Variant report

Variant	rs375040596
Chromosome Location	chr4:76862021-76862022
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:185)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:185 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr4:76861857-76862164	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr4:76861805-76862289	K562	blood:	n/a	n/a
3	YY1	chr4:76862008-76862212	K562	blood:	n/a	n/a
4	POLR2A	chr4:76861823-76862315	H1-hESC	embryonic stem cell:	n/a	n/a
5	E2F6	chr4:76861940-76862406	K562	blood:	n/a	n/a
6	JUND	chr4:76861707-76862432	K562	blood:	n/a	n/a
7	CHD2	chr4:76861800-76862327	H1-hESC	embryonic stem cell:	n/a	n/a
8	ZNF143	chr4:76861776-76862177	GM12878	blood:	n/a	n/a
9	CEBPB	chr4:76861744-76862072	A549	lung:	n/a	n/a
10	POLR2A	chr4:76861848-76862416	H1-neurons	neurons:	n/a	n/a
11	MTA3	chr4:76861530-76862110	GM12878	blood:	n/a	n/a
12	POLR2A	chr4:76860729-76862379	GM12892	blood:	n/a	n/a
13	GABPA	chr4:76861714-76862451	H1-hESC	embryonic stem cell:	n/a	n/a
14	NR2F2	chr4:76860929-76862406	MCF-7	breast:	n/a	n/a
15	CEBPB	chr4:76861676-76862305	ECC-1	luminal epithelium:	n/a	n/a
16	POLR2A	chr4:76861811-76862373	GM12878	blood:	n/a	n/a
17	MXI1	chr4:76860858-76862599	IMR90	lung:	n/a	n/a
18	MAX	chr4:76860853-76862432	HepG2	liver:	n/a	n/a
19	HEY1	chr4:76861958-76862207	K562	blood:	n/a	n/a
20	MYC	chr4:76860970-76862320	K562	blood:	n/a	n/a
21	MAX	chr4:76860862-76862474	MCF-7	breast:	n/a	n/a
22	POLR2A	chr4:76861713-76862439	A549	lung:	n/a	n/a
23	POLR2A	chr4:76860996-76862279	Hela-S3	cervix:	n/a	n/a
24	HDAC2	chr4:76861805-76862486	K562	blood:	n/a	n/a
25	POLR2A	chr4:76860943-76862413	GM19193	blood:	n/a	n/a
26	TAF1	chr4:76861516-76862389	HepG2	liver:	n/a	n/a
27	TCF12	chr4:76861494-76862177	A549	lung:	n/a	n/a
28	CTCF	chr4:76862007-76862364	K562	blood:	n/a	n/a
29	MAX	chr4:76860764-76862553	HCT-116	colon:	n/a	n/a
30	POLR2A	chr4:76861894-76862284	HepG2	liver:	n/a	n/a
31	POLR2A	chr4:76861823-76862310	A549	lung:	n/a	n/a
32	REST	chr4:76861750-76862194	PFSK-1	brain:	n/a	n/a
33	YY1	chr4:76861654-76862411	HepG2	liver:	n/a	n/a
34	POLR2A	chr4:76860900-76862382	GM18951	blood:	n/a	n/a
35	POLR2A	chr4:76861852-76862231	A549	lung:	n/a	n/a
36	MAX	chr4:76861833-76862286	K562	blood:	n/a	n/a
37	ZNF143	chr4:76861917-76862443	H1-hESC	embryonic stem cell:	n/a	n/a
38	CEBPB	chr4:76861625-76862243	A549	lung:	n/a	n/a
39	POLR2A	chr4:76860905-76862315	GM19099	blood:	n/a	n/a
40	POLR2A	chr4:76860793-76862484	PFSK-1	brain:	n/a	n/a
41	POLR2A	chr4:76861070-76862374	A549	lung:	n/a	n/a
42	FOXP2	chr4:76861859-76862382	PFSK-1	brain:	n/a	n/a
43	CCNT2	chr4:76861044-76862433	K562	blood:	n/a	n/a
44	MAZ	chr4:76861145-76862403	HepG2	liver:	n/a	n/a
45	HDAC2	chr4:76861716-76862358	HepG2	liver:	n/a	n/a
46	POLR2A	chr4:76861904-76862398	HCT-116	colon:	n/a	n/a
47	POLR2A	chr4:76861775-76862421	HUVEC	blood vessel:	n/a	n/a
48	ELF1	chr4:76860827-76862481	GM12878	blood:	n/a	n/a
49	E2F6	chr4:76861683-76862522	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr4:76860887-76862457	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:76597293..76598968-chr4:76860443..76862946,2	K562	blood:
2	chr4:76861526..76863582-chr4:76870984..76872556,2	K562	blood:
3	chr4:76857067..76859381-chr4:76860422..76862398,2	K562	blood:
4	chr4:76861625..76863720-chr4:76909476..76912300,3	MCF-7	breast:
5	chr4:76859621..76862443-chr4:76895909..76899158,3	K562	blood:

