Variant report

Variant	rs371642710
Chromosome Location	chr19:19174072-19174073
allele	A/G
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	PML	chr19:19173241-19174472	K562	blood:	n/a	n/a
2	POLR2A	chr19:19174059-19175188	GM18951	blood:	n/a	n/a
3	POLR2A	chr19:19173887-19174997	GM12878	blood:	n/a	n/a
4	POLR2A	chr19:19173957-19174834	H1-hESC	embryonic stem cell:	n/a	n/a
5	CUX1	chr19:19173902-19174464	K562	blood:	n/a	n/a
6	CHD2	chr19:19174019-19175094	H1-hESC	embryonic stem cell:	n/a	chr19:19174953-19174963
7	RCOR1	chr19:19172800-19175463	IMR90	lung:	n/a	n/a
8	CHD2	chr19:19174014-19175056	Hela-S3	cervix:	n/a	chr19:19174953-19174963
9	MXI1	chr19:19173889-19175237	GM12878	blood:	n/a	n/a
10	MYC	chr19:19173277-19175247	K562	blood:	n/a	n/a
11	CBX3	chr19:19173110-19174697	K562	blood:	n/a	n/a
12	MAX	chr19:19173910-19175008	ECC-1	luminal epithelium:	n/a	n/a
13	SP1	chr19:19174001-19175185	HepG2	liver:	n/a	chr19:19174510-19174519 chr19:19174519-19174540 chr19:19174510-19174520 chr19:19174969-19174978 chr19:19174748-19174769 chr19:19174509-19174521 chr19:19174757-19174767 chr19:19174358-19174369 chr19:19174803-19174812 chr19:19175167-19175177 chr19:19174511-19174520 chr19:19174510-19174519 chr19:19174801-19174813 chr19:19174509-19174521 chr19:19174510-19174520
14	ARID3A	chr19:19173214-19174819	K562	blood:	n/a	n/a
15	NR2F2	chr19:19173943-19174440	K562	blood:	n/a	n/a
16	BCL3	chr19:19174009-19174838	A549	lung:	n/a	n/a
17	NFYA	chr19:19173698-19174878	GM12878	blood:	n/a	chr19:19174660-19174675 chr19:19174708-19174718 chr19:19174660-19174675 chr19:19174747-19174762 chr19:19174747-19174762 chr19:19174706-19174719 chr19:19174747-19174761
18	POLR2A	chr19:19173954-19175251	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr19:19173765-19175002	Hela-S3	cervix:	n/a	n/a
20	FOXM1	chr19:19174060-19175129	GM12878	blood:	n/a	n/a
21	EBF1	chr19:19174066-19174799	GM12878	blood:	n/a	chr19:19174280-19174290 chr19:19174364-19174375 chr19:19174364-19174373
22	POLR2A	chr19:19174032-19176008	GM12878	blood:	n/a	n/a
23	POLR2A	chr19:19173827-19174887	SK-N-SH	brain:	n/a	n/a
24	MYBL2	chr19:19173674-19174920	HepG2	liver:	n/a	n/a
25	JUN	chr19:19172291-19175360	K562	blood:	n/a	chr19:19173411-19173418 chr19:19173406-19173417 chr19:19173409-19173418 chr19:19173408-19173420 chr19:19174664-19174673
26	RCOR1	chr19:19172826-19175177	K562	blood:	n/a	n/a
27	PML	chr19:19173718-19174581	K562	blood:	n/a	n/a
28	NFIC	chr19:19174037-19174553	HepG2	liver:	n/a	n/a
29	POLR2A	chr19:19173942-19175441	GM12892	blood:	n/a	n/a
30	SP1	chr19:19173978-19174992	A549	lung:	n/a	chr19:19174510-19174519 chr19:19174519-19174540 chr19:19174510-19174520 chr19:19174969-19174978 chr19:19174748-19174769 chr19:19174509-19174521 chr19:19174757-19174767 chr19:19174358-19174369 chr19:19174803-19174812 chr19:19174511-19174520 chr19:19174510-19174519 chr19:19174801-19174813 chr19:19174509-19174521 chr19:19174510-19174520
31	ELF1	chr19:19173902-19175633	GM12878	blood:	n/a	n/a
32	MYC	chr19:19173862-19175176	NB4	blood:	n/a	n/a
33	NFYB	chr19:19173746-19175156	GM12878	blood:	n/a	chr19:19174660-19174675 chr19:19174708-19174718 chr19:19174660-19174675 chr19:19174747-19174762 chr19:19174747-19174762 chr19:19174706-19174719 chr19:19174747-19174761 chr19:19174657-19174672
34	ESR1	chr19:19174071-19174532	T-47D	breast:	n/a	chr19:19174116-19174133
35	POLR2A	chr19:19172863-19174890	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr19:19174009-19175183	HUVEC	blood vessel:	n/a	n/a
