Variant report

Variant	rs587702693
Chromosome Location	chr14:105714564-105714565
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	PML	chr14:105714255-105714973	GM12878	blood:	n/a	n/a
2	POLR2A	chr14:105714527-105715428	Hela-S3	cervix:	n/a	n/a
3	RFX5	chr14:105714322-105715203	Hela-S3	cervix:	n/a	chr14:105714779-105714788
4	POLR2A	chr14:105714551-105714835	U87	brain:	n/a	n/a
5	RFX5	chr14:105714257-105714958	H1-hESC	embryonic stem cell:	n/a	chr14:105714779-105714788
6	POLR2A	chr14:105714529-105715189	HUVEC	blood vessel:	n/a	n/a
7	CREB1	chr14:105714486-105715078	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr14:105714554-105715237	GM12878	blood:	n/a	n/a
9	MAZ	chr14:105714427-105716110	IMR90	lung:	n/a	n/a
10	POLR2A	chr14:105714551-105714961	GM12891	blood:	n/a	n/a
11	SIN3A	chr14:105714441-105714779	GM12878	blood:	n/a	n/a
12	POLR2A	chr14:105714443-105715597	ECC-1	luminal epithelium:	n/a	n/a
13	MAX	chr14:105714252-105715070	A549	lung:	n/a	n/a
14	YY1	chr14:105714496-105714783	A549	lung:	n/a	chr14:105714722-105714736
15	POLR2A	chr14:105714378-105715641	HUVEC	blood vessel:	n/a	n/a
16	POLR2A	chr14:105714548-105715600	GM15510	blood:	n/a	n/a
17	TCF12	chr14:105714400-105715076	ECC-1	luminal epithelium:	n/a	chr14:105715051-105715061
18	HA-E2F1	chr14:105714434-105715267	MCF-7	breast:	n/a	chr14:105715225-105715236 chr14:105714822-105714831 chr14:105715036-105715046
19	JUND	chr14:105714488-105714655	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr14:105714543-105715142	GM12891	blood:	n/a	n/a
21	POLR2A	chr14:105714468-105715226	Raji	blood:	n/a	n/a
22	NRF1	chr14:105714500-105714933	GM12878	blood:	n/a	chr14:105714822-105714831
23	MTA3	chr14:105714421-105714868	GM12878	blood:	n/a	n/a
24	CREB1	chr14:105714484-105715182	GM12878	blood:	n/a	n/a
25	CTCF	chr14:105714420-105714570	GM12873	blood:	n/a	n/a
26	MXI1	chr14:105713878-105716413	IMR90	lung:	n/a	n/a
27	ZNF143	chr14:105714472-105714816	Hela-S3	cervix:	n/a	chr14:105714723-105714733
28	POLR2A	chr14:105714363-105715759	GM12878	blood:	n/a	n/a
29	MAX	chr14:105714246-105715060	ECC-1	luminal epithelium:	n/a	n/a
30	BACH1	chr14:105714406-105715709	H1-hESC	embryonic stem cell:	n/a	n/a
31	ZNF143	chr14:105714295-105715093	GM12878	blood:	n/a	chr14:105714723-105714733
32	POLR2A	chr14:105713980-105715268	HL-60	blood:	n/a	n/a
33	MAX	chr14:105714143-105715844	A549	lung:	n/a	n/a
34	POLR2A	chr14:105714504-105715497	GM18505	blood:	n/a	n/a
35	ELF1	chr14:105713996-105715030	GM12878	blood:	n/a	n/a
36	NRF1	chr14:105714358-105715111	SK-N-SH	brain:	n/a	chr14:105714822-105714831
37	POLR2A	chr14:105714533-105715726	HUVEC	blood vessel:	n/a	n/a
38	E2F6	chr14:105714210-105714946	A549	lung:	n/a	chr14:105714822-105714831 chr14:105714311-105714325
39	POLR2A	chr14:105714470-105714916	GM12892	blood:	n/a	n/a
40	POLR2A	chr14:105714281-105715125	PFSK-1	brain:	n/a	n/a
41	RAD21	chr14:105714394-105714926	IMR90	lung:	n/a	chr14:105714722-105714736 chr14:105714819-105714829
42	POLR2A	chr14:105714539-105715353	A549	lung:	n/a	n/a
43	MAZ	chr14:105714471-105715234	GM12878	blood:	n/a	n/a
44	RFX5	chr14:105713778-105715337	IMR90	lung:	n/a	chr14:105714779-105714788
45	GATA3	chr14:105714426-105714804	T-47D	breast:	n/a	n/a
46	TCF12	chr14:105714131-105714626	A549	lung:	n/a	n/a
47	POLR2A	chr14:105714430-105715329	MCF-7	breast:	n/a	n/a
48	POLR2A	chr14:105714376-105714850	U87	brain:	n/a	n/a
49	POLR2A	chr14:105714535-105714884	GM12891	blood:	n/a	n/a
50	POLR2A	chr14:105714542-105715238	GM18951	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:105633069..105635536-chr14:105714407..105716304,2	MCF-7	breast:
2	chr14:105713379..105716522-chr14:105764463..105769159,4	MCF-7	breast:
3	chr14:105687326..105689962-chr14:105713390..105716265,3	MCF-7	breast:

Variant related genes	Relation type
BTBD6	TF binding region
BRF1	TF binding region
