Variant report

Variant	rs3810141
Chromosome Location	chr19:45316804-45316805
allele	A/C/G/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	CTCF	chr19:45316660-45316810	AG04449	skin:	n/a	n/a
2	CTCF	chr19:45316700-45316850	GM06990	blood:	n/a	n/a
3	NR2F2	chr19:45316630-45317547	HepG2	liver:	n/a	chr19:45316958-45316973 chr19:45316893-45316908 chr19:45316932-45316947
4	CTCF	chr19:45316660-45316810	HBMEC	blood vessel:	n/a	n/a
5	CTCF	chr19:45316660-45316810	HCPEpiC	choroid plexus:	n/a	n/a
6	CTCF	chr19:45316680-45316830	SK-N-SH_RA	brain:	n/a	n/a
7	CTCF	chr19:45316720-45316870	HCFaa	heart:	n/a	n/a
8	CTCF	chr19:45316668-45316859	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr19:45316740-45316890	BJ	skin:	n/a	n/a
10	CTCF	chr19:45316680-45316830	RPTEC	kidney:	n/a	n/a
11	CTCF	chr19:45316700-45316850	HEK293	kidney:	n/a	n/a
12	RAD21	chr19:45316545-45316979	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr19:45316740-45316890	HEK293	kidney:	n/a	n/a
14	CTCF	chr19:45316720-45316870	AG04450	lung:	n/a	n/a
15	NR2F2	chr19:45316645-45317481	K562	blood:	n/a	chr19:45316958-45316973 chr19:45316893-45316908 chr19:45316932-45316947
16	CTCF	chr19:45316700-45316850	A549	lung:	n/a	n/a
17	CTCF	chr19:45316660-45316810	HRE	kidney:	n/a	n/a
18	NR2C2	chr19:45316778-45317197	GM12878	blood:	n/a	chr19:45316892-45316901 chr19:45316958-45316973 chr19:45317057-45317070 chr19:45317064-45317077 chr19:45316890-45316903 chr19:45316899-45316908 chr19:45317059-45317068 chr19:45317020-45317033 chr19:45317022-45317031 chr19:45316897-45316910 chr19:45316932-45316947 chr19:45316959-45316972 chr19:45316961-45316970
19	CTCF	chr19:45316660-45316810	HA-sp	spinal cord:	n/a	n/a
20	CTCF	chr19:45316740-45316890	MCF-7	breast:	n/a	n/a
21	CTCF	chr19:45316660-45316810	HAc	cerebellar:	n/a	n/a
22	CTCF	chr19:45316700-45316850	Hela-S3	cervix:	n/a	n/a
23	CTCF	chr19:45316700-45316850	HPF	lung:	n/a	n/a
24	NR2F2	chr19:45316577-45317821	MCF-7	breast:	n/a	chr19:45316958-45316973 chr19:45316893-45316908 chr19:45316932-45316947
25	CTCF	chr19:45316660-45316810	HRPEpiC	eye:	n/a	n/a
26	CTCF	chr19:45316561-45316869	H1-hESC	embryonic stem cell:	n/a	n/a
27	CTCF	chr19:45316624-45316821	K562	blood:	n/a	n/a
28	CTCF	chr19:45316720-45316870	HCPEpiC	choroid plexus:	n/a	n/a
29	CTCF	chr19:45316680-45316830	WERI-Rb-1	eye:	n/a	n/a
30	NR2C2	chr19:45316783-45317206	K562	blood:	n/a	chr19:45316892-45316901 chr19:45316958-45316973 chr19:45317057-45317070 chr19:45317064-45317077 chr19:45316890-45316903 chr19:45316899-45316908 chr19:45317059-45317068 chr19:45317020-45317033 chr19:45317022-45317031 chr19:45316897-45316910 chr19:45316932-45316947 chr19:45316959-45316972 chr19:45316961-45316970
31	NR2F2	chr19:45316736-45317349	MCF-7	breast:	n/a	chr19:45316958-45316973 chr19:45316893-45316908 chr19:45316932-45316947
32	CTCF	chr19:45316760-45316910	HEEpiC	esophagus:	n/a	n/a
33	CTCF	chr19:45316660-45316810	BE2_C	brain:	n/a	n/a
34	CTCF	chr19:45316752-45316836	Kidney_OC	kidney:	n/a	n/a
35	NR2F2	chr19:45316692-45317380	K562	blood:	n/a	chr19:45316958-45316973 chr19:45316893-45316908 chr19:45316932-45316947
36	CTCF	chr19:45316600-45316949	H1-hESC	embryonic stem cell:	n/a	chr19:45316940-45316949
37	CTCF	chr19:45316660-45316810	AG04450	lung:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:45316789-45316839	GM12892	blood:	n/a
2	chr19:45316789-45316839	MCF-7	breast:	n/a
3	chr19:45316789-45316839	HPAEpiC	pulmonary alveolar:	n/a
4	chr19:45316789-45316839	AG09309	skin:	n/a
5	chr19:45316789-45316839	HRCEpiC	kidney:	n/a
6	chr19:45316789-45316839	HRPEpiC	eye:	n/a
7	chr19:45316789-45316839	IMR90	lung:	fetal
8	chr19:45316789-45316839	AG04450	lung:	fetal
9	chr19:45316789-45316839	PANC-1	pancreas:	n/a
10	chr19:45316789-45316839	SKMC	muscle:	n/a
11	chr19:45316789-45316839	Hepatocyte	liver:	n/a
12	chr19:45316789-45316839	SK-N-MC	brain:	n/a
