S3	cervix:

Variant related genes	Relation type
LINC00637	TF binding region
ENSG00000253096	Chromatin interaction
ENSG00000156414	Chromatin interaction
ENSG00000126215	Chromatin interaction
ENSG00000258534	Chromatin interaction
ENSG00000198105	Chromatin interaction
ENSG00000088808	Chromatin interaction
ENSG00000100711	Chromatin interaction
ENSG00000236514	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12896812	0.95[EUR][1000 genomes]
rs35011467	1.00[AMR][1000 genomes]
rs35290797	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

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:127 , 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	chr14:104312200-104313200	Flanking Active TSS	Duodenum Mucosa	Duodenum
5	chr14:104312200-104313200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
6	chr14:104312200-104313400	Flanking Active TSS	HUVEC	blood vessel
7	chr14:104312200-104314200	Active TSS	Right Ventricle	heart
8	chr14:104312200-104314600	Bivalent/Poised TSS	Fetal Brain Female	brain
9	chr14:104312400-104313200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr14:104312400-104313200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
11	chr14:104312400-104313200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
12	chr14:104312400-104313200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
13	chr14:104312400-104313200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
14	chr14:104312400-104313200	Flanking Bivalent TSS/Enh	NH-A	brain
15	chr14:104312400-104313400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
16	chr14:104312400-104313400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
17	chr14:104312400-104313400	Flanking Active TSS	Liver	Liver
18	chr14:104312400-104313400	Flanking Bivalent TSS/Enh	Fetal Brain Male	brain
19	chr14:104312400-104314400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr14:104312400-104314600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
21	chr14:104312400-104314600	Active TSS	Left Ventricle	heart
22	chr14:104312400-104314600	Active TSS	Lung	lung
23	chr14:104312400-104315000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
24	chr14:104312400-104315000	Active TSS	Psoas Muscle	Psoas
25	chr14:104312600-104313200	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr14:104312600-104313200	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
27	chr14:104312600-104313200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
28	chr14:104312600-104313200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
29	chr14:104312600-104313200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
30	chr14:104312600-104313200	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
31	chr14:104312600-104313200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
32	chr14:104312600-104313200	Flanking Active TSS	Colon Smooth Muscle	Colon
33	chr14:104312600-104313200	Flanking Active TSS	Rectal Smooth Muscle	rectum
34	chr14:104312600-104313400	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr14:104312600-104313400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr14:104312600-104313400	Flanking Active TSS	Adipose Nuclei	Adipose
37	chr14:104312600-104313400	Flanking Active TSS	Colonic Mucosa	Colon
38	chr14:104312600-104313600	Flanking Bivalent TSS/Enh	Thymus	Thymus
39	chr14:104312600-104313800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr14:104312600-104314800	Active TSS	Sigmoid Colon	Sigmoid Colon
41	chr14:104312600-104315200	Active TSS	Ovary	ovary
42	chr14:104312800-104313200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
43	chr14:104312800-104313200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr14:104312800-104313200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr14:104312800-104313200	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr14:104312800-104313200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr14:104312800-104313200	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
48	chr14:104312800-104313200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
49	chr14:104312800-104313200	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr14:104312800-104313200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin

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