Variant report

Variant	rs544210174
Chromosome Location	chr19:45251194-45251195
allele	A/C
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	chr19:45250852-45251494	HepG2	liver:	n/a	chr19:45250878-45250887
2	MAZ	chr19:45250301-45252241	GM12878	blood:	n/a	chr19:45250878-45250887
3	GATA2	chr19:45250994-45251636	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr19:45250600-45251742	SK-N-MC	brain:	n/a	n/a
5	MAX	chr19:45250518-45251593	SK-N-SH	brain:	n/a	chr19:45250878-45250887
6	ZBTB33	chr19:45250651-45251662	A549	lung:	n/a	n/a
7	RCOR1	chr19:45250786-45251707	GM12878	blood:	n/a	n/a
8	MAZ	chr19:45250381-45252178	Hela-S3	cervix:	n/a	chr19:45250878-45250887
9	SMC3	chr19:45250473-45251686	Hela-S3	cervix:	n/a	chr19:45250753-45250763 chr19:45250639-45250649
10	POLR2A	chr19:45250618-45251632	HCT-116	colon:	n/a	n/a
11	POLR2A	chr19:45250230-45252136	PFSK-1	brain:	n/a	n/a
12	ZNF143	chr19:45250524-45251678	H1-hESC	embryonic stem cell:	n/a	n/a
13	EP300	chr19:45250387-45252152	SK-N-SH	brain:	n/a	chr19:45251827-45251843 chr19:45251823-45251839
14	GATA3	chr19:45250389-45252188	A549	lung:	n/a	n/a
15	NRF1	chr19:45250731-45251600	GM12878	blood:	n/a	chr19:45250751-45250760
16	SP1	chr19:45249857-45252171	A549	lung:	n/a	chr19:45250751-45250760 chr19:45250749-45250760 chr19:45250674-45250684 chr19:45250750-45250760 chr19:45250750-45250764 chr19:45250749-45250761 chr19:45250793-45250802 chr19:45250674-45250683 chr19:45250850-45250864 chr19:45250750-45250759 chr19:45250673-45250685 chr19:45250674-45250683 chr19:45250674-45250688 chr19:45250750-45250759 chr19:45250817-45250828 chr19:45250674-45250684 chr19:45250675-45250684 chr19:45250801-45250812 chr19:45250673-45250685 chr19:45250749-45250761 chr19:45250750-45250760 chr19:45250115-45250125
17	ZBTB7A	chr19:45250459-45251199	ECC-1	luminal epithelium:	n/a	n/a
18	TAF1	chr19:45250764-45251678	PFSK-1	brain:	n/a	n/a
19	RCOR1	chr19:45249356-45252341	IMR90	lung:	n/a	n/a
20	POLR2A	chr19:45250479-45252237	K562	blood:	n/a	n/a
21	NFIC	chr19:45250494-45252125	SK-N-SH	brain:	n/a	n/a
22	EP300	chr19:45250659-45252182	GM12878	blood:	n/a	chr19:45251827-45251843 chr19:45251823-45251839
23	POLR2A	chr19:45251186-45251670	A549	lung:	n/a	n/a
24	POLR2A	chr19:45251130-45251680	HUVEC	blood vessel:	n/a	n/a
25	JUND	chr19:45250219-45252555	A549	lung:	n/a	chr19:45250880-45250887 chr19:45252543-45252552 chr19:45250877-45250888 chr19:45252545-45252554 chr19:45250716-45250724 chr19:45250875-45250886 chr19:45252546-45252555 chr19:45252542-45252551 chr19:45250879-45250887 chr19:45250845-45250854 chr19:45250879-45250887 chr19:45252544-45252553
26	POLR2A	chr19:45250248-45251693	U87	brain:	n/a	n/a
27	REST	chr19:45250818-45251455	PFSK-1	brain:	n/a	n/a
28	ZBTB7A	chr19:45250531-45252587	ECC-1	luminal epithelium:	n/a	n/a
29	POLR2A	chr19:45250446-45252250	GM19193	blood:	n/a	n/a
30	REST	chr19:45251172-45251676	A549	lung:	n/a	n/a
31	NR3C1	chr19:45250072-45251675	A549	lung:	n/a	chr19:45250716-45250725
32	NFIC	chr19:45250579-45251663	ECC-1	luminal epithelium:	n/a	n/a
33	FOSL2	chr19:45249383-45251814	A549	lung:	n/a	chr19:45250880-45250887 chr19:45250716-45250724 chr19:45250875-45250886 chr19:45250879-45250887 chr19:45250845-45250854 chr19:45250879-45250887
34	POLR2A	chr19:45250596-45252356	HUVEC	blood vessel:	n/a	n/a
35	POLR2A	chr19:45250493-45251684	HUVEC	blood vessel:	n/a	n/a
36	REST	chr19:45249690-45251673	A549	lung:	n/a	n/a
37	EP300	chr19:45250419-45252259	ECC-1	luminal epithelium:	n/a	chr19:45251827-45251843 chr19:45251823-45251839
38	PBX3	chr19:45249921-45252169	A549	lung:	n/a	n/a
39	JUND	chr19:45250265-45251218	A549	lung:	n/a	chr19:45250880-45250887 chr19:45250877-45250888 chr19:45250716-45250724 chr19:45250875-45250886 chr19:45250879-45250887 chr19:45250845-45250854 chr19:45250879-45250887
40	GABPA	chr19:45250974-45251686	A549	lung:	n/a	n/a
41	MAX	chr19:45250500-45251851	ECC-1	luminal epithelium:	n/a	chr19:45250878-45250887
42	MAX	chr19:45249618-45252538	A549	lung:	n/a	chr19:45250878-45250887
43	MAZ	chr19:45250201-45252293	HepG2	liver:	n/a	chr19:45250878-45250887
44	POLR2A	chr19:45250689-45251542	Gliobla	brain:	n/a	n/a
