Variant report

Variant	rs374976274
Chromosome Location	chr4:95679070-95679071
allele	-/GGCGGCGGCGGC
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	chr4:95678892-95679260	HUVEC	blood vessel:	n/a	n/a
2	MXI1	chr4:95677488-95681982	SK-N-SH	brain:	n/a	chr4:95679721-95679730
3	MAX	chr4:95678600-95680454	A549	lung:	n/a	chr4:95679555-95679566 chr4:95679555-95679566 chr4:95679555-95679565 chr4:95679554-95679567
4	POLR2A	chr4:95678612-95679216	PFSK-1	brain:	n/a	n/a
5	RAD21	chr4:95678727-95679089	H1-hESC	embryonic stem cell:	n/a	n/a
6	MXI1	chr4:95678575-95680180	IMR90	lung:	n/a	chr4:95679721-95679730
7	MYC	chr4:95678911-95679831	MCF10A-Er-Src	breast:	n/a	chr4:95679555-95679566 chr4:95679555-95679566 chr4:95679555-95679565 chr4:95679554-95679567
8	POLR2A	chr4:95679042-95679843	A549	lung:	n/a	n/a
9	POLR2A	chr4:95679021-95679311	ECC-1	luminal epithelium:	n/a	n/a
10	POLR2A	chr4:95678469-95679094	PFSK-1	brain:	n/a	n/a
11	CTCF	chr4:95678940-95679090	HFF	foreskin:	n/a	n/a
12	CTCF	chr4:95678920-95679070	HPAF	blood vessel:	n/a	n/a
13	POLR2A	chr4:95679034-95679845	A549	lung:	n/a	n/a
14	HA-E2F1	chr4:95678701-95680381	MCF-7	breast:	n/a	chr4:95679542-95679552 chr4:95679544-95679553 chr4:95680197-95680204 chr4:95679618-95679630 chr4:95679539-95679549
15	POLR2A	chr4:95678205-95680130	MCF10A-Er-Src	breast:	n/a	n/a
16	CTCF	chr4:95678940-95679090	NHDF-neo	bronchial:	n/a	n/a
17	RAD21	chr4:95678727-95679112	H1-hESC	embryonic stem cell:	n/a	n/a
18	NFIC	chr4:95678759-95679118	ECC-1	luminal epithelium:	n/a	n/a
19	RAD21	chr4:95677342-95679343	SK-N-SH	brain:	n/a	n/a
20	EP300	chr4:95678767-95679081	SK-N-SH_RA	brain:	n/a	chr4:95678846-95678862
21	POLR2A	chr4:95678565-95679131	H1-neurons	neurons:	n/a	n/a
22	CTCF	chr4:95678920-95679070	HA-sp	spinal cord:	n/a	n/a
23	CTBP2	chr4:95678812-95680327	H1-hESC	embryonic stem cell:	n/a	n/a
24	TCF12	chr4:95678623-95679171	ECC-1	luminal epithelium:	n/a	n/a
25	RAD21	chr4:95678717-95679484	IMR90	lung:	n/a	n/a
26	POLR2A	chr4:95679009-95679844	A549	lung:	n/a	n/a
27	POLR2A	chr4:95678719-95680358	A549	lung:	n/a	n/a
28	POLR2A	chr4:95679005-95679905	A549	lung:	n/a	n/a
29	POLR2A	chr4:95678919-95679972	H1-hESC	embryonic stem cell:	n/a	n/a
30	CHD2	chr4:95678813-95679126	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr4:95678828-95679924	HEK293	kidney:	n/a	n/a
32	TAF1	chr4:95678798-95679739	H1-hESC	embryonic stem cell:	n/a	n/a
33	MAX	chr4:95678728-95679877	ECC-1	luminal epithelium:	n/a	chr4:95679555-95679566 chr4:95679555-95679566 chr4:95679555-95679565 chr4:95679554-95679567
34	CHD1	chr4:95677993-95680028	IMR90	lung:	n/a	chr4:95679126-95679136 chr4:95679131-95679141
35	TAF1	chr4:95678712-95679106	PFSK-1	brain:	n/a	n/a
36	RAD21	chr4:95678755-95679116	SK-N-SH_RA	brain:	n/a	n/a
37	POLR2A	chr4:95678431-95679074	H1-neurons	neurons:	n/a	n/a
38	HDAC2	chr4:95678784-95679082	H1-hESC	embryonic stem cell:	n/a	chr4:95678991-95679005 chr4:95678992-95679006
39	TAF1	chr4:95678598-95679185	A549	lung:	n/a	n/a
40	POLR2A	chr4:95678831-95679108	H1-hESC	embryonic stem cell:	n/a	n/a
41	FOXP2	chr4:95679032-95679849	PFSK-1	brain:	n/a	n/a
42	TCF12	chr4:95678529-95679134	A549	lung:	n/a	n/a
43	POLR2A	chr4:95678486-95680216	MCF10A-Er-Src	breast:	n/a	n/a
44	CTCF	chr4:95678920-95679070	HRE	kidney:	n/a	n/a
45	E2F6	chr4:95679062-95680154	H1-hESC	embryonic stem cell:	n/a	chr4:95679542-95679552 chr4:95679544-95679553 chr4:95679618-95679630 chr4:95679539-95679549
46	RAD21	chr4:95678799-95679078	SK-N-SH_RA	brain:	n/a	n/a
47	RAD21	chr4:95678739-95679114	ECC-1	luminal epithelium:	n/a	n/a
48	TEAD4	chr4:95678706-95679110	ECC-1	luminal epithelium:	n/a	n/a
49	REST	chr4:95678572-95679081	A549	lung:	n/a	chr4:95678846-95678856
50	E2F4	chr4:95678657-95679124	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:95678678..95680883-chr4:96023985..96026151,2	MCF-7	breast:

