Variant report

Variant	rs186439226
Chromosome Location	chr4:95678631-95678632
allele	C/T
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	MXI1	chr4:95677488-95681982	SK-N-SH	brain:	n/a	chr4:95679721-95679730
2	MAX	chr4:95678600-95680454	A549	lung:	n/a	chr4:95679555-95679566 chr4:95679555-95679566 chr4:95679555-95679565 chr4:95679554-95679567
3	POLR2A	chr4:95678612-95679216	PFSK-1	brain:	n/a	n/a
4	MXI1	chr4:95678575-95680180	IMR90	lung:	n/a	chr4:95679721-95679730
5	POLR2A	chr4:95678469-95679094	PFSK-1	brain:	n/a	n/a
6	POLR2A	chr4:95678205-95680130	MCF10A-Er-Src	breast:	n/a	n/a
7	RAD21	chr4:95677342-95679343	SK-N-SH	brain:	n/a	n/a
8	CTCF	chr4:95678600-95678750	BJ	skin:	n/a	n/a
9	POLR2A	chr4:95678565-95679131	H1-neurons	neurons:	n/a	n/a
10	TCF12	chr4:95678623-95679171	ECC-1	luminal epithelium:	n/a	n/a
11	CHD1	chr4:95677993-95680028	IMR90	lung:	n/a	chr4:95679126-95679136 chr4:95679131-95679141
12	POLR2A	chr4:95678431-95679074	H1-neurons	neurons:	n/a	n/a
13	TAF1	chr4:95678598-95679185	A549	lung:	n/a	n/a
14	TCF12	chr4:95678529-95679134	A549	lung:	n/a	n/a
15	POLR2A	chr4:95678486-95680216	MCF10A-Er-Src	breast:	n/a	n/a
16	REST	chr4:95678572-95679081	A549	lung:	n/a	chr4:95678846-95678856

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:95675993..95678993-chr6:26054520..26056880,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-UNC5C-1	chr4:95678545-95678684	XLOC_004019
2	lnc-UNC5C-1	chr4:95678545-95679011	XLOC_004019
3	lnc-UNC5C-1	chr4:95678545-95679036	NONHSAT097457

Variant related genes	Relation type
BMPR1B	TF binding region
ENSG00000187837	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 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

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:95677800-95681800	Active TSS	A549	lung
2	chr4:95678000-95678800	Flanking Active TSS	HUVEC	blood vessel
3	chr4:95678000-95679000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
4	chr4:95678000-95680000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr4:95678000-95680200	Active TSS	NH-A	brain
6	chr4:95678000-95682000	Active TSS	Stomach Smooth Muscle	stomach
7	chr4:95678200-95678800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
8	chr4:95678200-95678800	Bivalent Enhancer	Fetal Brain Male	brain
9	chr4:95678200-95679000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
10	chr4:95678200-95679000	Flanking Bivalent TSS/Enh	Dnd41	blood
11	chr4:95678200-95679600	Bivalent/Poised TSS	Brain Germinal Matrix	brain
12	chr4:95678200-95680000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr4:95678200-95680400	Active TSS	Aorta	Aorta
14	chr4:95678200-95680400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
15	chr4:95678200-95680400	Active TSS	HMEC	breast
16	chr4:95678400-95678800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
17	chr4:95678400-95678800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr4:95678400-95679000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr4:95678400-95679400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr4:95678400-95679600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr4:95678400-95679600	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr4:95678400-95679600	Active TSS	Fetal Brain Female	brain
23	chr4:95678400-95679800	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr4:95678400-95679800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr4:95678400-95680000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr4:95678400-95680000	Bivalent/Poised TSS	Thymus	Thymus
27	chr4:95678400-95680200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr4:95678400-95680200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr4:95678400-95680400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
30	chr4:95678400-95680600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
31	chr4:95678400-95680600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
32	chr4:95678400-95680600	Active TSS	Ovary	ovary
33	chr4:95678400-95680800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr4:95678400-95680800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
35	chr4:95678600-95678800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
36	chr4:95678600-95678800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr4:95678600-95678800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
38	chr4:95678600-95678800	Bivalent Enhancer	Primary B cells from cord blood	blood
39	chr4:95678600-95678800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
40	chr4:95678600-95678800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
41	chr4:95678600-95678800	Flanking Bivalent TSS/Enh	Liver	Liver
42	chr4:95678600-95678800	Flanking Active TSS	Brain Cingulate Gyrus	brain
43	chr4:95678600-95678800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
44	chr4:95678600-95678800	Bivalent/Poised TSS	Colonic Mucosa	Colon
45	chr4:95678600-95678800	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
46	chr4:95678600-95678800	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
47	chr4:95678600-95678800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
48	chr4:95678600-95678800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
49	chr4:95678600-95678800	Bivalent Enhancer	Placenta	Placenta
50	chr4:95678600-95678800	Active TSS	Gastric	stomach

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