Variant report

Variant	rs369484330
Chromosome Location	chr14:104313487-104313488
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	MAX	chr14:104313012-104314782	A549	lung:	n/a	chr14:104314387-104314397
2	ZBTB7A	chr14:104313388-104313534	K562	blood:	n/a	n/a
3	ZBTB7A	chr14:104313106-104313657	ECC-1	luminal epithelium:	n/a	n/a
4	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
5	CCNT2	chr14:104313227-104314522	K562	blood:	n/a	chr14:104314109-104314118 chr14:104314016-104314025 chr14:104313952-104313961 chr14:104314028-104314037
6	SIN3AK20	chr14:104313457-104314192	PANC-1	pancreas:	n/a	n/a
7	POLR2A	chr14:104313168-104314637	MCF-7	breast:	n/a	n/a
8	HCFC1	chr14:104312331-104314594	Hela-S3	cervix:	n/a	n/a
9	SPI1	chr14:104313436-104313658	GM12878	blood:	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	chr14:104313482-104313736	GM12892	blood:	n/a	chr14:104313667-104313678 chr14:104313670-104313679
12	TCF12	chr14:104313082-104313607	ECC-1	luminal epithelium:	n/a	n/a
13	POLR2A	chr14:104313430-104314742	HepG2	liver:	n/a	n/a
14	TAF1	chr14:104313448-104314837	HepG2	liver:	n/a	n/a
15	NFIC	chr14:104313325-104313785	ECC-1	luminal epithelium:	n/a	n/a
16	POLR2A	chr14:104313475-104314482	H1-neurons	neurons:	n/a	n/a
17	POLR2A	chr14:104313411-104314306	HUVEC	blood vessel:	n/a	n/a
18	REST	chr14:104312509-104315008	H1-neurons	neurons:	n/a	chr14:104314017-104314030 chr14:104313951-104313964 chr14:104314832-104314845 chr14:104313836-104313845 chr14:104314605-104314618
19	POLR2A	chr14:104313320-104314487	GM18951	blood:	n/a	n/a
20	MAX	chr14:104313001-104314547	Hela-S3	cervix:	n/a	chr14:104314387-104314397
21	POLR2A	chr14:104312914-104314377	H1-neurons	neurons:	n/a	n/a
22	MAZ	chr14:104313345-104314884	GM12878	blood:	n/a	chr14:104314387-104314397
23	SIN3AK20	chr14:104313398-104313782	H1-hESC	embryonic stem cell:	n/a	n/a
24	SIN3AK20	chr14:104312701-104314543	MCF-7	breast:	n/a	n/a
25	TAF1	chr14:104313437-104313798	ECC-1	luminal epithelium:	n/a	n/a
26	POLR2A	chr14:104313484-104314417	GM18505	blood:	n/a	n/a
27	ELF1	chr14:104313460-104315153	MCF-7	breast:	n/a	chr14:104313861-104313870 chr14:104313858-104313867 chr14:104313854-104313866 chr14:104314101-104314113 chr14:104313857-104313869 chr14:104314100-104314109
28	EGR1	chr14:104313331-104313518	GM12878	blood:	n/a	chr14:104313455-104313469
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	MAZ	chr14:104313342-104314374	Hela-S3	cervix:	n/a	n/a
33	MAX	chr14:104312843-104313782	MCF-7	breast:	n/a	n/a
34	POLR2A	chr14:104313456-104313696	HUVEC	blood vessel:	n/a	n/a
35	POLR2A	chr14:104313481-104314382	HUVEC	blood vessel:	n/a	n/a
36	E2F6	chr14:104313352-104314708	K562	blood:	n/a	chr14:104314101-104314111 chr14:104314517-104314526 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 chr14:104314562-104314573
37	POLR2A	chr14:104313157-104313513	ECC-1	luminal epithelium:	n/a	n/a
38	UBTF	chr14:104313458-104313604	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:104312474..104314028-chr14:104433639..104437208,3	MCF-7	breast:
2	chr14:104313265..104314013-chr6:44214391..44215226,2	Hela-S3	cervix:
3	chr14:104312778..104315212-chr14:104344720..104347233,3	MCF-7	breast:
4	chr14:104180818..104182685-chr14:104312303..104315136,2	MCF-7	breast:
5	chr14:104201896..104204456-chr14:104312035..104314445,3	MCF-7	breast:
6	chr14:104190172..104192468-chr14:104312606..104314249,2	MCF-7	breast:

Variant related genes	Relation type
PPP1R13B	TF binding region
LINC00637	TF binding region
ENSG00000253096	Chromatin interaction
ENSG00000100711	Chromatin interaction
ENSG00000126215	Chromatin interaction
ENSG00000156414	Chromatin interaction
ENSG00000088808	Chromatin interaction
ENSG00000258534	Chromatin interaction
ENSG00000096384	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:25 , 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
17	esv1810532	chr14:104313426-104314796	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
18	nsv566024	chr14:104313426-104314796	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
