Variant report

Variant	rs145717888
Chromosome Location	chr19:38875078-38875079
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:121)
CpG islands
(count:61)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:121 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr19:38874881-38875744	H1-hESC	embryonic stem cell:	n/a	chr19:38875536-38875546 chr19:38875532-38875551 chr19:38875534-38875546
2	POLR2A	chr19:38874982-38875180	A549	lung:	n/a	n/a
3	CTCF	chr19:38875020-38875170	BE2_C	brain:	n/a	n/a
4	CTCF	chr19:38875040-38875190	AG04449	skin:	n/a	n/a
5	CTCF	chr19:38875000-38875150	AG04450	lung:	n/a	n/a
6	CTCF	chr19:38874960-38875110	GM12873	blood:	n/a	n/a
7	POLR2A	chr19:38875003-38876118	HepG2	liver:	n/a	n/a
8	POLR2A	chr19:38875018-38875181	MCF-7	breast:	n/a	n/a
9	CTCF	chr19:38875060-38875210	K562	blood:	n/a	n/a
10	CTCF	chr19:38874986-38875199	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr19:38875047-38875122	MCF-7	breast:	n/a	n/a
12	CTCF	chr19:38874940-38875728	H1-hESC	embryonic stem cell:	n/a	chr19:38875535-38875551 chr19:38875529-38875550 chr19:38875534-38875552 chr19:38875536-38875549
13	POLR2A	chr19:38874377-38876119	K562	blood:	n/a	n/a
14	CTCF	chr19:38875040-38875190	GM12875	blood:	n/a	n/a
15	CTCF	chr19:38874943-38875270	K562	blood:	n/a	n/a
16	RAD21	chr19:38875008-38875720	H1-hESC	embryonic stem cell:	n/a	chr19:38875536-38875546 chr19:38875532-38875551 chr19:38875534-38875546
17	POLR2A	chr19:38874843-38876344	SK-N-SH	brain:	n/a	n/a
18	POLR2A	chr19:38874550-38877193	Hela-S3	cervix:	n/a	n/a
19	CTCF	chr19:38874404-38876202	A549	lung:	n/a	chr19:38875535-38875551 chr19:38875529-38875550 chr19:38875534-38875552 chr19:38875536-38875549
20	CTCF	chr19:38875001-38875142	HepG2	liver:	n/a	n/a
21	POLR2A	chr19:38874762-38876307	GM12878	blood:	n/a	n/a
22	CTCF	chr19:38875020-38875170	HepG2	liver:	n/a	n/a
23	POLR2A	chr19:38874642-38875082	U87	brain:	n/a	n/a
24	POLR2A	chr19:38874034-38876600	K562	blood:	n/a	n/a
25	CTCF	chr19:38875020-38875170	HMF	breast:	n/a	n/a
26	POLR2A	chr19:38871440-38886227	PFSK-1	brain:	n/a	n/a
27	POLR2A	chr19:38875068-38875156	ProgFib	skin:	n/a	n/a
28	CTCF	chr19:38875000-38875150	GM12865	blood:	n/a	n/a
29	CTCF	chr19:38875040-38875123	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr19:38874152-38877033	GM12891	blood:	n/a	n/a
31	CTCF	chr19:38875003-38875218	H1-hESC	embryonic stem cell:	n/a	n/a
32	CTCF	chr19:38875020-38875170	GM12874	blood:	n/a	n/a
33	CTCF	chr19:38874940-38875090	HCT-116	colon:	n/a	n/a
34	CTCF	chr19:38875060-38875210	GM12871	blood:	n/a	n/a
35	CTCF	chr19:38875000-38875150	HRPEpiC	eye:	n/a	n/a
36	CTCF	chr19:38875020-38875170	GM12875	blood:	n/a	n/a
37	POLR2A	chr19:38874035-38876338	K562	blood:	n/a	n/a
38	POLR2A	chr19:38874785-38879102	A549	lung:	n/a	n/a
39	POLR2A	chr19:38874581-38876014	PBDE	blood:	n/a	n/a
40	POLR2A	chr19:38874623-38876880	GM12891	blood:	n/a	n/a
41	POLR2A	chr19:38874823-38876241	GM12892	blood:	n/a	n/a
42	CTCF	chr19:38875000-38875150	SAEC	small airway:	n/a	n/a
43	POLR2A	chr19:38875003-38875232	A549	lung:	n/a	n/a
44	POLR2A	chr19:38869603-38879135	K562	blood:	n/a	n/a
45	POLR2A	chr19:38874605-38876529	K562	blood:	n/a	n/a
46	JUND	chr19:38874724-38875293	A549	lung:	n/a	chr19:38874850-38874861 chr19:38874828-38874837
47	POLR2A	chr19:38875038-38875151	GM12878	blood:	n/a	n/a
48	POLR2A	chr19:38874960-38876021	K562	blood:	n/a	n/a
49	YY1	chr19:38874791-38875219	A549	lung:	n/a	chr19:38874828-38874837
50	SIX5	chr19:38874569-38875896	A549	lung:	n/a	chr19:38875719-38875735

