Variant report

Variant	rs372844536
Chromosome Location	chr14:105714773-105714774
allele	A/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	POLR2A	chr14:105714611-105715313	A549	lung:	n/a	n/a
2	PML	chr14:105714255-105714973	GM12878	blood:	n/a	n/a
3	POLR2A	chr14:105714527-105715428	Hela-S3	cervix:	n/a	n/a
4	RFX5	chr14:105714322-105715203	Hela-S3	cervix:	n/a	chr14:105714779-105714788
5	POLR2A	chr14:105714551-105714835	U87	brain:	n/a	n/a
6	RFX5	chr14:105714257-105714958	H1-hESC	embryonic stem cell:	n/a	chr14:105714779-105714788
7	POLR2A	chr14:105714529-105715189	HUVEC	blood vessel:	n/a	n/a
8	CTCF	chr14:105714640-105714790	GM12867	blood:	n/a	n/a
9	CREB1	chr14:105714486-105715078	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr14:105714554-105715237	GM12878	blood:	n/a	n/a
11	MXI1	chr14:105714702-105714866	Hela-S3	cervix:	n/a	n/a
12	MAZ	chr14:105714427-105716110	IMR90	lung:	n/a	n/a
13	POLR2A	chr14:105714551-105714961	GM12891	blood:	n/a	n/a
14	SIN3A	chr14:105714441-105714779	GM12878	blood:	n/a	n/a
15	POLR2A	chr14:105714443-105715597	ECC-1	luminal epithelium:	n/a	n/a
16	MAX	chr14:105714252-105715070	A549	lung:	n/a	n/a
17	YY1	chr14:105714496-105714783	A549	lung:	n/a	chr14:105714722-105714736
18	POLR2A	chr14:105714378-105715641	HUVEC	blood vessel:	n/a	n/a
19	POLR2A	chr14:105714548-105715600	GM15510	blood:	n/a	n/a
20	MYC	chr14:105714630-105714910	MCF-7	breast:	n/a	n/a
21	YY1	chr14:105714593-105714832	GM12878	blood:	n/a	chr14:105714822-105714831 chr14:105714722-105714736
22	TCF12	chr14:105714400-105715076	ECC-1	luminal epithelium:	n/a	chr14:105715051-105715061
23	HA-E2F1	chr14:105714434-105715267	MCF-7	breast:	n/a	chr14:105715225-105715236 chr14:105714822-105714831 chr14:105715036-105715046
24	MYC	chr14:105714628-105715333	MCF-7	breast:	n/a	n/a
25	TAF1	chr14:105714635-105714876	GM12878	blood:	n/a	n/a
26	MYC	chr14:105714595-105714899	MCF10A-Er-Src	breast:	n/a	n/a
27	MXI1	chr14:105714625-105715146	GM12878	blood:	n/a	n/a
28	CTCF	chr14:105714640-105714790	GM12873	blood:	n/a	n/a
29	CTCF	chr14:105714746-105714889	Spleen_OC	spleen:	n/a	n/a
30	POLR2A	chr14:105714543-105715142	GM12891	blood:	n/a	n/a
31	MYC	chr14:105714732-105714870	HUVEC	blood vessel:	n/a	n/a
32	POLR2A	chr14:105714468-105715226	Raji	blood:	n/a	n/a
33	EP300	chr14:105714583-105714869	SK-N-SH_RA	brain:	n/a	n/a
34	NRF1	chr14:105714500-105714933	GM12878	blood:	n/a	chr14:105714822-105714831
35	MTA3	chr14:105714421-105714868	GM12878	blood:	n/a	n/a
36	MAZ	chr14:105714612-105715234	Hela-S3	cervix:	n/a	n/a
37	POU2F2	chr14:105714584-105714885	GM12878	blood:	n/a	chr14:105714610-105714617 chr14:105714609-105714618
38	CHD2	chr14:105714688-105714896	Hela-S3	cervix:	n/a	chr14:105714767-105714777
39	CREB1	chr14:105714484-105715182	GM12878	blood:	n/a	n/a
40	MXI1	chr14:105713878-105716413	IMR90	lung:	n/a	n/a
41	POLR2A	chr14:105714618-105715256	MCF10A-Er-Src	breast:	n/a	n/a
42	E2F4	chr14:105714713-105714819	GM12878	blood:	n/a	n/a
43	ZNF143	chr14:105714472-105714816	Hela-S3	cervix:	n/a	chr14:105714723-105714733
44	HA-E2F1	chr14:105714597-105715611	Hela-S3	cervix:	n/a	chr14:105715225-105715236 chr14:105714822-105714831 chr14:105715036-105715046
45	POLR2A	chr14:105714363-105715759	GM12878	blood:	n/a	n/a
46	MAX	chr14:105714246-105715060	ECC-1	luminal epithelium:	n/a	n/a
47	BACH1	chr14:105714406-105715709	H1-hESC	embryonic stem cell:	n/a	n/a
48	ZNF143	chr14:105714295-105715093	GM12878	blood:	n/a	chr14:105714723-105714733
49	MAX	chr14:105714710-105714904	A549	lung:	n/a	n/a
50	POLR2A	chr14:105713980-105715268	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:105633069..105635536-chr14:105714407..105716304,2	MCF-7	breast:
2	chr11:62358871..62359665-chr14:105714579..105715245,2	Hela-S3	cervix:
3	chr14:105713379..105716522-chr14:105764463..105769159,4	MCF-7	breast:
4	chr14:105687326..105689962-chr14:105713390..105716265,3	MCF-7	breast:

