Variant report

Variant	rs2972436
Chromosome Location	chr19:38210346-38210347
allele	C/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	MAX	chr19:38210059-38210905	GM12878	blood:	n/a	n/a
2	MYC	chr19:38210010-38210932	K562	blood:	n/a	n/a
3	CTCF	chr19:38210240-38210390	GM12866	blood:	n/a	chr19:38210351-38210364
4	RCOR1	chr19:38210180-38210912	Hela-S3	cervix:	n/a	n/a
5	MAX	chr19:38210122-38210507	K562	blood:	n/a	n/a
6	POLR2A	chr19:38210115-38210853	GM12891	blood:	n/a	n/a
7	POLR2A	chr19:38210108-38210806	K562	blood:	n/a	n/a
8	CTCF	chr19:38210260-38210410	AG09309	skin:	n/a	chr19:38210351-38210364
9	POLR2A	chr19:38210218-38210959	Hela-S3	cervix:	n/a	n/a
10	MAX	chr19:38210133-38210702	K562	blood:	n/a	n/a
11	POLR2A	chr19:38210345-38210840	ECC-1	luminal epithelium:	n/a	n/a
12	POLR2A	chr19:38210034-38210844	A549	lung:	n/a	n/a
13	E2F4	chr19:38209935-38210795	MCF10A-Er-Src	breast:	n/a	chr19:38210677-38210686 chr19:38210397-38210406 chr19:38210304-38210316 chr19:38210614-38210623
14	POLR2A	chr19:38210314-38210917	SK-N-SH	brain:	n/a	n/a
15	CTCF	chr19:38210320-38210470	HMEC	breast:	n/a	chr19:38210351-38210364
16	POLR2A	chr19:38210043-38210852	GM12891	blood:	n/a	n/a
17	POLR2A	chr19:38209969-38210971	ECC-1	luminal epithelium:	n/a	n/a
18	YY1	chr19:38210306-38210798	GM12891	blood:	n/a	chr19:38210397-38210406
19	ETS1	chr19:38209883-38211026	A549	lung:	n/a	chr19:38210611-38210624 chr19:38210053-38210062
20	POLR2A	chr19:38210052-38210938	MCF-7	breast:	n/a	n/a
21	MXI1	chr19:38209973-38210875	HepG2	liver:	n/a	n/a
22	CTCF	chr19:38210200-38210350	GM12869	blood:	n/a	n/a
23	MAX	chr19:38210038-38210934	Hela-S3	cervix:	n/a	n/a
24	STAT5A	chr19:38210232-38210733	GM12878	blood:	n/a	n/a
25	CTCF	chr19:38210220-38210947	K562	blood:	n/a	chr19:38210746-38210762 chr19:38210351-38210364 chr19:38210802-38210810
26	CTCF	chr19:38210340-38210490	Caco-2	colon:	n/a	chr19:38210351-38210364
27	MYC	chr19:38210070-38210807	K562	blood:	n/a	n/a
28	SIN3A	chr19:38209532-38210972	H1-hESC	embryonic stem cell:	n/a	chr19:38210536-38210550 chr19:38210280-38210289
29	TAF1	chr19:38210021-38210799	HepG2	liver:	n/a	n/a
30	POLR2A	chr19:38209954-38210968	PANC-1	pancreas:	n/a	n/a
31	HCFC1	chr19:38210160-38210839	K562	blood:	n/a	n/a
32	POLR2A	chr19:38210168-38210890	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr19:38209968-38210791	Hela-S3	cervix:	n/a	n/a
34	TBP	chr19:38210017-38210802	Hela-S3	cervix:	n/a	n/a
35	JUND	chr19:38210087-38210924	K562	blood:	n/a	n/a
36	RFX5	chr19:38210146-38210949	HepG2	liver:	n/a	chr19:38210872-38210887
37	TFAP2C	chr19:38210058-38211002	Hela-S3	cervix:	n/a	chr19:38210708-38210723
38	CTCF	chr19:38209103-38211671	A549	lung:	n/a	chr19:38210746-38210762 chr19:38210351-38210364 chr19:38209349-38209357 chr19:38210802-38210810
39	CTCF	chr19:38210343-38210408	GM13977	blood:	n/a	chr19:38210351-38210364
40	MYC	chr19:38210200-38210497	K562	blood:	n/a	n/a
41	BCLAF1	chr19:38210054-38210753	GM12878	blood:	n/a	chr19:38210397-38210410 chr19:38210404-38210417
42	RUNX3	chr19:38209959-38210909	GM12878	blood:	n/a	n/a
43	TAF1	chr19:38210164-38210879	A549	lung:	n/a	n/a
44	MAX	chr19:38209957-38211076	HCT-116	colon:	n/a	n/a
45	MAX	chr19:38210234-38210832	HepG2	liver:	n/a	n/a
46	POLR2A	chr19:38210036-38210810	HepG2	liver:	n/a	n/a
47	CTCF	chr19:38210320-38210470	BJ	skin:	n/a	chr19:38210351-38210364
48	CTCF	chr19:38210100-38210444	MCF-7	breast:	n/a	chr19:38210351-38210364
49	HA-E2F1	chr19:38209953-38210995	MCF-7	breast:	n/a	chr19:38210677-38210686 chr19:38210397-38210406 chr19:38210304-38210316 chr19:38210614-38210623
50	CTCF	chr19:38210200-38210350	AG04449	skin:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:38210322-38210372	AG04450	lung:	fetal
2	chr19:38210322-38210372	HRPEpiC	eye:	n/a
3	chr19:38210322-38210372	MCF10A-Er-Src	breast:	n/a
4	chr19:38210322-38210372	HEK293	kidney:	embryo
5	chr19:38210322-38210372	T-47D	breast:	n/a
6	chr19:38210322-38210372	HCT-116	colon:	n/a
7	chr19:38210322-38210372	PrEC	prostate:	n/a
8	chr19:38210322-38210372	NB4	blood:	n/a
9	chr19:38210322-38210372	NH-A	brain:	n/a
10	chr19:38210322-38210372	Caco-2	colon:	n/a
11	chr19:38210322-38210372	AG04449	skin:	fetal
12	chr19:38210322-38210372	LNCaP	prostate:	n/a
13	chr19:38210322-38210372	GM06990	blood:	n/a
14	chr19:38210322-38210372	HIPEpiC	eye:	n/a
15	chr19:38210322-38210372	AG09309	skin:	n/a