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:38875043-38875093	BE2_C	brain:	n/a
2	chr19:38875043-38875093	HEK293	kidney:	embryo
3	chr19:38875043-38875093	SK-N-MC	brain:	n/a
4	chr19:38875043-38875093	GM12892	blood:	n/a
5	chr19:38875043-38875093	HAEpiC	amniotic membrane:	n/a
6	chr19:38875043-38875093	AG04449	skin:	fetal
7	chr19:38875043-38875093	HRE	kidney:	n/a
8	chr19:38875043-38875093	NH-A	brain:	n/a
9	chr19:38875043-38875093	SAEC	small airway:	n/a
10	chr19:38875043-38875093	BJ	skin:	n/a
11	chr19:38875043-38875093	AG04450	lung:	fetal
12	chr19:38875043-38875093	T-47D	breast:	n/a
13	chr19:38875043-38875093	HL-60	blood:	n/a
14	chr19:38875043-38875093	HIPEpiC	eye:	n/a
15	chr19:38875043-38875093	AoSMC	blood vessel:	n/a
16	chr19:38875043-38875093	HCF	heart:	n/a
17	chr19:38875043-38875093	SK-N-SH_RA	brain:	n/a
18	chr19:38875043-38875093	NHBE	bronchial:	n/a
19	chr19:38875043-38875093	GM06990	blood:	n/a
20	chr19:38875043-38875093	PrEC	prostate:	n/a
21	chr19:38875043-38875093	Hepatocyte	liver:	n/a
22	chr19:38875043-38875093	HCPEpiC	choroid plexus:	n/a
23	chr19:38875043-38875093	NT2-D1	testis:	n/a
24	chr19:38875043-38875093	AG09309	skin:	n/a
25	chr19:38875043-38875093	HepG2	liver:	n/a
26	chr19:38875043-38875093	HRPEpiC	eye:	n/a
27	chr19:38875043-38875093	HPAEpiC	pulmonary alveolar:	n/a
28	chr19:38875043-38875093	NHDF-neo	bronchial:	n/a
29	chr19:38875043-38875093	PFSK-1	brain:	n/a
30	chr19:38875043-38875093	MCF10A-Er-Src	breast:	n/a
31	chr19:38875043-38875093	HCT-116	colon:	n/a
32	chr19:38875043-38875093	HUVEC	blood vessel:	n/a
33	chr19:38875043-38875093	GM12878	blood:	n/a
34	chr19:38875043-38875093	Jurkat	blood:	n/a
35	chr19:38875043-38875093	GM12891	blood:	n/a
36	chr19:38875043-38875093	SK-N-SH	brain:	n/a
37	chr19:38875043-38875093	HEEpiC	esophagus:	n/a
38	chr19:38875043-38875093	K562	blood:	n/a
39	chr19:38875043-38875093	NB4	blood:	n/a
40	chr19:38875043-38875093	SKMC	muscle:	n/a
41	chr19:38875043-38875093	ProgFib	skin:	n/a
42	chr19:38875043-38875093	HNPCEpiC	eye:	n/a
43	chr19:38875043-38875093	HRCEpiC	kidney:	n/a
44	chr19:38875043-38875093	HMEC	breast:	n/a
45	chr19:38875043-38875093	HCM	heart:	n/a
46	chr19:38875043-38875093	AG09319	gingival:	n/a
47	chr19:38875043-38875093	AG10803	skin:	n/a
48	chr19:38875043-38875093	ECC-1	luminal epithelium:	n/a
49	chr19:38875043-38875093	U87	brain:	n/a
50	chr19:38875043-38875093	ovcar-3	ovarian:	n/a

