Variant report

Variant	rs528719557
Chromosome Location	chr7:150745689-150745690
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:150745610-150745820	A549	lung:	n/a	n/a
2	POLR2A	chr7:150745519-150745842	A549	lung:	n/a	n/a
3	POLR2A	chr7:150742963-150746735	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr7:150745616-150745691	A549	lung:	n/a	n/a
5	POLR2A	chr7:150744931-150745796	U87	brain:	n/a	n/a
6	POLR2A	chr7:150745577-150745917	H1-neurons	neurons:	n/a	n/a
7	POLR2A	chr7:150742860-150745890	SK-N-MC	brain:	n/a	n/a
8	POLR2A	chr7:150745665-150745711	HUVEC	blood vessel:	n/a	n/a
9	POLR2A	chr7:150743582-150745819	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr7:150742819-150746720	K562	blood:	n/a	n/a
11	POLR2A	chr7:150742898-150745711	K562	blood:	n/a	n/a
12	POLR2A	chr7:150744183-150745842	A549	lung:	n/a	n/a
13	POLR2A	chr7:150744901-150745810	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr7:150744931-150746120	U87	brain:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:150745680-150745730	PFSK-1	brain:	n/a
2	chr7:150745657-150745707	MCF-7	breast:	n/a
3	chr7:150745657-150745707	LNCaP	prostate:	n/a
4	chr7:150745657-150745707	MCF10A-Er-Src	breast:	n/a
5	chr7:150745680-150745730	PANC-1	pancreas:	n/a
6	chr7:150745680-150745730	GM19239	blood:	n/a
7	chr7:150745680-150745730	A549	lung:	n/a
8	chr7:150745657-150745707	H1-hESC	embryonic stem cell:	embryo
9	chr7:150745680-150745730	AoSMC	blood vessel:	n/a
10	chr7:150745680-150745730	NB4	blood:	n/a
11	chr7:150745657-150745707	Hepatocyte	liver:	n/a
12	chr7:150745680-150745730	HL-60	blood:	n/a
13	chr7:150745680-150745730	U87	brain:	n/a
14	chr7:150745657-150745707	U87	brain:	n/a
15	chr7:150745657-150745707	NT2-D1	testis:	n/a
16	chr7:150745657-150745707	BE2_C	brain:	n/a
17	chr7:150745680-150745730	Jurkat	blood:	n/a
18	chr7:150745657-150745707	HIPEpiC	eye:	n/a
19	chr7:150745657-150745707	A549	lung:	n/a
20	chr7:150745680-150745730	PrEC	prostate:	n/a
21	chr7:150745680-150745730	SAEC	small airway:	n/a
22	chr7:150745680-150745730	ovcar-3	ovarian:	n/a
23	chr7:150745657-150745707	GM12892	blood:	n/a
24	chr7:150745680-150745730	HRCEpiC	kidney:	n/a
25	chr7:150745657-150745707	ovcar-3	ovarian:	n/a
26	chr7:150745657-150745707	HRPEpiC	eye:	n/a
27	chr7:150745680-150745730	BE2_C	brain:	n/a
28	chr7:150745680-150745730	Caco-2	colon:	n/a
29	chr7:150745680-150745730	K562	blood:	n/a
30	chr7:150745657-150745707	HCM	heart:	n/a
31	chr7:150745657-150745707	HepG2	liver:	n/a
32	chr7:150745657-150745707	AG04449	skin:	fetal
33	chr7:150745657-150745707	SK-N-MC	brain:	n/a
34	chr7:150745680-150745730	HRE	kidney:	n/a
35	chr7:150745657-150745707	AG04450	lung:	fetal
36	chr7:150745680-150745730	GM12892	blood:	n/a
37	chr7:150745657-150745707	NHBE	bronchial:	n/a
38	chr7:150745657-150745707	HPAEpiC	pulmonary alveolar:	n/a
39	chr7:150745680-150745730	SKMC	muscle:	n/a
40	chr7:150745680-150745730	ProgFib	skin:	n/a
41	chr7:150745657-150745707	HMEC	breast:	n/a
42	chr7:150745680-150745730	LNCaP	prostate:	n/a
43	chr7:150745657-150745707	ECC-1	luminal epithelium:	n/a
44	chr7:150745657-150745707	AG09309	skin:	n/a
45	chr7:150745680-150745730	HUVEC	blood vessel:	n/a
46	chr7:150745680-150745730	HCPEpiC	choroid plexus:	n/a
47	chr7:150745657-150745707	GM12878	blood:	n/a
48	chr7:150745680-150745730	NHBE	bronchial:	n/a
49	chr7:150745657-150745707	GM12891	blood:	n/a
50	chr7:150745657-150745707	HRE	kidney:	n/a