ENSG00000179364	Chromatin interaction
ENSG00000185024	Chromatin interaction
ENSG00000184916	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	chr14:105713600-105714600	Flanking Active TSS	Brain Cingulate Gyrus	brain
4	chr14:105713800-105714800	Flanking Active TSS	Primary B cells from cord blood	blood
5	chr14:105713800-105714800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
6	chr14:105713800-105714800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
7	chr14:105713800-105716000	Weak transcription	HepG2	liver
8	chr14:105714000-105714600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr14:105714000-105714600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr14:105714000-105714600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr14:105714000-105714600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
12	chr14:105714000-105714600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
13	chr14:105714000-105714600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr14:105714000-105714600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr14:105714000-105714600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr14:105714000-105714600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr14:105714000-105714600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr14:105714000-105714600	Flanking Active TSS	Brain Angular Gyrus	brain
19	chr14:105714000-105714600	Flanking Active TSS	Brain Anterior Caudate	brain
20	chr14:105714000-105714600	Flanking Active TSS	Brain Germinal Matrix	brain
21	chr14:105714000-105714600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr14:105714000-105714600	Flanking Active TSS	Colon Smooth Muscle	Colon
23	chr14:105714000-105714600	Flanking Active TSS	Fetal Brain Female	brain
24	chr14:105714000-105714600	Flanking Active TSS	Lung	lung
25	chr14:105714000-105714600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
26	chr14:105714000-105714600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
27	chr14:105714000-105714600	Flanking Active TSS	Rectal Smooth Muscle	rectum
28	chr14:105714000-105714600	Flanking Active TSS	Thymus	Thymus
29	chr14:105714000-105714600	Flanking Active TSS	GM12878-XiMat	blood
30	chr14:105714000-105714600	Flanking Active TSS	NHDF-Ad	bronchial
31	chr14:105714000-105714600	Flanking Active TSS	NHEK	skin
32	chr14:105714000-105714600	Transcr. at gene 5' and 3'	NHLF	lung
33	chr14:105714000-105714800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
34	chr14:105714000-105714800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr14:105714000-105714800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
36	chr14:105714000-105714800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr14:105714000-105714800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr14:105714000-105714800	Flanking Active TSS	Colonic Mucosa	Colon
39	chr14:105714000-105714800	Flanking Active TSS	Fetal Muscle Trunk	muscle
40	chr14:105714000-105714800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
41	chr14:105714000-105714800	Flanking Active TSS	Stomach Smooth Muscle	stomach
42	chr14:105714000-105714800	Flanking Active TSS	HMEC	breast
43	chr14:105714000-105714800	Flanking Active TSS	NH-A	brain
44	chr14:105714000-105715800	Active TSS	HUES6 Cell Line	embryonic stem cell
45	chr14:105714000-105716000	Active TSS	HUES64 Cell Line	embryonic stem cell
46	chr14:105714000-105716200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr14:105714200-105714600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
48	chr14:105714200-105714600	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr14:105714200-105714600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
50	chr14:105714200-105714600	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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