16	chr19:38210322-38210372	NHDF-neo	bronchial:	n/a
17	chr19:38210322-38210372	MCF-7	breast:	n/a
18	chr19:38210322-38210372	HPAEpiC	pulmonary alveolar:	n/a
19	chr19:38210322-38210372	HepG2	liver:	n/a
20	chr19:38210322-38210372	U87	brain:	n/a
21	chr19:38210322-38210372	GM12891	blood:	n/a
22	chr19:38210322-38210372	Hela-S3	cervix:	n/a
23	chr19:38210322-38210372	HCPEpiC	choroid plexus:	n/a
24	chr19:38210322-38210372	HL-60	blood:	n/a
25	chr19:38210322-38210372	HMEC	breast:	n/a
26	chr19:38210322-38210372	BE2_C	brain:	n/a
27	chr19:38210322-38210372	HAEpiC	amniotic membrane:	n/a
28	chr19:38210322-38210372	SAEC	small airway:	n/a
29	chr19:38210322-38210372	BJ	skin:	n/a
30	chr19:38210322-38210372	H1-hESC	embryonic stem cell:	embryo
31	chr19:38210322-38210372	HCM	heart:	n/a
32	chr19:38210322-38210372	GM12878	blood:	n/a
33	chr19:38210322-38210372	K562	blood:	n/a
34	chr19:38210322-38210372	Hepatocyte	liver:	n/a
35	chr19:38210322-38210372	SKMC	muscle:	n/a
36	chr19:38210322-38210372	PFSK-1	brain:	n/a
37	chr19:38210322-38210372	NHBE	bronchial:	n/a
38	chr19:38210322-38210372	SK-N-SH_RA	brain:	n/a
39	chr19:38210322-38210372	PANC-1	pancreas:	n/a
40	chr19:38210322-38210372	HCF	heart:	n/a
41	chr19:38210322-38210372	HEEpiC	esophagus:	n/a
42	chr19:38210322-38210372	GM19239	blood:	n/a
43	chr19:38210322-38210372	SK-N-MC	brain:	n/a
44	chr19:38210322-38210372	Jurkat	blood:	n/a
45	chr19:38210322-38210372	RPTEC	kidney:	n/a
46	chr19:38210322-38210372	ovcar-3	ovarian:	n/a
47	chr19:38210322-38210372	HRCEpiC	kidney:	n/a
48	chr19:38210322-38210372	NT2-D1	testis:	n/a
49	chr19:38210322-38210372	GM12892	blood:	n/a
50	chr19:38210322-38210372	HNPCEpiC	eye:	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:37996176..37999146-chr19:38209174..38211289,2	MCF-7	breast:
2	chr19:38083812..38086216-chr19:38209948..38211806,2	MCF-7	breast:
3	chr17:79868838..79869455-chr19:38210005..38210505,2	Hela-S3	cervix:

Variant related genes	Relation type
ZNF607	TF binding region
ENSG00000267552	TF binding region
ZNF607	CpG island
ENSG00000267552	CpG island
ENSG00000185813	Chromatin interaction
ENSG00000188227	Chromatin interaction
ENSG00000266916	Chromatin interaction
ENSG00000171817	Chromatin interaction
ENSG00000180479	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs2216299	1.00[AMR][1000 genomes]
rs2248576	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2385006	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs241934	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs241936	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs241938	1.00[AMR][1000 genomes]
rs241939	1.00[AMR][1000 genomes]
rs241945	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs241958	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs241961	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2891656	1.00[AMR][1000 genomes]
rs2909087	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2909089	1.00[AMR][1000 genomes]
rs2909090	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2909091	1.00[AMR][1000 genomes]
rs2909094	1.00[AMR][1000 genomes]
rs2909095	1.00[AMR][1000 genomes]
rs2909096	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2909099	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2909101	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2909107	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2972429	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2972431	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2972432	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2972433	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2972435	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2972440	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2972441	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2972442	0.88[AFR][1000 genomes]
rs2972443	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2972450	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2972451	1.00[AMR][1000 genomes]
rs2972460	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3095723	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3095725	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3112436	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34301943	1.00[AMR][1000 genomes]
rs59246699	1.00[AMR][1000 genomes]
rs61744939	1.00[AMR][1000 genomes]
rs6508734	1.00[AMR][1000 genomes]
