Variant report

Variant	rs371263831
Chromosome Location	chr4:129730363-129730364
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	chr4:129730257-129734736	IMR90	lung:	n/a	n/a
2	RUNX3	chr4:129730362-129731049	GM12878	blood:	n/a	n/a
3	RAD21	chr4:129730297-129732679	SK-N-SH	brain:	n/a	chr4:129730800-129730814 chr4:129730771-129730780
4	MXI1	chr4:129730323-129734550	SK-N-SH	brain:	n/a	n/a
5	POLR2A	chr4:129730352-129730485	MCF10A-Er-Src	breast:	n/a	n/a
6	SMC3	chr4:129729992-129732822	SK-N-SH	brain:	n/a	chr4:129732413-129732423
7	CTCF	chr4:129730247-129734217	SK-N-SH	brain:	n/a	chr4:129733243-129733256 chr4:129733527-129733540 chr4:129732410-129732423 chr4:129730800-129730813 chr4:129732484-129732497 chr4:129732753-129732769
8	CTCF	chr4:129730304-129731301	A549	lung:	n/a	chr4:129730800-129730813

No.	Distal block	Cell Line	Cell type
1	chr4:129375160..129378617-chr4:129730147..129733611,3	MCF-7	breast:
2	chr4:128980795..128984031-chr4:129730059..129735028,7	K562	blood:
3	chr4:129374782..129377512-chr4:129729521..129732215,3	K562	blood:
4	chr4:129472709..129474756-chr4:129728389..129731319,2	MCF-7	breast:
5	chr4:128980795..128982891-chr4:129730267..129732892,3	K562	blood:
6	chr4:129518963..129527383-chr4:129727996..129735335,14	K562	blood:
7	chr4:129206178..129209105-chr4:129728853..129732712,4	K562	blood:
8	chr4:129209335..129213237-chr4:129730288..129733311,3	K562	blood:
9	chr4:129376012..129378140-chr4:129729596..129731686,2	K562	blood:
10	chr4:129207558..129209105-chr4:129728853..129730896,2	K562	blood:
11	chr4:129472659..129478043-chr4:129729703..129733779,4	K562	blood:
12	chr4:129730340..129733748-chr4:130013373..130016609,5	K562	blood:
13	chr4:129348880..129349601-chr4:129730054..129731203,4	MCF-7	breast:

Variant related genes	Relation type
JADE1	TF binding region
ENSG00000273077	Chromatin interaction
ENSG00000251432	Chromatin interaction
ENSG00000164040	Chromatin interaction
ENSG00000248802	Chromatin interaction
ENSG00000151466	Chromatin interaction
ENSG00000151470	Chromatin interaction
ENSG00000138709	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	nsv869258	chr4:129191619-130138148	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
2	nsv1020801	chr4:129658178-129778086	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv537248	chr4:129658178-129778086	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
4	nsv822717	chr4:129724785-129739862	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	28 gene(s)	inside rSNPs	n/a
5	esv3340336	chr4:129730252-129734500	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	28 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129723600-129730600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr4:129724800-129730600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:129725000-129730400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr4:129725200-129730400	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr4:129725400-129730400	Weak transcription	Duodenum Mucosa	Duodenum
6	chr4:129725400-129730400	Weak transcription	Stomach Mucosa	stomach
7	chr4:129725600-129730400	Weak transcription	Fetal Intestine Small	intestine
8	chr4:129726200-129730400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr4:129726200-129730400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr4:129726200-129730800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr4:129726200-129731200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr4:129726400-129730400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr4:129726800-129730600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr4:129727200-129730400	Enhancers	Fetal Heart	heart
15	chr4:129727400-129730400	Weak transcription	Placenta	Placenta
16	chr4:129727400-129730600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr4:129729800-129730400	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr4:129730000-129730400	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr4:129730000-129730400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr4:129730000-129730400	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr4:129730000-129730400	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr4:129730000-129730400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr4:129730000-129730400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr4:129730000-129730400	Enhancers	Colon Smooth Muscle	Colon
25	chr4:129730000-129730400	Enhancers	Dnd41	blood
26	chr4:129730000-129730400	Enhancers	Hela-S3	cervix
27	chr4:129730000-129730600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
28	chr4:129730000-129734000	Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr4:129730200-129730400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr4:129730200-129730400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr4:129730200-129730400	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr4:129730200-129730400	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr4:129730200-129730400	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr4:129730200-129730400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr4:129730200-129730400	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr4:129730200-129730400	Enhancers	Primary neutrophils fromperipheralblood	blood
37	chr4:129730200-129730400	Enhancers	Primary B cells from cord blood	blood
38	chr4:129730200-129730400	Enhancers	Primary B cells from peripheral blood	blood
39	chr4:129730200-129730400	Active TSS	Primary hematopoietic stem cells short term culture	blood
40	chr4:129730200-129730400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr4:129730200-129730400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
42	chr4:129730200-129730400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
43	chr4:129730200-129730400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr4:129730200-129730400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr4:129730200-129730400	Enhancers	Muscle Satellite Cultured Cells	--
46	chr4:129730200-129730400	Flanking Active TSS	Adipose Nuclei	Adipose
47	chr4:129730200-129730400	Enhancers	Liver	Liver
48	chr4:129730200-129730400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr4:129730200-129730400	Enhancers	Fetal Lung	lung
50	chr4:129730200-129730400	Enhancers	HUVEC	blood vessel

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