37	POLR2A	chr19:19173864-19174991	GM12878	blood:	n/a	n/a
38	E2F4	chr19:19173881-19175089	K562	blood:	n/a	chr19:19174530-19174539 chr19:19174749-19174758 chr19:19174404-19174414
39	PML	chr19:19173732-19175262	GM12878	blood:	n/a	n/a
40	POLR2A	chr19:19173853-19175285	HL-60	blood:	n/a	n/a
41	POLR2A	chr19:19172969-19175517	HepG2	liver:	n/a	n/a
42	SP2	chr19:19174019-19174845	HepG2	liver:	n/a	chr19:19174675-19174698 chr19:19174069-19174078 chr19:19174532-19174555 chr19:19174397-19174420
43	TAF1	chr19:19173973-19174995	ECC-1	luminal epithelium:	n/a	n/a
44	POLR2A	chr19:19173697-19175067	HL-60	blood:	n/a	n/a
45	E2F6	chr19:19173765-19174710	H1-hESC	embryonic stem cell:	n/a	chr19:19174530-19174539 chr19:19174404-19174414
46	RUNX3	chr19:19173721-19174770	GM12878	blood:	n/a	n/a
47	POLR2A	chr19:19173137-19174884	K562	blood:	n/a	n/a
48	SIN3A	chr19:19173963-19175393	H1-hESC	embryonic stem cell:	n/a	chr19:19175196-19175209
49	POLR2A	chr19:19173887-19175458	Hela-S3	cervix:	n/a	n/a
50	POLR2A	chr19:19173918-19174427	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:19172859..19177096-chr19:19213191..19220004,7	K562	blood:
2	chr19:19169646..19176603-chr19:19241603..19250623,23	K562	blood:
3	chr19:19141992..19145925-chr19:19172787..19177854,10	K562	blood:
4	chr19:19129913..19132824-chr19:19171752..19174736,2	K562	blood:
5	chr19:18943405..18943938-chr19:19173944..19174627,2	MCF-7	breast:
6	chr19:19162360..19163114-chr19:19173888..19174551,2	MCF-7	breast:
7	chr19:19170341..19177029-chr19:19229928..19235464,11	K562	blood:
8	chr19:19170465..19178046-chr19:19213939..19220242,15	K562	blood:
9	chr19:19171826..19174275-chr19:19223519..19227124,3	K562	blood:
10	chr19:19109933..19111022-chr19:19173938..19174740,6	MCF-7	breast:
11	chr19:19042101..19044216-chr19:19173856..19175729,2	K562	blood:
12	chr19:19172595..19175925-chr19:19247411..19251399,4	MCF-7	breast:
13	chr19:19110096..19111022-chr19:19173704..19174740,6	MCF-7	breast:
14	chr19:19169419..19177029-chr19:19229685..19233171,13	K562	blood:
15	chr19:19161417..19167211-chr19:19171135..19175299,5	MCF-7	breast:
16	chr19:19141992..19145825-chr19:19171077..19177701,15	K562	blood:
17	chr12:6716092..6716619-chr19:19173988..19174537,2	HCT-116	colon:
18	chr19:19169646..19176667-chr19:19241603..19249514,19	K562	blood:

Variant related genes	Relation type
SLC25A42	TF binding region
ENSG00000064545	Chromatin interaction
ENSG00000064607	Chromatin interaction
ENSG00000111642	Chromatin interaction
ENSG00000051128	Chromatin interaction
ENSG00000105676	Chromatin interaction
ENSG00000181035	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	nsv833778	chr19:19012669-19201487	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
2	nsv1059305	chr19:19131310-19209999	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
3	nsv543927	chr19:19147376-19178024	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
4	nsv833779	chr19:19163492-19313091	Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats 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	34 gene(s)	inside rSNPs	diseases
5	esv17267	chr19:19174047-19177125	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 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	chr19:19170600-19174200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr19:19170800-19174200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr19:19172200-19174400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
4	chr19:19173000-19174600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr19:19173400-19174200	Enhancers	Spleen	Spleen
