Variant report

Variant	rs7250332
Chromosome Location	chr19:18061509-18061510
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:51)
CpG islands
(count:61)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:51 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr19:18061435-18061834	K562	blood:	n/a	chr19:18061470-18061479
2	ELF1	chr19:18060916-18061680	GM12878	blood:	n/a	n/a
3	EP300	chr19:18061100-18061751	GM12878	blood:	n/a	n/a
4	TBP	chr19:18061151-18061655	GM12878	blood:	n/a	n/a
5	BACH1	chr19:18060643-18062459	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr19:18061148-18061791	GM12892	blood:	n/a	n/a
7	RELA	chr19:18061269-18062083	GM12891	blood:	n/a	n/a
8	STAT3	chr19:18061415-18061567	GM12878	blood:	n/a	n/a
9	MAZ	chr19:18061056-18061875	K562	blood:	n/a	chr19:18061470-18061479
10	POLR2A	chr19:18061083-18061730	K562	blood:	n/a	n/a
11	POLR2A	chr19:18061199-18061572	GM12878	blood:	n/a	n/a
12	POLR2A	chr19:18060774-18062955	SK-N-MC	brain:	n/a	n/a
13	PAX5	chr19:18060987-18061638	GM12878	blood:	n/a	chr19:18061317-18061336 chr19:18061318-18061335 chr19:18061316-18061334
14	ZBTB7A	chr19:18061082-18062253	K562	blood:	n/a	n/a
15	USF2	chr19:18061300-18061603	GM12878	blood:	n/a	n/a
16	POLR2A	chr19:18060889-18062267	H1-neurons	neurons:	n/a	n/a
17	WRNIP1	chr19:18061314-18061558	GM12878	blood:	n/a	n/a
18	STAT1	chr19:18061180-18061759	GM12878	blood:	n/a	chr19:18061403-18061415
19	BHLHE40	chr19:18061097-18061823	GM12878	blood:	n/a	n/a
20	POLR2A	chr19:18060886-18061560	HCT-116	colon:	n/a	n/a
21	EBF1	chr19:18059974-18061771	GM12878	blood:	n/a	chr19:18060647-18060657 chr19:18061586-18061595 chr19:18060646-18060657 chr19:18061586-18061595
22	PML	chr19:18061112-18061605	GM12878	blood:	n/a	n/a
23	POLR2A	chr19:18061289-18061538	GM12878	blood:	n/a	n/a
24	EP300	chr19:18061289-18061557	GM12878	blood:	n/a	n/a
25	POLR2A	chr19:18061076-18061862	GM12878	blood:	n/a	n/a
26	RUNX3	chr19:18060886-18061723	GM12878	blood:	n/a	n/a
27	NRF1	chr19:18061438-18061711	GM12878	blood:	n/a	n/a
28	MTA3	chr19:18060779-18063005	GM12878	blood:	n/a	n/a
29	TCF7L2	chr19:18060538-18061818	HCT-116	colon:	n/a	chr19:18061680-18061689 chr19:18061223-18061232 chr19:18061678-18061692 chr19:18061681-18061691 chr19:18060945-18060959
30	TAF1	chr19:18061487-18061869	H1-neurons	neurons:	n/a	n/a
31	RUNX3	chr19:18060823-18061644	GM12878	blood:	n/a	n/a
32	ZBTB7A	chr19:18060972-18063672	ECC-1	luminal epithelium:	n/a	n/a
33	EP300	chr19:18061106-18061618	GM12878	blood:	n/a	n/a
34	NFIC	chr19:18061020-18061542	GM12878	blood:	n/a	n/a
35	POLR2A	chr19:18061477-18061737	H1-hESC	embryonic stem cell:	n/a	n/a
36	ZBTB7A	chr19:18061039-18062104	K562	blood:	n/a	n/a
37	ZNF143	chr19:18060944-18061798	GM12878	blood:	n/a	n/a
38	REST	chr19:18060819-18062369	H1-neurons	neurons:	n/a	chr19:18061754-18061767 chr19:18060820-18060829 chr19:18061883-18061893
39	POLR2A	chr19:18061188-18061657	GM12878	blood:	n/a	n/a
40	POLR2A	chr19:18061202-18061763	GM12878	blood:	n/a	n/a
41	RELA	chr19:18060950-18061722	GM19193	blood:	n/a	n/a
42	MXI1	chr19:18061352-18061694	GM12878	blood:	n/a	n/a