19	esv1791803	chr14:104313426-104314960	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
20	esv1792127	chr14:104313426-104314960	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
21	esv1796653	chr14:104313426-104314960	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
22	esv1812503	chr14:104313426-104314960	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
23	esv1837676	chr14:104313426-104314960	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
24	nsv566025	chr14:104313426-104314960	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
25	esv1837236	chr14:104313426-104332759	Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 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	chr14:104312200-104314200	Active TSS	Right Ventricle	heart
5	chr14:104312200-104314600	Bivalent/Poised TSS	Fetal Brain Female	brain
6	chr14:104312400-104314400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr14:104312400-104314600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
8	chr14:104312400-104314600	Active TSS	Left Ventricle	heart
9	chr14:104312400-104314600	Active TSS	Lung	lung
10	chr14:104312400-104315000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
11	chr14:104312400-104315000	Active TSS	Psoas Muscle	Psoas
12	chr14:104312600-104313600	Flanking Bivalent TSS/Enh	Thymus	Thymus
13	chr14:104312600-104313800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr14:104312600-104314800	Active TSS	Sigmoid Colon	Sigmoid Colon
15	chr14:104312600-104315200	Active TSS	Ovary	ovary
16	chr14:104312800-104313600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
17	chr14:104312800-104314400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr14:104312800-104314400	Active TSS	Aorta	Aorta
19	chr14:104312800-104314400	Active TSS	Gastric	stomach
20	chr14:104312800-104314600	Active TSS	Fetal Intestine Small	intestine
21	chr14:104312800-104314600	Active TSS	Pancreas	Pancrea
22	chr14:104312800-104314600	Active TSS	GM12878-XiMat	blood
23	chr14:104312800-104314800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr14:104312800-104314800	Active TSS	Esophagus	oesophagus
25	chr14:104312800-104315200	Active TSS	H9 Cell Line	embryonic stem cell
26	chr14:104312800-104315200	Active TSS	Brain Anterior Caudate	brain
27	chr14:104313000-104313600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr14:104313000-104314400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr14:104313000-104314400	Active TSS	HMEC	breast
30	chr14:104313000-104314600	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr14:104313000-104314600	Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr14:104313000-104314600	Active TSS	Primary T helper naive cells from peripheral blood	blood
33	chr14:104313000-104314600	Active TSS	Brain Hippocampus Middle	brain
34	chr14:104313000-104314600	Active TSS	Fetal Intestine Large	intestine
35	chr14:104313000-104314600	Active TSS	Placenta Amnion	Placenta Amnion
36	chr14:104313000-104314600	Active TSS	HSMMtube	muscle
37	chr14:104313000-104314600	Active TSS	NHEK	skin
38	chr14:104313000-104314800	Active TSS	Small Intestine	intestine
39	chr14:104313000-104315200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
40	chr14:104313000-104315200	Active TSS	Hela-S3	cervix
41	chr14:104313000-104315800	Active TSS	Brain Cingulate Gyrus	brain
42	chr14:104313200-104313800	Flanking Active TSS	Primary hematopoietic stem cells	blood
43	chr14:104313200-104314200	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr14:104313200-104314200	Active TSS	Fetal Kidney	kidney
45	chr14:104313200-104314400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr14:104313200-104314400	Active TSS	Rectal Mucosa Donor 29	rectum
47	chr14:104313200-104314400	Active TSS	NHDF-Ad	bronchial
48	chr14:104313200-104314400	Active TSS	NHLF	lung
49	chr14:104313200-104314600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr14:104313200-104314600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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