No data

Variant related genes	Relation type
NAAA	TF binding region
ENSG00000138744	Chromatin interaction
ENSG00000268788	Chromatin interaction
ENSG00000198301	Chromatin interaction
ENSG00000138757	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3353539	chr4:76530136-76993859	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv529613	chr4:76654941-77081576	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Active TSS ZNF genes & repeats 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	38 gene(s)	inside rSNPs	diseases
3	nsv1004627	chr4:76793910-76999584	Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh 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
4	esv3396277	chr4:76861228-76865426	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 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	chr4:76860400-76862600	Active TSS	A549	lung
2	chr4:76860600-76862400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr4:76860600-76862600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
4	chr4:76860600-76862600	Active TSS	Colonic Mucosa	Colon
5	chr4:76860600-76862600	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr4:76860600-76862600	Active TSS	Rectal Smooth Muscle	rectum
7	chr4:76860800-76862200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
8	chr4:76860800-76862200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr4:76860800-76862200	Active TSS	Placenta Amnion	Placenta Amnion
10	chr4:76860800-76862200	Active TSS	NHDF-Ad	bronchial
11	chr4:76860800-76862400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr4:76860800-76862400	Active TSS	Primary T helper cells PMA-I stimulated	--
13	chr4:76860800-76862400	Active TSS	Primary T killer memory cells from peripheral blood	blood
14	chr4:76860800-76862400	Active TSS	Brain Angular Gyrus	brain
15	chr4:76860800-76862400	Active TSS	Esophagus	oesophagus
16	chr4:76860800-76862400	Active TSS	Fetal Brain Female	brain
17	chr4:76860800-76862400	Active TSS	Ovary	ovary
18	chr4:76860800-76862400	Active TSS	Right Ventricle	heart
19	chr4:76860800-76862400	Active TSS	Sigmoid Colon	Sigmoid Colon
20	chr4:76860800-76862400	Active TSS	Hela-S3	cervix
21	chr4:76860800-76862600	Active TSS	H9 Cell Line	embryonic stem cell
22	chr4:76860800-76862600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr4:76860800-76862600	Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr4:76860800-76862600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
25	chr4:76860800-76862600	Active TSS	iPS-15b Cell Line	embryonic stem cell
26	chr4:76860800-76862600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr4:76860800-76862600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
28	chr4:76860800-76862600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr4:76860800-76862600	Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr4:76860800-76862600	Active TSS	Primary T cells from cord blood	blood
31	chr4:76860800-76862600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr4:76860800-76862600	Active TSS	Brain Anterior Caudate	brain
33	chr4:76860800-76862600	Active TSS	Brain Cingulate Gyrus	brain
34	chr4:76860800-76862600	Active TSS	Brain Inferior Temporal Lobe	brain
35	chr4:76860800-76862600	Active TSS	Brain Substantia Nigra	brain
36	chr4:76860800-76862600	Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr4:76860800-76862600	Active TSS	Pancreatic Islets	Pancreatic Islet
38	chr4:76860800-76862600	Active TSS	Psoas Muscle	Psoas
39	chr4:76860800-76862600	Active TSS	K562	blood
40	chr4:76860800-76862600	Active TSS	NHLF	lung
41	chr4:76861000-76862200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr4:76861000-76862200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr4:76861000-76862200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr4:76861000-76862200	Active TSS	Primary B cells from peripheral blood	blood
45	chr4:76861000-76862200	Active TSS	Primary T cells fromperipheralblood	blood
46	chr4:76861000-76862200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
47	chr4:76861000-76862200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
48	chr4:76861000-76862200	Active TSS	Fetal Intestine Small	intestine
49	chr4:76861000-76862200	Active TSS	Gastric	stomach
50	chr4:76861000-76862200	Active TSS	Rectal Mucosa Donor 31	rectum

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