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:38873942..38878444-chr19:38892255..38895006,5	K562	blood:
2	chr19:38719348..38721458-chr19:38874867..38876458,2	K562	blood:
3	chr19:38738211..38740106-chr19:38872606..38875319,2	K562	blood:
4	chr19:38804471..38807313-chr19:38874109..38876554,2	MCF-7	breast:
5	chr19:38870927..38872589-chr19:38873604..38875519,2	MCF-7	breast:
6	chr19:38724375..38725000-chr19:38875077..38875830,2	MCF-7	breast:
7	chr19:38824957..38829265-chr19:38874295..38879043,8	MCF-7	breast:
8	chr19:38854277..38857061-chr19:38874070..38875932,2	K562	blood:

No data

Variant related genes	Relation type
SPRED3	TF binding region
ENSG00000267090	TF binding region
ENSG00000267090	CpG island
SPRED3	CpG island
ENSG00000099341	Chromatin interaction
ENSG00000099338	Chromatin interaction
ENSG00000011332	Chromatin interaction
ENSG00000167645	Chromatin interaction
ENSG00000130244	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063471	chr19:38734744-39148392	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	73 gene(s)	inside rSNPs	diseases
2	nsv833822	chr19:38760748-38945105	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
3	nsv911658	chr19:38785318-39002140	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
4	nsv470140	chr19:38840139-39119494	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
5	nsv911659	chr19:38852357-39002140	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
6	nsv911660	chr19:38852357-39060238	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Strong transcription Weak transcription Genic enhancers 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	41 gene(s)	inside rSNPs	diseases
7	nsv833823	chr19:38855550-39035800	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
8	nsv1064275	chr19:38859865-38913251	Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
9	nsv911661	chr19:38872335-38894829	Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
10	nsv911662	chr19:38872634-38895809	Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
11	esv1803709	chr19:38874828-38900078	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38866400-38876000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:38867000-38875600	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr19:38867000-38877200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr19:38867000-38878000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr19:38867200-38875200	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr19:38867200-38875400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr19:38867200-38877000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr19:38867200-38877200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr19:38867200-38877400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr19:38867400-38875800	Strong transcription	Rectal Mucosa Donor 29	rectum
11	chr19:38867600-38875200	Strong transcription	Liver	Liver
12	chr19:38867600-38875400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr19:38867600-38875600	Strong transcription	Fetal Intestine Small	intestine
14	chr19:38867600-38875800	Strong transcription	Primary T cells from cord blood	blood
15	chr19:38867600-38876000	Strong transcription	Primary B cells from peripheral blood	blood
16	chr19:38867600-38876200	Strong transcription	Brain Cingulate Gyrus	brain
17	chr19:38867600-38877400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr19:38867800-38875200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr19:38867800-38875200	Strong transcription	Thymus	Thymus
20	chr19:38867800-38875400	Strong transcription	Duodenum Mucosa	Duodenum
21	chr19:38867800-38875600	Strong transcription	Colon Smooth Muscle	Colon
22	chr19:38867800-38875800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr19:38867800-38875800	Strong transcription	Brain Inferior Temporal Lobe	brain
24	chr19:38867800-38876200	Strong transcription	Adipose Nuclei	Adipose
25	chr19:38867800-38876200	Strong transcription	Brain Hippocampus Middle	brain
26	chr19:38867800-38876600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr19:38867800-38877000	Strong transcription	Muscle Satellite Cultured Cells	--
28	chr19:38868000-38875600	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr19:38868000-38875800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr19:38868000-38876000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr19:38868000-38876000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr19:38868000-38876200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr19:38868000-38877600	Weak transcription	Right Atrium	heart
34	chr19:38868400-38876400	Strong transcription	Colonic Mucosa	Colon
35	chr19:38868800-38875400	Strong transcription	Primary T helper cells PMA-I stimulated	--
36	chr19:38868800-38876000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr19:38869400-38875200	Strong transcription	Left Ventricle	heart
38	chr19:38869400-38875200	Strong transcription	A549	lung
39	chr19:38869400-38875400	Strong transcription	Osteobl	bone
40	chr19:38869400-38876000	Strong transcription	K562	blood
41	chr19:38869400-38876400	Strong transcription	HMEC	breast
42	chr19:38869600-38875200	Strong transcription	Duodenum Smooth Muscle	Duodenum
43	chr19:38869600-38875200	Strong transcription	Fetal Thymus	thymus
44	chr19:38869600-38875600	Strong transcription	Psoas Muscle	Psoas
45	chr19:38869600-38875800	Strong transcription	Brain Angular Gyrus	brain
46	chr19:38869600-38876200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr19:38869600-38876400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr19:38869600-38876600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr19:38869600-38877400	Strong transcription	Cortex derived primary cultured neurospheres	brain
50	chr19:38869600-38877800	Strong transcription	NHLF	lung

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