Variant report

Variant	rs536629082
Chromosome Location	chr4:129730517-129730518
allele	A/G
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	RAD21	chr4:129730402-129731208	H1-hESC	embryonic stem cell:	n/a	chr4:129730800-129730814 chr4:129730771-129730780
2	MXI1	chr4:129730257-129734736	IMR90	lung:	n/a	n/a
3	POLR2A	chr4:129730506-129734115	K562	blood:	n/a	n/a
4	REST	chr4:129730404-129731586	H1-neurons	neurons:	n/a	chr4:129730675-129730688
5	POLR2A	chr4:129730508-129731416	U87	brain:	n/a	n/a
6	ZBTB7A	chr4:129730462-129731678	ECC-1	luminal epithelium:	n/a	chr4:129731474-129731488
7	NFIC	chr4:129730449-129731042	ECC-1	luminal epithelium:	n/a	n/a
8	CREB1	chr4:129730516-129731599	H1-hESC	embryonic stem cell:	n/a	n/a
9	MAX	chr4:129730513-129731090	SK-N-SH	brain:	n/a	n/a
10	POLR2A	chr4:129730510-129734063	Raji	blood:	n/a	n/a
11	NFATC1	chr4:129730504-129731060	GM12878	blood:	n/a	n/a
12	FOXM1	chr4:129730376-129731041	GM12878	blood:	n/a	n/a
13	HDAC2	chr4:129730487-129731209	H1-hESC	embryonic stem cell:	n/a	n/a
14	RAD21	chr4:129730481-129731061	A549	lung:	n/a	chr4:129730800-129730814 chr4:129730771-129730780
15	TCF12	chr4:129730492-129734183	A549	lung:	n/a	chr4:129733244-129733251
16	MAX	chr4:129730407-129734144	A549	lung:	n/a	chr4:129732622-129732632 chr4:129732621-129732632 chr4:129732618-129732633 chr4:129732623-129732630 chr4:129732622-129732631 chr4:129732396-129732406 chr4:129733335-129733345 chr4:129733276-129733286
17	TEAD4	chr4:129730503-129731062	H1-hESC	embryonic stem cell:	n/a	n/a
18	RAD21	chr4:129730428-129731035	HCT-116	colon:	n/a	chr4:129730800-129730814 chr4:129730771-129730780
19	RAD21	chr4:129730457-129731167	HCT-116	colon:	n/a	chr4:129730800-129730814 chr4:129730771-129730780
20	CREB1	chr4:129730514-129732046	K562	blood:	n/a	n/a
21	RUNX3	chr4:129730362-129731049	GM12878	blood:	n/a	n/a
22	RAD21	chr4:129730297-129732679	SK-N-SH	brain:	n/a	chr4:129730800-129730814 chr4:129730771-129730780
23	ZNF263	chr4:129730500-129731454	HEK293-T-REx	kidney:	n/a	chr4:129731393-129731402
24	TBL1XR1	chr4:129730490-129731486	K562	blood:	n/a	n/a
25	NFIC	chr4:129730470-129731472	ECC-1	luminal epithelium:	n/a	n/a
26	ATF2	chr4:129730484-129731078	GM12878	blood:	n/a	n/a
27	EP300	chr4:129730410-129731498	SK-N-SH	brain:	n/a	chr4:129731330-129731346 chr4:129731383-129731392 chr4:129730441-129730448
28	MAX	chr4:129730500-129731492	K562	blood:	n/a	n/a
29	NR2F2	chr4:129730513-129731071	K562	blood:	n/a	n/a
30	YY1	chr4:129730503-129730993	H1-hESC	embryonic stem cell:	n/a	n/a
31	RAD21	chr4:129730507-129731091	ECC-1	luminal epithelium:	n/a	chr4:129730800-129730814 chr4:129730771-129730780
32	POLR2A	chr4:129730494-129731455	HCT-116	colon:	n/a	n/a
33	YY1	chr4:129730470-129731668	SK-N-SH	brain:	n/a	chr4:129731377-129731391
34	GATA1	chr4:129730516-129731370	PBDE	blood:	n/a	n/a
35	SMC3	chr4:129730483-129731045	GM12878	blood:	n/a	n/a
36	EP300	chr4:129730479-129731034	ECC-1	luminal epithelium:	n/a	n/a
37	CTCF	chr4:129730513-129731073	MCF-7	breast:	n/a	chr4:129730800-129730813
38	MAX	chr4:129730478-129731071	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr4:129730508-129731880	U87	brain:	n/a	n/a
40	BCLAF1	chr4:129730435-129731089	K562	blood:	n/a	chr4:129730676-129730689 chr4:129730683-129730696
41	RAD21	chr4:129730487-129731433	H1-hESC	embryonic stem cell:	n/a	chr4:129730800-129730814 chr4:129730771-129730780
42	POLR2A	chr4:129730403-129730969	U87	brain:	n/a	n/a
43	RAD21	chr4:129730499-129731054	A549	lung:	n/a	chr4:129730800-129730814 chr4:129730771-129730780
44	MXI1	chr4:129730323-129734550	SK-N-SH	brain:	n/a	n/a
45	BCL3	chr4:129730461-129730961	A549	lung:	n/a	chr4:129730676-129730689 chr4:129730683-129730696
46	SIN3A	chr4:129730502-129734891	H1-hESC	embryonic stem cell:	n/a	chr4:129733253-129733264 chr4:129731333-129731344 chr4:129733562-129733573 chr4:129733243-129733256 chr4:129730996-129731009 chr4:129732631-129732640
47	RAD21	chr4:129730497-129732724	IMR90	lung:	n/a	chr4:129730800-129730814 chr4:129730771-129730780
48	SMC3	chr4:129730483-129731454	K562	blood:	n/a	n/a
49	MAX	chr4:129730472-129731149	A549	lung:	n/a	n/a
50	EP300	chr4:129730478-129730999	A549	lung:	n/a	n/a