rs6508740	1.00[AMR][1000 genomes]
rs7245613	1.00[AMR][1000 genomes]
rs7245750	1.00[AMR][1000 genomes]
rs7249524	1.00[AMR][1000 genomes]
rs7250160	1.00[AMR][1000 genomes]
rs7251623	1.00[AMR][1000 genomes]
rs7252424	1.00[AMR][1000 genomes]
rs7259281	1.00[AMR][1000 genomes]
rs8106132	1.00[AMR][1000 genomes]
rs8107942	1.00[AMR][1000 genomes]
rs8112992	1.00[AMR][1000 genomes]
rs856294	1.00[AMR][1000 genomes]
rs856296	1.00[AMR][1000 genomes]
rs856297	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs856303	1.00[AMR][1000 genomes]
rs978723	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv579468	chr19:37977609-38293487	ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv949296	chr19:38034722-38763140	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv833820	chr19:38190721-38414049	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 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	chr19:38208800-38210800	Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr19:38208800-38211000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr19:38208800-38211000	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr19:38208800-38211000	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr19:38208800-38211200	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr19:38209000-38210800	Active TSS	H1 Cell Line	embryonic stem cell
7	chr19:38209000-38210800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr19:38209000-38210800	Active TSS	Right Ventricle	heart
9	chr19:38209000-38210800	Active TSS	K562	blood
10	chr19:38209000-38211000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr19:38209000-38211000	Active TSS	Fetal Intestine Large	intestine
12	chr19:38209200-38210400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr19:38209200-38210600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr19:38209200-38210800	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr19:38209200-38210800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr19:38209200-38210800	Active TSS	Left Ventricle	heart
17	chr19:38209200-38211000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr19:38209200-38211000	Active TSS	NHLF	lung
19	chr19:38209200-38211200	ZNF genes & repeats	Liver	Liver
20	chr19:38209400-38210800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr19:38209400-38210800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
22	chr19:38209400-38210800	Active TSS	Fetal Intestine Small	intestine
23	chr19:38209400-38211000	Active TSS	H9 Cell Line	embryonic stem cell
24	chr19:38209400-38211000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr19:38209400-38211000	Active TSS	HUES64 Cell Line	embryonic stem cell
26	chr19:38209400-38211000	Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr19:38209400-38211000	Active TSS	Fetal Heart	heart
28	chr19:38209400-38211000	Active TSS	HSMM	muscle
29	chr19:38209600-38210600	Flanking Active TSS	Primary B cells from cord blood	blood
30	chr19:38209600-38210600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr19:38209600-38210800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr19:38209600-38210800	Active TSS	iPS-15b Cell Line	embryonic stem cell
33	chr19:38209600-38210800	Active TSS	iPS-18 Cell Line	embryonic stem cell
34	chr19:38209600-38210800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr19:38209600-38210800	Active TSS	Brain Angular Gyrus	brain
36	chr19:38209600-38210800	Active TSS	Fetal Muscle Trunk	muscle
37	chr19:38209600-38210800	Active TSS	HMEC	breast
38	chr19:38209600-38211000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
39	chr19:38209600-38211000	Active TSS	Fetal Kidney	kidney
40	chr19:38209600-38211000	Active TSS	Ovary	ovary
41	chr19:38209600-38211000	Active TSS	Psoas Muscle	Psoas
42	chr19:38209600-38211000	Active TSS	NHDF-Ad	bronchial
43	chr19:38209800-38210800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr19:38209800-38210800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr19:38209800-38210800	Active TSS	Colonic Mucosa	Colon
46	chr19:38209800-38210800	Active TSS	Fetal Brain Male	brain
47	chr19:38209800-38210800	Active TSS	Fetal Thymus	thymus
48	chr19:38209800-38210800	Active TSS	Pancreas	Pancrea
49	chr19:38209800-38210800	Active TSS	Stomach Mucosa	stomach
50	chr19:38209800-38210800	Active TSS	GM12878-XiMat	blood

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