Variant report

Variant	rs149463972
Chromosome Location	chr14:104312720-104312721
allele	G/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	POLR2A	chr14:104312515-104312946	K562	blood:	n/a	n/a
2	HCFC1	chr14:104312331-104314594	Hela-S3	cervix:	n/a	n/a
3	REST	chr14:104312509-104315008	H1-neurons	neurons:	n/a	chr14:104314017-104314030 chr14:104313951-104313964 chr14:104314832-104314845 chr14:104313836-104313845 chr14:104314605-104314618
4	SIN3AK20	chr14:104312701-104314543	MCF-7	breast:	n/a	n/a
5	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	chr14:104180818..104182685-chr14:104312303..104315136,2	MCF-7	breast:
3	chr14:104201896..104204456-chr14:104312035..104314445,3	MCF-7	breast:
4	chr14:104190172..104192468-chr14:104312606..104314249,2	MCF-7	breast:
5	chr10:38145874..38146756-chr14:104312524..104313161,2	Hela-S3	cervix:

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

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 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

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104304000-104312800	Weak transcription	Esophagus	oesophagus
2	chr14:104304000-104313000	Weak transcription	Spleen	Spleen
3	chr14:104305400-104312800	Weak transcription	Gastric	stomach
4	chr14:104309000-104312800	Weak transcription	Placenta	Placenta
5	chr14:104311000-104312800	Weak transcription	Pancreas	Pancrea
6	chr14:104311800-104313000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr14:104311800-104313000	Flanking Active TSS	NHEK	skin
8	chr14:104311800-104314600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr14:104311800-104314600	Active TSS	Right Atrium	heart
10	chr14:104312000-104315200	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr14:104312200-104312800	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr14:104312200-104312800	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr14:104312200-104312800	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr14:104312200-104312800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr14:104312200-104313200	Flanking Active TSS	Duodenum Mucosa	Duodenum
16	chr14:104312200-104313200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
17	chr14:104312200-104313400	Flanking Active TSS	HUVEC	blood vessel
18	chr14:104312200-104314200	Active TSS	Right Ventricle	heart
19	chr14:104312200-104314600	Bivalent/Poised TSS	Fetal Brain Female	brain
20	chr14:104312400-104312800	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
21	chr14:104312400-104312800	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
22	chr14:104312400-104312800	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr14:104312400-104312800	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr14:104312400-104312800	Bivalent Enhancer	Primary T cells from cord blood	blood
25	chr14:104312400-104312800	Enhancers	Primary T cells fromperipheralblood	blood
26	chr14:104312400-104312800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr14:104312400-104312800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr14:104312400-104312800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
29	chr14:104312400-104312800	Active TSS	Brain Angular Gyrus	brain
30	chr14:104312400-104312800	Flanking Active TSS	Brain Anterior Caudate	brain
31	chr14:104312400-104312800	Active TSS	Brain Substantia Nigra	brain
32	chr14:104312400-104312800	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
33	chr14:104312400-104312800	Bivalent Enhancer	Fetal Muscle Leg	muscle
34	chr14:104312400-104312800	Bivalent/Poised TSS	Fetal Stomach	stomach
35	chr14:104312400-104312800	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr14:104312400-104312800	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr14:104312400-104312800	Enhancers	Stomach Smooth Muscle	stomach
38	chr14:104312400-104313000	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
39	chr14:104312400-104313000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
40	chr14:104312400-104313000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
41	chr14:104312400-104313000	Enhancers	Primary B cells from peripheral blood	blood
42	chr14:104312400-104313000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr14:104312400-104313000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
44	chr14:104312400-104313000	Flanking Bivalent TSS/Enh	Fetal Kidney	kidney
45	chr14:104312400-104313000	Enhancers	Placenta Amnion	Placenta Amnion
46	chr14:104312400-104313000	Bivalent Enhancer	Dnd41	blood
47	chr14:104312400-104313000	Flanking Active TSS	Hela-S3	cervix
48	chr14:104312400-104313000	Flanking Active TSS	HMEC	breast
49	chr14:104312400-104313200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr14:104312400-104313200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood

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