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	chr4:129473168..129475213-chr4:129730479..129732295,2	K562	blood:
9	chr4:129209335..129213237-chr4:129730288..129733311,3	K562	blood:
10	chr4:129376012..129378140-chr4:129729596..129731686,2	K562	blood:
11	chr4:129207558..129209105-chr4:129728853..129730896,2	K562	blood:
12	chr4:129472659..129478043-chr4:129729703..129733779,4	K562	blood:
13	chr4:129730340..129733748-chr4:130013373..130016609,5	K562	blood:
14	chr4:129348880..129349601-chr4:129730054..129731203,4	MCF-7	breast:

Variant related genes	Relation type
JADE1	TF binding region
ENSG00000151466	Chromatin interaction
ENSG00000273077	Chromatin interaction
ENSG00000251432	Chromatin interaction
ENSG00000138709	Chromatin interaction
ENSG00000164040	Chromatin interaction
ENSG00000248802	Chromatin interaction
ENSG00000151470	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:116 , 50 per page) page: 1 2 3

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	chr4:129726200-129730800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr4:129726200-129731200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr4:129726800-129730600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr4:129727400-129730600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr4:129730000-129730600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
8	chr4:129730000-129734000	Active TSS	Duodenum Smooth Muscle	Duodenum
9	chr4:129730200-129730600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr4:129730200-129730600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
11	chr4:129730200-129730600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr4:129730200-129730600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr4:129730200-129730600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr4:129730200-129730600	Flanking Active TSS	A549	lung
15	chr4:129730200-129730600	Flanking Active TSS	NHLF	lung
16	chr4:129730200-129730800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
17	chr4:129730200-129730800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr4:129730200-129734200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr4:129730200-129734200	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr4:129730200-129734200	Active TSS	K562	blood
21	chr4:129730200-129734400	Active TSS	NHDF-Ad	bronchial
22	chr4:129730400-129730600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr4:129730400-129730600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
24	chr4:129730400-129730600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr4:129730400-129730600	Flanking Active TSS	Primary B cells from cord blood	blood
26	chr4:129730400-129730600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
27	chr4:129730400-129730600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
28	chr4:129730400-129730600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
29	chr4:129730400-129730600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
30	chr4:129730400-129730600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
31	chr4:129730400-129730600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
32	chr4:129730400-129730600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
33	chr4:129730400-129730600	Active TSS	Adipose Nuclei	Adipose
34	chr4:129730400-129730600	Flanking Active TSS	Duodenum Mucosa	Duodenum
35	chr4:129730400-129730600	Active TSS	Fetal Brain Male	brain
36	chr4:129730400-129730600	Flanking Active TSS	Fetal Heart	heart
37	chr4:129730400-129730600	Flanking Active TSS	Fetal Stomach	stomach
38	chr4:129730400-129730600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
39	chr4:129730400-129730600	Flanking Active TSS	Stomach Mucosa	stomach
40	chr4:129730400-129730600	Flanking Active TSS	Hela-S3	cervix
41	chr4:129730400-129730600	Flanking Active TSS	HepG2	liver
42	chr4:129730400-129730800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr4:129730400-129730800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
44	chr4:129730400-129730800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
45	chr4:129730400-129730800	Flanking Active TSS	Primary B cells from peripheral blood	blood
46	chr4:129730400-129730800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
47	chr4:129730400-129730800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
48	chr4:129730400-129730800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
49	chr4:129730400-129730800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr4:129730400-129730800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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