Variant report

Variant	rs3840942
Chromosome Location	chr19:44031553-44031554
allele	-/CT
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	POLR2A	chr19:44031056-44031713	GM12892	blood:	n/a	n/a
2	POLR2A	chr19:44031009-44031637	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr19:44031077-44031744	GM12891	blood:	n/a	n/a
4	MAX	chr19:44031112-44031678	HepG2	liver:	n/a	chr19:44031460-44031470
5	ELF1	chr19:44031051-44031597	GM12878	blood:	n/a	chr19:44031457-44031469
6	POLR2A	chr19:44031084-44031573	A549	lung:	n/a	n/a
7	TBP	chr19:44031180-44031572	HepG2	liver:	n/a	n/a
8	FOS	chr19:44031503-44031829	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr19:44031014-44031620	ProgFib	skin:	n/a	n/a
10	HCFC1	chr19:44031296-44031629	K562	blood:	n/a	n/a
11	EGR1	chr19:44031031-44031772	HCT-116	colon:	n/a	chr19:44031412-44031425 chr19:44031412-44031426 chr19:44031415-44031425 chr19:44031411-44031426 chr19:44031412-44031425 chr19:44031415-44031424 chr19:44031412-44031425 chr19:44031412-44031425 chr19:44031487-44031500 chr19:44031408-44031430
12	POLR2A	chr19:44031126-44031665	NB4	blood:	n/a	n/a
13	MAX	chr19:44031099-44031841	K562	blood:	n/a	chr19:44031460-44031470
14	SIN3A	chr19:44030426-44031650	H1-hESC	embryonic stem cell:	n/a	chr19:44031454-44031465
15	FOSL2	chr19:44031158-44031732	A549	lung:	n/a	chr19:44031410-44031419
16	POLR2A	chr19:44031108-44031594	HepG2	liver:	n/a	n/a
17	POLR2A	chr19:44031105-44031690	GM18951	blood:	n/a	n/a
18	POLR2A	chr19:44031114-44031694	GM15510	blood:	n/a	n/a
19	REST	chr19:44030804-44031689	H1-neurons	neurons:	n/a	chr19:44031457-44031470 chr19:44030823-44030836 chr19:44031023-44031031
20	MAX	chr19:44031243-44031757	GM12878	blood:	n/a	chr19:44031460-44031470
21	POLR2A	chr19:44030948-44031705	K562	blood:	n/a	n/a
22	POLR2A	chr19:44031087-44031622	HL-60	blood:	n/a	n/a
23	TBP	chr19:44031211-44031636	K562	blood:	n/a	n/a
24	RAD21	chr19:44031229-44031586	H1-hESC	embryonic stem cell:	n/a	chr19:44031369-44031383 chr19:44031457-44031469
25	POLR2A	chr19:44031009-44031826	SK-N-MC	brain:	n/a	n/a
26	YY1	chr19:44031017-44031559	A549	lung:	n/a	chr19:44031414-44031423 chr19:44031412-44031423
27	POLR2A	chr19:44031046-44031692	H1-neurons	neurons:	n/a	n/a
28	TAF1	chr19:44030917-44031616	A549	lung:	n/a	n/a
29	FOXP2	chr19:44031108-44031564	PFSK-1	brain:	n/a	n/a
30	POLR2A	chr19:44031098-44031582	H1-neurons	neurons:	n/a	n/a
31	POLR2A	chr19:44031022-44031651	MCF-7	breast:	n/a	n/a
32	JUND	chr19:44031217-44031707	K562	blood:	n/a	chr19:44031410-44031419
33	YY1	chr19:44031062-44031595	SK-N-SH_RA	brain:	n/a	chr19:44031414-44031423 chr19:44031412-44031423
34	E2F6	chr19:44031198-44031744	H1-hESC	embryonic stem cell:	n/a	n/a
35	MAX	chr19:44031129-44031694	MCF-7	breast:	n/a	chr19:44031460-44031470
36	WRNIP1	chr19:44031492-44031851	GM12878	blood:	n/a	n/a
37	PML	chr19:44030575-44031864	GM12878	blood:	n/a	n/a
38	MAZ	chr19:44031144-44031640	HepG2	liver:	n/a	chr19:44031460-44031470
39	STAT3	chr19:44031495-44031829	MCF10A-Er-Src	breast:	n/a	n/a
40	TBP	chr19:44031334-44031695	GM12878	blood:	n/a	n/a
41	MAX	chr19:44031071-44031800	ECC-1	luminal epithelium:	n/a	chr19:44031460-44031470
42	ZNF384	chr19:44031413-44031774	GM12878	blood:	n/a	n/a
43	ZNF384	chr19:44031230-44031751	K562	blood:	n/a	n/a
44	EGR1	chr19:44031207-44031569	K562	blood:	n/a	chr19:44031412-44031425 chr19:44031412-44031426 chr19:44031415-44031425 chr19:44031411-44031426 chr19:44031412-44031425 chr19:44031415-44031424 chr19:44031412-44031425 chr19:44031412-44031425 chr19:44031487-44031500 chr19:44031408-44031430
45	MAX	chr19:44031046-44031798	ECC-1	luminal epithelium:	n/a	chr19:44031460-44031470
46	TFAP2C	chr19:44030886-44031861	Hela-S3	cervix:	n/a	chr19:44031670-44031685
47	MAX	chr19:44031225-44031656	K562	blood:	n/a	chr19:44031460-44031470
48	POLR2A	chr19:44031124-44031628	K562	blood:	n/a	n/a
49	POLR2A	chr19:44031100-44031581	HUVEC	blood vessel:	n/a	n/a
50	MAX	chr19:44030956-44031811	A549	lung:	n/a	chr19:44031460-44031470