Variant related genes	Relation type
BTBD6	TF binding region
BRF1	TF binding region
ENSG00000149016	Chromatin interaction
ENSG00000185024	Chromatin interaction
ENSG00000184916	Chromatin interaction
ENSG00000255508	Chromatin interaction
ENSG00000179364	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1828345	chr14:105100787-105803170	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
2	nsv542225	chr14:105133688-105803170	Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
3	nsv542227	chr14:105157572-105803170	Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	147 gene(s)	inside rSNPs	diseases
4	nsv917106	chr14:105339195-105803170	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
5	nsv902422	chr14:105420215-105803170	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
6	nsv1052190	chr14:105423761-105722653	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
7	nsv902423	chr14:105430890-105803170	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
8	nsv902424	chr14:105436222-105803170	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
9	esv2758369	chr14:105513346-105803170	Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
10	esv2760014	chr14:105513346-105803170	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
11	nsv902433	chr14:105596054-105719306	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
12	nsv902441	chr14:105602619-105803170	Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
13	nsv902442	chr14:105602619-105803170	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
14	esv1817919	chr14:105605199-105803170	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
15	nsv530813	chr14:105607701-106453697	Strong transcription Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
16	nsv902460	chr14:105646179-105731255	Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
17	nsv902464	chr14:105654606-105717265	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
18	nsv510651	chr14:105656882-105725155	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
19	nsv566186	chr14:105675701-105779305	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
20	nsv902466	chr14:105704465-105803170	Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
21	esv29986	chr14:105707292-105803170	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
22	nsv902467	chr14:105709106-105719306	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
23	nsv902468	chr14:105712091-105721808	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
24	esv3357131	chr14:105713857-105716805	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 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	chr14:105690400-105721400	Weak transcription	K562	blood
2	chr14:105711800-105717000	Enhancers	Fetal Brain Male	brain
3	chr14:105713800-105714800	Flanking Active TSS	Primary B cells from cord blood	blood
4	chr14:105713800-105714800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
5	chr14:105713800-105714800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
6	chr14:105713800-105716000	Weak transcription	HepG2	liver
7	chr14:105714000-105714800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
8	chr14:105714000-105714800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr14:105714000-105714800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
10	chr14:105714000-105714800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr14:105714000-105714800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr14:105714000-105714800	Flanking Active TSS	Colonic Mucosa	Colon
13	chr14:105714000-105714800	Flanking Active TSS	Fetal Muscle Trunk	muscle
14	chr14:105714000-105714800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
15	chr14:105714000-105714800	Flanking Active TSS	Stomach Smooth Muscle	stomach
16	chr14:105714000-105714800	Flanking Active TSS	HMEC	breast
17	chr14:105714000-105714800	Flanking Active TSS	NH-A	brain
18	chr14:105714000-105715800	Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr14:105714000-105716000	Active TSS	HUES64 Cell Line	embryonic stem cell
20	chr14:105714000-105716200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr14:105714200-105714800	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr14:105714200-105714800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr14:105714200-105714800	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr14:105714200-105714800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
25	chr14:105714200-105714800	Flanking Active TSS	Primary B cells from peripheral blood	blood
26	chr14:105714200-105714800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
27	chr14:105714200-105714800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
28	chr14:105714200-105714800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
29	chr14:105714200-105714800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
30	chr14:105714200-105714800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr14:105714200-105714800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
32	chr14:105714200-105714800	Flanking Active TSS	Adipose Nuclei	Adipose
33	chr14:105714200-105714800	Flanking Active TSS	Liver	Liver
34	chr14:105714200-105714800	Flanking Active TSS	Placenta	Placenta
35	chr14:105714200-105714800	Flanking Active TSS	Right Ventricle	heart
36	chr14:105714200-105714800	Flanking Active TSS	Dnd41	blood
37	chr14:105714200-105714800	Flanking Active TSS	HSMMtube	muscle
38	chr14:105714200-105714800	Flanking Active TSS	HUVEC	blood vessel
39	chr14:105714200-105714800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
40	chr14:105714200-105715200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr14:105714200-105715200	Active TSS	iPS-20b Cell Line	embryonic stem cell
42	chr14:105714200-105715800	Active TSS	H9 Cell Line	embryonic stem cell
43	chr14:105714200-105715800	Active TSS	iPS-15b Cell Line	embryonic stem cell
44	chr14:105714200-105716000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
45	chr14:105714200-105716200	Active TSS	ES-I3 Cell Line	embryonic stem cell
46	chr14:105714400-105714800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr14:105714400-105714800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr14:105714400-105714800	Flanking Active TSS	Stomach Mucosa	stomach
49	chr14:105714400-105714800	Flanking Active TSS	A549	lung
50	chr14:105714400-105715200	Active TSS	ES-WA7 Cell Line	embryonic stem cell

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