43	CTBP2	chr19:18060609-18061834	H1-hESC	embryonic stem cell:	n/a	n/a
44	ZBTB7A	chr19:18060943-18063619	ECC-1	luminal epithelium:	n/a	n/a
45	CHD2	chr19:18061069-18061714	GM12878	blood:	n/a	n/a
46	POLR2A	chr19:18060790-18061923	H1-neurons	neurons:	n/a	n/a
47	ZNF263	chr19:18061116-18061639	HEK293-T-REx	kidney:	n/a	chr19:18061408-18061429
48	RCOR1	chr19:18061142-18061763	GM12878	blood:	n/a	n/a
49	MAZ	chr19:18061078-18063718	GM12878	blood:	n/a	chr19:18063486-18063496 chr19:18061896-18061906 chr19:18061470-18061479 chr19:18063392-18063402 chr19:18062846-18062856 chr19:18062005-18062015
50	RELA	chr19:18061119-18061766	GM19099	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:18061472-18061522	AG09319	gingival:	n/a
2	chr19:18061472-18061522	HCM	heart:	n/a
3	chr19:18061472-18061522	IMR90	lung:	fetal
4	chr19:18061472-18061522	LNCaP	prostate:	n/a
5	chr19:18061472-18061522	GM06990	blood:	n/a
6	chr19:18061472-18061522	U87	brain:	n/a
7	chr19:18061472-18061522	AG10803	skin:	n/a
8	chr19:18061472-18061522	GM12892	blood:	n/a
9	chr19:18061472-18061522	T-47D	breast:	n/a
10	chr19:18061472-18061522	AG04450	lung:	fetal
11	chr19:18061472-18061522	ProgFib	skin:	n/a
12	chr19:18061472-18061522	HCF	heart:	n/a
13	chr19:18061472-18061522	Caco-2	colon:	n/a
14	chr19:18061472-18061522	HIPEpiC	eye:	n/a
15	chr19:18061472-18061522	SK-N-SH_RA	brain:	n/a
16	chr19:18061472-18061522	AoSMC	blood vessel:	n/a
17	chr19:18061472-18061522	HRPEpiC	eye:	n/a
18	chr19:18061472-18061522	ECC-1	luminal epithelium:	n/a
19	chr19:18061472-18061522	SK-N-SH	brain:	n/a
20	chr19:18061472-18061522	MCF-7	breast:	n/a
21	chr19:18061472-18061522	HNPCEpiC	eye:	n/a
22	chr19:18061472-18061522	HRE	kidney:	n/a
23	chr19:18061472-18061522	A549	lung:	n/a
24	chr19:18061472-18061522	PANC-1	pancreas:	n/a
25	chr19:18061472-18061522	PrEC	prostate:	n/a
26	chr19:18061472-18061522	NB4	blood:	n/a
27	chr19:18061472-18061522	HMEC	breast:	n/a
28	chr19:18061472-18061522	HCPEpiC	choroid plexus:	n/a
29	chr19:18061472-18061522	HAEpiC	amniotic membrane:	n/a
30	chr19:18061472-18061522	HL-60	blood:	n/a
31	chr19:18061472-18061522	NH-A	brain:	n/a
32	chr19:18061472-18061522	SAEC	small airway:	n/a
33	chr19:18061472-18061522	HPAEpiC	pulmonary alveolar:	n/a
34	chr19:18061472-18061522	Hela-S3	cervix:	n/a
35	chr19:18061472-18061522	NHBE	bronchial:	n/a
36	chr19:18061472-18061522	HCT-116	colon:	n/a
37	chr19:18061472-18061522	GM19239	blood:	n/a
38	chr19:18061472-18061522	MCF10A-Er-Src	breast:	n/a
39	chr19:18061472-18061522	K562	blood:	n/a
40	chr19:18061472-18061522	NHDF-neo	bronchial:	n/a
41	chr19:18061472-18061522	AG04449	skin:	fetal
42	chr19:18061472-18061522	HRCEpiC	kidney:	n/a
43	chr19:18061472-18061522	BE2_C	brain:	n/a
44	chr19:18061472-18061522	SKMC	muscle:	n/a
45	chr19:18061472-18061522	ovcar-3	ovarian:	n/a
46	chr19:18061472-18061522	NT2-D1	testis:	n/a
47	chr19:18061472-18061522	Hepatocyte	liver:	n/a
48	chr19:18061472-18061522	AG09309	skin:	n/a
49	chr19:18061472-18061522	HUVEC	blood vessel:	n/a
50	chr19:18061472-18061522	SK-N-MC	brain:	n/a