45	MAX	chr19:45249987-45252141	A549	lung:	n/a	chr19:45250878-45250887
46	RXRA	chr19:45250329-45252114	SK-N-SH	brain:	n/a	n/a
47	ETS1	chr19:45250229-45251647	A549	lung:	n/a	chr19:45250751-45250762 chr19:45250938-45250951 chr19:45250675-45250686
48	TAF1	chr19:45251179-45251536	SK-N-SH	brain:	n/a	n/a
49	MXI1	chr19:45250646-45251668	Hela-S3	cervix:	n/a	n/a
50	PBX3	chr19:45250381-45252182	A549	lung:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:45251180-45251230	HUVEC	blood vessel:	n/a
2	chr19:45251180-45251230	PrEC	prostate:	n/a
3	chr19:45251180-45251230	HCF	heart:	n/a
4	chr19:45251180-45251230	IMR90	lung:	fetal
5	chr19:45251180-45251230	H1-hESC	embryonic stem cell:	embryo
6	chr19:45251180-45251230	SK-N-SH_RA	brain:	n/a
7	chr19:45251180-45251230	Hepatocyte	liver:	n/a
8	chr19:45251180-45251230	AG04449	skin:	fetal
9	chr19:45251180-45251230	HIPEpiC	eye:	n/a
10	chr19:45251180-45251230	SKMC	muscle:	n/a
11	chr19:45251180-45251230	HAEpiC	amniotic membrane:	n/a
12	chr19:45251180-45251230	HEEpiC	esophagus:	n/a
13	chr19:45251180-45251230	Caco-2	colon:	n/a
14	chr19:45251180-45251230	ProgFib	skin:	n/a
15	chr19:45251180-45251230	SK-N-SH	brain:	n/a
16	chr19:45251180-45251230	BJ	skin:	n/a
17	chr19:45251180-45251230	RPTEC	kidney:	n/a
18	chr19:45251180-45251230	NT2-D1	testis:	n/a
19	chr19:45251180-45251230	HRCEpiC	kidney:	n/a
20	chr19:45251180-45251230	GM12891	blood:	n/a
21	chr19:45251180-45251230	AG09319	gingival:	n/a
22	chr19:45251180-45251230	MCF-7	breast:	n/a
23	chr19:45251180-45251230	AG09309	skin:	n/a
24	chr19:45251180-45251230	HPAEpiC	pulmonary alveolar:	n/a
25	chr19:45251180-45251230	GM06990	blood:	n/a
26	chr19:45251180-45251230	NB4	blood:	n/a
27	chr19:45251180-45251230	NH-A	brain:	n/a
28	chr19:45251180-45251230	PFSK-1	brain:	n/a
29	chr19:45251180-45251230	HepG2	liver:	n/a
30	chr19:45251180-45251230	PANC-1	pancreas:	n/a
31	chr19:45251180-45251230	NHBE	bronchial:	n/a
32	chr19:45251180-45251230	T-47D	breast:	n/a
33	chr19:45251180-45251230	HNPCEpiC	eye:	n/a
34	chr19:45251180-45251230	HCT-116	colon:	n/a
35	chr19:45251180-45251230	A549	lung:	n/a
36	chr19:45251180-45251230	HEK293	kidney:	embryo
37	chr19:45251180-45251230	GM19239	blood:	n/a
38	chr19:45251180-45251230	SAEC	small airway:	n/a
39	chr19:45251180-45251230	CMK	blood:	n/a
40	chr19:45251180-45251230	SK-N-MC	brain:	n/a
41	chr19:45251180-45251230	HL-60	blood:	n/a
42	chr19:45251180-45251230	GM12892	blood:	n/a
43	chr19:45251180-45251230	LNCaP	prostate:	n/a
44	chr19:45251180-45251230	HCPEpiC	choroid plexus:	n/a
45	chr19:45251180-45251230	ECC-1	luminal epithelium:	n/a
46	chr19:45251180-45251230	Hela-S3	cervix:	n/a
47	chr19:45251180-45251230	K562	blood:	n/a
48	chr19:45251180-45251230	ovcar-3	ovarian:	n/a
49	chr19:45251180-45251230	GM12878	blood:	n/a
50	chr19:45251180-45251230	BE2_C	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:45164861..45166953-chr19:45250378..45253353,2	MCF-7	breast:
2	chr19:45173518..45176542-chr19:45249418..45252711,3	MCF-7	breast:
3	chr19:45250646..45253385-chr19:45348787..45352398,5	MCF-7	breast:
4	chr19:45180699..45183749-chr19:45249057..45252629,3	MCF-7	breast:
5	chr19:45249129..45253567-chr19:45309146..45313529,6	MCF-7	breast:
6	chr19:45250268..45252334-chr19:45593239..45597540,3	MCF-7	breast:
7	chr19:45250044..45254049-chr19:45347224..45351011,6	MCF-7	breast:
8	chr19:45250785..45254453-chr19:45309921..45313662,4	MCF-7	breast:
9	chr19:45222394..45233722-chr19:45248498..45258065,33	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CBLC-4	chr19:45251093-45251385	NONHSAT066718

Variant related genes	Relation type
BCL3	TF binding region
BCL3	CpG island
ENSG00000252200	Chromatin interaction
ENSG00000130202	Chromatin interaction
ENSG00000186567	Chromatin interaction
ENSG00000267348	Chromatin interaction
ENSG00000187244	Chromatin interaction
ENSG00000104866	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912116	chr19:45146103-45298069	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
2	nsv833841	chr19:45208486-45308043	Enhancers Bivalent/Poised TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