13	chr19:45316789-45316839	Jurkat	blood:	n/a
14	chr19:45316789-45316839	NH-A	brain:	n/a
15	chr19:45316789-45316839	A549	lung:	n/a
16	chr19:45316789-45316839	Hela-S3	cervix:	n/a
17	chr19:45316789-45316839	PFSK-1	brain:	n/a
18	chr19:45316789-45316839	HEEpiC	esophagus:	n/a
19	chr19:45316789-45316839	LNCaP	prostate:	n/a
20	chr19:45316789-45316839	ProgFib	skin:	n/a
21	chr19:45316789-45316839	AG09319	gingival:	n/a
22	chr19:45316789-45316839	MCF10A-Er-Src	breast:	n/a
23	chr19:45316789-45316839	NT2-D1	testis:	n/a
24	chr19:45316789-45316839	Caco-2	colon:	n/a
25	chr19:45316789-45316839	HL-60	blood:	n/a
26	chr19:45316789-45316839	BJ	skin:	n/a
27	chr19:45316789-45316839	NHBE	bronchial:	n/a
28	chr19:45316789-45316839	AG04449	skin:	fetal
29	chr19:45316789-45316839	GM06990	blood:	n/a
30	chr19:45316789-45316839	NHDF-neo	bronchial:	n/a
31	chr19:45316789-45316839	HIPEpiC	eye:	n/a
32	chr19:45316789-45316839	SAEC	small airway:	n/a
33	chr19:45316789-45316839	K562	blood:	n/a
34	chr19:45316789-45316839	HCM	heart:	n/a
35	chr19:45316789-45316839	ovcar-3	ovarian:	n/a
36	chr19:45316789-45316839	CMK	blood:	n/a
37	chr19:45316789-45316839	BE2_C	brain:	n/a
38	chr19:45316789-45316839	SK-N-SH	brain:	n/a
39	chr19:45316789-45316839	AG10803	skin:	n/a
40	chr19:45316789-45316839	NB4	blood:	n/a
41	chr19:45316789-45316839	HCT-116	colon:	n/a
42	chr19:45316789-45316839	U87	brain:	n/a
43	chr19:45316789-45316839	AoSMC	blood vessel:	n/a
44	chr19:45316789-45316839	GM19239	blood:	n/a
45	chr19:45316789-45316839	HMEC	breast:	n/a
46	chr19:45316789-45316839	H1-hESC	embryonic stem cell:	embryo
47	chr19:45316789-45316839	HCPEpiC	choroid plexus:	n/a
48	chr19:45316789-45316839	HNPCEpiC	eye:	n/a
49	chr19:45316789-45316839	ECC-1	luminal epithelium:	n/a
50	chr19:45316789-45316839	HRE	kidney:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:45316121..45318107-chr19:45322660..45325176,2	K562	blood:
2	chr19:45316439..45318053-chr19:45349513..45351038,2	K562	blood:

Variant related genes	Relation type
BCAM	TF binding region
BCAM	CpG island
ENSG00000187244	Chromatin interaction
ENSG00000130202	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10408993	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1075643	0.98[EUR][1000 genomes]
rs28534944	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2927478	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2927479	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2965161	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2967671	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3810140	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7249750	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73572003	1.00[ASN][1000 genomes]
rs73572006	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8113171	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[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	nsv912117	chr19:45298069-45322744	Weak transcription Bivalent Enhancer ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
2	nsv912118	chr19:45300056-45326664	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv912119	chr19:45304307-45317089	Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	nsv912120	chr19:45304307-45317469	Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
5	nsv912121	chr19:45304307-45319297	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	nsv912122	chr19:45304307-45324516	Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv579862	chr19:45310319-45316807	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
8	nsv912124	chr19:45310319-45318564	Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
9	nsv912125	chr19:45310319-45321841	Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
10	nsv579863	chr19:45310319-45322451	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