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:18058883..18061817-chr19:18083400..18086380,2	K562	blood:
2	chr19:18058855..18062679-chr19:18075387..18079032,3	MCF-7	breast:
3	chr19:18055988..18065489-chr19:18073307..18083163,16	K562	blood:
4	chr19:18060053..18061688-chr19:18218502..18220719,2	K562	blood:
5	chr19:18057399..18062095-chr19:18108081..18112546,5	K562	blood:
6	chr19:18059452..18062098-chr19:18102180..18104149,2	MCF-7	breast:
7	chr19:17969435..17972591-chr19:18056494..18062279,6	K562	blood:
8	chr19:18061398..18062926-chr19:18110709..18112847,2	MCF-7	breast:
9	chr19:17970109..17972099-chr19:18059372..18061707,2	MCF-7	breast:

No data

Variant related genes	Relation type
KCNN1	TF binding region
KCNN1	CpG island
ENSG00000105640	Chromatin interaction
ENSG00000105643	Chromatin interaction
ENSG00000252591	Chromatin interaction
ENSG00000105642	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10417226	0.81[AFR][1000 genomes]
rs1076356	0.86[CHB][hapmap];0.80[JPT][hapmap]
rs4808105	0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs6512237	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6512238	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.93[MKK][hapmap];0.97[TSI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7256003	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8099927	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8101684	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8110033	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911214	chr19:17827442-18123965	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
2	nsv1055932	chr19:17923918-18369944	Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
3	nsv543923	chr19:17923918-18369944	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
4	nsv833772	chr19:17965173-18139337	Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	75 gene(s)	inside rSNPs	diseases
5	nsv911226	chr19:18007077-18075077	Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv911227	chr19:18007077-18117646	Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
7	nsv532614	chr19:18033043-18573963	Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	204 gene(s)	inside rSNPs	diseases
8	nsv911228	chr19:18038782-18101830	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv911229	chr19:18042945-18117646	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
10	nsv470130	chr19:18047283-18234587	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
11	nsv911230	chr19:18059744-18092442	Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	nsv911231	chr19:18059744-18095251	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	nsv911232	chr19:18061509-18123965	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18059200-18062200	Enhancers	Fetal Brain Male	brain
2	chr19:18059200-18063800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
3	chr19:18059200-18064400	Enhancers	Pancreas	Pancrea
4	chr19:18059400-18062800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr19:18059400-18062800	Bivalent Enhancer	Stomach Mucosa	stomach
6	chr19:18059400-18064600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr19:18059600-18061600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
8	chr19:18059600-18061800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr19:18059600-18062200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
10	chr19:18059600-18064000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
11	chr19:18059600-18064200	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
12	chr19:18059800-18061800	Bivalent Enhancer	NH-A	brain
13	chr19:18059800-18063200	Bivalent Enhancer	Fetal Muscle Leg	muscle
14	chr19:18059800-18063600	Bivalent Enhancer	Fetal Intestine Large	intestine
15	chr19:18059800-18063800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
16	chr19:18059800-18064000	Bivalent Enhancer	Fetal Thymus	thymus
17	chr19:18059800-18064200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
18	chr19:18059800-18064400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
19	chr19:18060000-18061600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
20	chr19:18060000-18061600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
21	chr19:18060000-18061800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr19:18060000-18061800	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
23	chr19:18060000-18062000	Enhancers	Liver	Liver
24	chr19:18060000-18062200	Enhancers	Ovary	ovary
25	chr19:18060000-18062200	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
26	chr19:18060000-18063200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
27	chr19:18060000-18063800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
28	chr19:18060000-18063800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr19:18060000-18064200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
30	chr19:18060000-18065200	Bivalent Enhancer	Placenta	Placenta
31	chr19:18060400-18063600	Bivalent Enhancer	Brain Anterior Caudate	brain
32	chr19:18060600-18062800	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
33	chr19:18060600-18063400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
34	chr19:18060800-18061600	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
35	chr19:18060800-18061600	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr19:18060800-18061600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
37	chr19:18060800-18061600	Enhancers	Spleen	Spleen
38	chr19:18060800-18061600	Bivalent Enhancer	Hela-S3	cervix
39	chr19:18060800-18061800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
40	chr19:18060800-18061800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr19:18060800-18061800	Bivalent Enhancer	Brain Substantia Nigra	brain
42	chr19:18060800-18062000	Bivalent Enhancer	Brain Angular Gyrus	brain
43	chr19:18060800-18062400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr19:18060800-18062600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
45	chr19:18060800-18062600	Flanking Active TSS	GM12878-XiMat	blood
46	chr19:18060800-18062800	Flanking Active TSS	Brain Germinal Matrix	brain
47	chr19:18060800-18063000	Enhancers	Gastric	stomach
48	chr19:18060800-18063400	Enhancers	Lung	lung
49	chr19:18060800-18063400	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
50	chr19:18060800-18063800	Bivalent Enhancer	Fetal Heart	heart

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