6	chr19:19173400-19174200	Flanking Active TSS	K562	blood
7	chr19:19173600-19174200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
8	chr19:19173600-19174400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
9	chr19:19173800-19174200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr19:19173800-19174200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr19:19173800-19174200	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr19:19173800-19174200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr19:19173800-19174200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr19:19173800-19174200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr19:19173800-19174200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
16	chr19:19173800-19174200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
17	chr19:19173800-19174200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
18	chr19:19173800-19174200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
19	chr19:19173800-19174200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr19:19173800-19174200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr19:19173800-19174200	Flanking Active TSS	Brain Angular Gyrus	brain
22	chr19:19173800-19174200	Flanking Active TSS	Brain Anterior Caudate	brain
23	chr19:19173800-19174200	Flanking Active TSS	Brain Cingulate Gyrus	brain
24	chr19:19173800-19174200	Flanking Active TSS	Brain Germinal Matrix	brain
25	chr19:19173800-19174200	Flanking Active TSS	Brain Hippocampus Middle	brain
26	chr19:19173800-19174200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
27	chr19:19173800-19174200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
28	chr19:19173800-19174200	Flanking Active TSS	Brain Substantia Nigra	brain
29	chr19:19173800-19174200	Flanking Active TSS	Colon Smooth Muscle	Colon
30	chr19:19173800-19174200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr19:19173800-19174200	Enhancers	Fetal Brain Male	brain
32	chr19:19173800-19174200	Flanking Active TSS	Fetal Brain Female	brain
33	chr19:19173800-19174200	Flanking Active TSS	Fetal Heart	heart
34	chr19:19173800-19174200	Flanking Active TSS	Fetal Intestine Large	intestine
35	chr19:19173800-19174200	Flanking Active TSS	Fetal Muscle Leg	muscle
36	chr19:19173800-19174200	Flanking Active TSS	Stomach Smooth Muscle	stomach
37	chr19:19173800-19174200	Flanking Active TSS	GM12878-XiMat	blood
38	chr19:19173800-19174200	Flanking Active TSS	HepG2	liver
39	chr19:19173800-19174200	Flanking Active TSS	NHDF-Ad	bronchial
40	chr19:19173800-19174400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
41	chr19:19173800-19174400	Flanking Active TSS	Primary B cells from cord blood	blood
42	chr19:19173800-19174400	Flanking Active TSS	Primary T cells from cord blood	blood
43	chr19:19173800-19174400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
44	chr19:19173800-19174400	Flanking Active TSS	Primary hematopoietic stem cells	blood
45	chr19:19173800-19174400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
46	chr19:19173800-19174400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
47	chr19:19173800-19174400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr19:19173800-19174400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr19:19173800-19174400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
50	chr19:19173800-19174400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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