Variant report

Variant	rs35315120
Chromosome Location	chr19:45251207-45251208
allele	-/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	TAF1	chr19:45250764-45251678	PFSK-1	brain:	n/a	n/a
18	RCOR1	chr19:45249356-45252341	IMR90	lung:	n/a	n/a
19	POLR2A	chr19:45250479-45252237	K562	blood:	n/a	n/a
20	NFIC	chr19:45250494-45252125	SK-N-SH	brain:	n/a	n/a
21	EP300	chr19:45250659-45252182	GM12878	blood:	n/a	chr19:45251827-45251843 chr19:45251823-45251839
22	POLR2A	chr19:45251186-45251670	A549	lung:	n/a	n/a
23	POLR2A	chr19:45251130-45251680	HUVEC	blood vessel:	n/a	n/a
24	SPI1	chr19:45251207-45251508	GM12878	blood:	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	MYC	chr19:45251203-45251333	MCF-7	breast:	n/a	n/a
27	POLR2A	chr19:45250248-45251693	U87	brain:	n/a	n/a
28	REST	chr19:45250818-45251455	PFSK-1	brain:	n/a	n/a
29	ZBTB7A	chr19:45250531-45252587	ECC-1	luminal epithelium:	n/a	n/a
30	POLR2A	chr19:45250446-45252250	GM19193	blood:	n/a	n/a
31	REST	chr19:45251172-45251676	A549	lung:	n/a	n/a
32	NR3C1	chr19:45250072-45251675	A549	lung:	n/a	chr19:45250716-45250725
33	NFIC	chr19:45250579-45251663	ECC-1	luminal epithelium:	n/a	n/a
34	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
35	POLR2A	chr19:45250596-45252356	HUVEC	blood vessel:	n/a	n/a
36	POLR2A	chr19:45250493-45251684	HUVEC	blood vessel:	n/a	n/a
37	REST	chr19:45249690-45251673	A549	lung:	n/a	n/a
38	EP300	chr19:45250419-45252259	ECC-1	luminal epithelium:	n/a	chr19:45251827-45251843 chr19:45251823-45251839
39	PBX3	chr19:45249921-45252169	A549	lung:	n/a	n/a
40	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
41	GABPA	chr19:45250974-45251686	A549	lung:	n/a	n/a
42	MAX	chr19:45250500-45251851	ECC-1	luminal epithelium:	n/a	chr19:45250878-45250887
43	MAX	chr19:45249618-45252538	A549	lung:	n/a	chr19:45250878-45250887
44	MAZ	chr19:45250201-45252293	HepG2	liver:	n/a	chr19:45250878-45250887
45	POLR2A	chr19:45250689-45251542	Gliobla	brain:	n/a	n/a
46	MAX	chr19:45249987-45252141	A549	lung:	n/a	chr19:45250878-45250887
47	RXRA	chr19:45250329-45252114	SK-N-SH	brain:	n/a	n/a
48	ETS1	chr19:45250229-45251647	A549	lung:	n/a	chr19:45250751-45250762 chr19:45250938-45250951 chr19:45250675-45250686
49	TAF1	chr19:45251179-45251536	SK-N-SH	brain:	n/a	n/a
50	MXI1	chr19:45250646-45251668	Hela-S3	cervix:	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
ENSG00000187244	Chromatin interaction
ENSG00000130202	Chromatin interaction
ENSG00000104866	Chromatin interaction
ENSG00000186567	Chromatin interaction
ENSG00000252200	Chromatin interaction
ENSG00000267348	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:127 , 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	chr19:45250200-45251600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr19:45250200-45251600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr19:45250200-45251600	Flanking Active TSS	GM12878-XiMat	blood
10	chr19:45250200-45252400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
11	chr19:45250200-45252800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
12	chr19:45250200-45252800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
13	chr19:45250200-45252800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
14	chr19:45250400-45251600	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
15	chr19:45250400-45251600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
16	chr19:45250400-45251600	Flanking Active TSS	Primary B cells from peripheral blood	blood
17	chr19:45250400-45251600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
18	chr19:45250400-45251600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
19	chr19:45250400-45251600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
20	chr19:45250400-45251600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
21	chr19:45250400-45251600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
22	chr19:45250400-45251600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr19:45250400-45251600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
24	chr19:45250400-45251600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
25	chr19:45250400-45251600	Flanking Active TSS	Fetal Muscle Trunk	muscle
26	chr19:45250400-45251600	Flanking Active TSS	Fetal Muscle Leg	muscle
27	chr19:45250400-45251600	Bivalent Enhancer	Dnd41	blood
28	chr19:45250400-45252600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
29	chr19:45250400-45252600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr19:45250400-45252600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
31	chr19:45250400-45252800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr19:45250400-45252800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr19:45250400-45252800	Active TSS	Psoas Muscle	Psoas
34	chr19:45250400-45253200	Active TSS	Brain Inferior Temporal Lobe	brain
35	chr19:45250400-45254000	Active TSS	Sigmoid Colon	Sigmoid Colon
36	chr19:45250600-45251400	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr19:45250600-45251400	Active TSS	Duodenum Smooth Muscle	Duodenum
38	chr19:45250600-45251600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
39	chr19:45250600-45251600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr19:45250600-45251600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
41	chr19:45250600-45251600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
42	chr19:45250600-45251600	Flanking Active TSS	Placenta	Placenta
43	chr19:45250600-45252400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
44	chr19:45250600-45252400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr19:45250600-45252600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
46	chr19:45250600-45252600	Active TSS	Colon Smooth Muscle	Colon
47	chr19:45250600-45252600	Active TSS	Placenta Amnion	Placenta Amnion
48	chr19:45250600-45252600	Active TSS	Rectal Smooth Muscle	rectum
49	chr19:45250600-45252800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
50	chr19:45250600-45252800	Active TSS	Duodenum Mucosa	Duodenum

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