Variant related genes	Relation type
BMPR1B	TF binding region
ENSG00000249599	TF binding region
ENSG00000138696	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932216	chr4:95501261-96109807	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1003860	chr4:95507683-96120619	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv869528	chr4:95537649-96368018	Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1005816	chr4:95573444-95902704	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	esv1833916	chr4:95673181-95679741	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	esv3407255	chr4:95677954-95680802	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	esv12742	chr4:95678933-95679943	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv594902	chr4:95679013-95679796	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:95677800-95681800	Active TSS	A549	lung
2	chr4:95678000-95680000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr4:95678000-95680200	Active TSS	NH-A	brain
4	chr4:95678000-95682000	Active TSS	Stomach Smooth Muscle	stomach
5	chr4:95678200-95679600	Bivalent/Poised TSS	Brain Germinal Matrix	brain
6	chr4:95678200-95680000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:95678200-95680400	Active TSS	Aorta	Aorta
8	chr4:95678200-95680400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
9	chr4:95678200-95680400	Active TSS	HMEC	breast
10	chr4:95678400-95679400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr4:95678400-95679600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr4:95678400-95679600	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr4:95678400-95679600	Active TSS	Fetal Brain Female	brain
14	chr4:95678400-95679800	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr4:95678400-95679800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr4:95678400-95680000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr4:95678400-95680000	Bivalent/Poised TSS	Thymus	Thymus
18	chr4:95678400-95680200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr4:95678400-95680200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr4:95678400-95680400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
21	chr4:95678400-95680600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
22	chr4:95678400-95680600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
23	chr4:95678400-95680600	Active TSS	Ovary	ovary
24	chr4:95678400-95680800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr4:95678400-95680800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
26	chr4:95678600-95679200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr4:95678600-95679200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr4:95678600-95679600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
29	chr4:95678600-95679600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr4:95678600-95679600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr4:95678600-95679600	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
32	chr4:95678600-95679600	Active TSS	Fetal Kidney	kidney
33	chr4:95678600-95679600	Active TSS	Right Atrium	heart
34	chr4:95678600-95679800	Active TSS	Brain Angular Gyrus	brain
35	chr4:95678600-95679800	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
36	chr4:95678600-95680000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr4:95678600-95680000	Active TSS	Pancreatic Islets	Pancreatic Islet
38	chr4:95678600-95680000	Bivalent/Poised TSS	Left Ventricle	heart
39	chr4:95678600-95680200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
40	chr4:95678600-95680200	Active TSS	Breast Myoepithelial Primary Cells	Breast
41	chr4:95678600-95680200	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
42	chr4:95678600-95680400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr4:95678600-95680400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr4:95678600-95680400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr4:95678600-95680400	Bivalent/Poised TSS	Primary T cells from cord blood	blood
46	chr4:95678600-95680400	Active TSS	Brain Substantia Nigra	brain
47	chr4:95678600-95680400	Bivalent/Poised TSS	Fetal Stomach	stomach
48	chr4:95678600-95680400	Active TSS	Pancreas	Pancrea
49	chr4:95678600-95680600	Active TSS	Brain Anterior Caudate	brain
50	chr4:95678600-95680600	Active TSS	Brain Inferior Temporal Lobe	brain

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