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:44031462..44033806-chr19:44035675..44037338,2	K562	blood:
2	chr19:44029247..44034379-chr19:44035166..44038879,9	MCF-7	breast:

Variant related genes	Relation type
ETHE1	TF binding region
ENSG00000176472	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055872	chr19:43173614-44075193	Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv544009	chr19:43173614-44075193	Enhancers ZNF genes & repeats Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv1067126	chr19:43260649-44075194	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv544015	chr19:43260649-44075194	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	nsv1057657	chr19:43302497-44076564	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
6	nsv1059631	chr19:43316978-44075054	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
7	nsv544030	chr19:43316978-44075054	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
8	nsv532820	chr19:43807486-44080610	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
9	nsv1056721	chr19:43808474-44095077	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
10	nsv532821	chr19:43842383-44357315	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer 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	62 gene(s)	inside rSNPs	diseases
11	nsv1058162	chr19:43846238-44055058	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
12	nsv1056785	chr19:44010370-44081601	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
13	nsv912107	chr19:44030998-44055726	Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
14	esv2603270	chr19:44031553-44031554	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
15	esv2229304	chr19:44031553-44031555	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 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	chr19:44028800-44031800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
2	chr19:44028800-44031800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr19:44029000-44031800	Active TSS	Sigmoid Colon	Sigmoid Colon
4	chr19:44029000-44032000	Flanking Active TSS	Primary hematopoietic stem cells	blood
5	chr19:44029200-44031800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr19:44029200-44032000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr19:44029200-44032000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr19:44029200-44032000	Active TSS	Fetal Intestine Large	intestine
9	chr19:44029400-44031600	Active TSS	Fetal Intestine Small	intestine
10	chr19:44029400-44031800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr19:44029400-44031800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
12	chr19:44029400-44031800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
13	chr19:44029400-44032000	Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr19:44029400-44032200	Active TSS	Esophagus	oesophagus
15	chr19:44029400-44032200	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr19:44029400-44032400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr19:44029600-44031600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
18	chr19:44029600-44031600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr19:44029600-44031800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
20	chr19:44029600-44031800	Flanking Active TSS	Primary B cells from cord blood	blood
21	chr19:44029600-44031800	Active TSS	Fetal Kidney	kidney
22	chr19:44029600-44032200	Flanking Active TSS	Dnd41	blood
23	chr19:44029600-44032200	Active TSS	NHLF	lung
24	chr19:44029800-44031600	Active TSS	Small Intestine	intestine
25	chr19:44029800-44031600	Active TSS	Hela-S3	cervix
26	chr19:44029800-44031800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
27	chr19:44029800-44031800	Flanking Active TSS	Primary B cells from peripheral blood	blood
28	chr19:44029800-44031800	Active TSS	Primary T helper naive cells from peripheral blood	blood
29	chr19:44029800-44031800	Active TSS	Aorta	Aorta
30	chr19:44029800-44031800	Active TSS	HMEC	breast
31	chr19:44029800-44032000	Active TSS	NHEK	skin
32	chr19:44030000-44031600	Active TSS	Gastric	stomach
33	chr19:44030000-44031600	Active TSS	Rectal Mucosa Donor 31	rectum
34	chr19:44030000-44031800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
35	chr19:44030000-44031800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
36	chr19:44030000-44031800	Active TSS	Colon Smooth Muscle	Colon
37	chr19:44030000-44031800	Active TSS	Ovary	ovary
38	chr19:44030000-44031800	Active TSS	GM12878-XiMat	blood
39	chr19:44030000-44031800	Active TSS	HSMM	muscle
40	chr19:44030000-44031800	Active TSS	HSMMtube	muscle
41	chr19:44030000-44032000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
42	chr19:44030000-44032000	Active TSS	Rectal Smooth Muscle	rectum
43	chr19:44030000-44032000	Active TSS	NHDF-Ad	bronchial
44	chr19:44030200-44031600	Active TSS	Duodenum Mucosa	Duodenum
45	chr19:44030200-44031800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr19:44030200-44031800	Active TSS	A549	lung
47	chr19:44030200-44032000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr19:44030200-44032200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr19:44030200-44032200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr19:44030400-44031600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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