11	nsv912126	chr19:45311523-45317089	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
12	nsv912127	chr19:45312114-45316807	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
13	nsv912128	chr19:45312114-45321841	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:45313000-45318200	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr19:45313000-45319000	Weak transcription	Brain Cingulate Gyrus	brain
3	chr19:45313000-45320400	Weak transcription	Rectal Smooth Muscle	rectum
4	chr19:45313000-45325400	Weak transcription	Brain Hippocampus Middle	brain
5	chr19:45313400-45321200	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr19:45313400-45321600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr19:45313600-45317000	Enhancers	Fetal Heart	heart
8	chr19:45313600-45322800	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr19:45313600-45323400	Weak transcription	Colon Smooth Muscle	Colon
10	chr19:45313600-45326400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr19:45313600-45326600	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr19:45314000-45318600	Weak transcription	Fetal Brain Male	brain
13	chr19:45314000-45321200	Weak transcription	Liver	Liver
14	chr19:45314000-45323400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr19:45314000-45323600	Weak transcription	HSMMtube	muscle
16	chr19:45314200-45319400	Genic enhancers	Fetal Muscle Trunk	muscle
17	chr19:45314200-45323200	Weak transcription	Right Atrium	heart
18	chr19:45314400-45318000	Strong transcription	Ovary	ovary
19	chr19:45314400-45318600	Strong transcription	Aorta	Aorta
20	chr19:45314400-45319000	Strong transcription	NHEK	skin
21	chr19:45314600-45317000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr19:45314600-45318800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr19:45314600-45319000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr19:45314600-45319200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr19:45314600-45322200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr19:45314600-45323800	Strong transcription	Fetal Stomach	stomach
27	chr19:45314600-45326200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr19:45314800-45319200	Strong transcription	Lung	lung
29	chr19:45314800-45319200	Strong transcription	Right Ventricle	heart
30	chr19:45315200-45318600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr19:45315200-45319200	Strong transcription	H1 Cell Line	embryonic stem cell
32	chr19:45315200-45320000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr19:45315400-45318600	Strong transcription	Spleen	Spleen
34	chr19:45315400-45319000	Strong transcription	Gastric	stomach
35	chr19:45315600-45317000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr19:45315800-45317400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr19:45315800-45319000	Strong transcription	Skeletal Muscle Male	skeletal muscle
38	chr19:45315800-45321400	Weak transcription	Colonic Mucosa	Colon
39	chr19:45315800-45324200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr19:45316000-45317400	Genic enhancers	HepG2	liver
41	chr19:45316200-45318600	Strong transcription	Pancreas	Pancrea
42	chr19:45316200-45319000	Strong transcription	HUES48 Cell Line	embryonic stem cell
43	chr19:45316200-45319200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
44	chr19:45316400-45317200	Strong transcription	Esophagus	oesophagus
45	chr19:45316400-45318000	Strong transcription	NHLF	lung
46	chr19:45316400-45318800	Strong transcription	Left Ventricle	heart
47	chr19:45316400-45319200	Strong transcription	HUES64 Cell Line	embryonic stem cell
48	chr19:45316400-45319200	Strong transcription	Adipose Nuclei	Adipose
49	chr19:45316600-45317400	Strong transcription	HUVEC	blood vessel
50	chr19:45316600-45317600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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