3	esv3335183	chr19:45225161-45253316	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	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	esv3324918	chr19:45250737-45253285	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	esv3447789	chr19:45251012-45253160	Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:45243800-45252000	Weak transcription	Gastric	stomach
2	chr19:45248200-45251600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
3	chr19:45249600-45251400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr19:45249800-45251600	Flanking Active TSS	Stomach Smooth Muscle	stomach
5	chr19:45249800-45253200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
6	chr19:45250000-45251600	Flanking Active TSS	Fetal Intestine Small	intestine
7	chr19:45250200-45251200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr19:45250200-45251600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr19:45250200-45251600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr19:45250200-45251600	Flanking Active TSS	GM12878-XiMat	blood
11	chr19:45250200-45252400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
12	chr19:45250200-45252800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
13	chr19:45250200-45252800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
14	chr19:45250200-45252800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
15	chr19:45250400-45251200	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr19:45250400-45251200	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr19:45250400-45251200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
18	chr19:45250400-45251200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
19	chr19:45250400-45251600	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
20	chr19:45250400-45251600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
21	chr19:45250400-45251600	Flanking Active TSS	Primary B cells from peripheral blood	blood
22	chr19:45250400-45251600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
23	chr19:45250400-45251600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
24	chr19:45250400-45251600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
25	chr19:45250400-45251600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
26	chr19:45250400-45251600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
27	chr19:45250400-45251600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr19:45250400-45251600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
29	chr19:45250400-45251600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
30	chr19:45250400-45251600	Flanking Active TSS	Fetal Muscle Trunk	muscle
31	chr19:45250400-45251600	Flanking Active TSS	Fetal Muscle Leg	muscle
32	chr19:45250400-45251600	Bivalent Enhancer	Dnd41	blood
33	chr19:45250400-45252600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
34	chr19:45250400-45252600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr19:45250400-45252600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
36	chr19:45250400-45252800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr19:45250400-45252800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr19:45250400-45252800	Active TSS	Psoas Muscle	Psoas
39	chr19:45250400-45253200	Active TSS	Brain Inferior Temporal Lobe	brain
40	chr19:45250400-45254000	Active TSS	Sigmoid Colon	Sigmoid Colon
41	chr19:45250600-45251200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr19:45250600-45251200	Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr19:45250600-45251200	Active TSS	Primary neutrophils fromperipheralblood	blood
44	chr19:45250600-45251200	Active TSS	Primary T cells from cord blood	blood
45	chr19:45250600-45251200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr19:45250600-45251200	Active TSS	Brain Substantia Nigra	brain
47	chr19:45250600-45251200	Active TSS	Colonic Mucosa	Colon
48	chr19:45250600-45251200	Active TSS	Skeletal Muscle Female	skeletal muscle
49	chr19:45250600-45251200	Active TSS	Hela-S3	cervix
50	chr19:45250600-45251200	Active TSS	HSMMtube	muscle

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