No data

Variant related genes	Relation type
ASIC3	TF binding region
ASIC3	CpG island

Extended variants
information (count: 20 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1821419	chr7:150593315-150974269	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	128 gene(s)	inside rSNPs	diseases
2	nsv1022246	chr7:150619660-150779924	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv889465	chr7:150640285-150800823	Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
4	nsv1017863	chr7:150643928-150779924	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
5	nsv539197	chr7:150643928-150779924	Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
6	nsv1028645	chr7:150643928-150806534	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
7	nsv539198	chr7:150643928-150879259	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
8	nsv889469	chr7:150657209-150747746	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
9	nsv889471	chr7:150700946-150751590	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	nsv526410	chr7:150714812-150775306	Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
11	nsv889476	chr7:150729212-150951819	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	120 gene(s)	inside rSNPs	diseases
12	nsv1031733	chr7:150730999-150790517	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
13	nsv524928	chr7:150731698-150766799	Genic enhancers Bivalent Enhancer Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
14	nsv889477	chr7:150731698-150837529	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
15	nsv889478	chr7:150732812-150889527	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
16	nsv831188	chr7:150735204-150912875	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
17	nsv889479	chr7:150736382-150785321	Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
18	nsv889480	chr7:150736382-150797581	Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
19	nsv1028023	chr7:150738624-150790517	Strong transcription Genic enhancers Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
20	esv3422787	chr7:150745069-150747867	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150727000-150746400	Weak transcription	Fetal Brain Male	brain
2	chr7:150732400-150745800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr7:150734000-150748000	Weak transcription	Primary B cells from peripheral blood	blood
4	chr7:150734600-150747400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr7:150734600-150747800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr7:150736400-150748000	Weak transcription	Psoas Muscle	Psoas
7	chr7:150736800-150745800	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr7:150736800-150753800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:150737800-150748200	Weak transcription	Primary hematopoietic stem cells	blood
10	chr7:150738600-150749600	Weak transcription	K562	blood
11	chr7:150739600-150750000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr7:150740000-150746600	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr7:150740200-150753800	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr7:150741400-150748000	Weak transcription	Left Ventricle	heart
15	chr7:150741400-150749400	Weak transcription	Brain Substantia Nigra	brain
16	chr7:150741600-150751200	Weak transcription	Primary B cells from cord blood	blood
17	chr7:150742600-150748000	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr7:150742600-150754400	Weak transcription	Aorta	Aorta
19	chr7:150742800-150750200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr7:150743000-150748000	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr7:150743200-150746800	Weak transcription	Fetal Thymus	thymus
22	chr7:150743200-150747800	Weak transcription	Dnd41	blood
23	chr7:150743200-150748000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr7:150743200-150748800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr7:150743400-150745800	Enhancers	Fetal Muscle Leg	muscle
26	chr7:150743400-150746200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr7:150743400-150748000	Weak transcription	Esophagus	oesophagus
28	chr7:150743400-150748000	Weak transcription	Gastric	stomach
29	chr7:150743800-150745800	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr7:150743800-150746000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr7:150743800-150747200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr7:150743800-150747800	Weak transcription	Lung	lung
33	chr7:150743800-150748000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr7:150743800-150748000	Weak transcription	Pancreas	Pancrea
35	chr7:150743800-150748000	Weak transcription	Right Ventricle	heart
36	chr7:150743800-150749200	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr7:150743800-150753800	Weak transcription	Liver	Liver
38	chr7:150744000-150745800	Weak transcription	Fetal Intestine Large	intestine
39	chr7:150744000-150746000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr7:150744000-150748200	Weak transcription	Brain Hippocampus Middle	brain
41	chr7:150744000-150748800	Weak transcription	Primary T cells from cord blood	blood
42	chr7:150744200-150748800	Weak transcription	Brain Angular Gyrus	brain
43	chr7:150744400-150745800	Weak transcription	Spleen	Spleen
44	chr7:150744400-150746600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr7:150744400-150748200	Weak transcription	Fetal Heart	heart
46	chr7:150744400-150751200	Weak transcription	Brain Cingulate Gyrus	brain
47	chr7:150744400-150754000	Weak transcription	A549	lung
48	chr7:150744600-150748000	Weak transcription	HMEC	breast
49	chr7:150744800-150746200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
50	chr7:150744800-150747200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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