Variant report

Variant	rs527626029
Chromosome Location	chr2:128173854-128173855
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	RAD21	chr2:128173306-128173864	A549	lung:	n/a	chr2:128173818-128173828 chr2:128173625-128173638
2	CTCF	chr2:128173084-128173906	H1-hESC	embryonic stem cell:	n/a	chr2:128173626-128173639 chr2:128173624-128173642
3	CTCF	chr2:128173485-128173878	H1-hESC	embryonic stem cell:	n/a	chr2:128173626-128173639 chr2:128173624-128173642
4	RAD21	chr2:128173220-128173968	ECC-1	luminal epithelium:	n/a	chr2:128173818-128173828 chr2:128173625-128173638
5	HMGN3	chr2:128173381-128174003	K562	blood:	n/a	n/a
6	RAD21	chr2:128173300-128173901	MCF-7	breast:	n/a	chr2:128173818-128173828 chr2:128173625-128173638
7	CTCF	chr2:128173380-128173930	MCF-7	breast:	n/a	chr2:128173626-128173639 chr2:128173624-128173642
8	CTCF	chr2:128173800-128173950	HRPEpiC	eye:	n/a	n/a
9	MAX	chr2:128173061-128174069	A549	lung:	n/a	chr2:128173535-128173542 chr2:128173536-128173545
10	RAD21	chr2:128173359-128173902	ECC-1	luminal epithelium:	n/a	chr2:128173818-128173828 chr2:128173625-128173638
11	MXI1	chr2:128173044-128174206	SK-N-SH	brain:	n/a	n/a
12	RAD21	chr2:128173288-128173895	H1-hESC	embryonic stem cell:	n/a	chr2:128173818-128173828 chr2:128173625-128173638
13	YY1	chr2:128173452-128173951	GM12892	blood:	n/a	chr2:128173622-128173636 chr2:128173625-128173639
14	E2F6	chr2:128173185-128173886	H1-hESC	embryonic stem cell:	n/a	n/a
15	CREB1	chr2:128173398-128174007	GM12878	blood:	n/a	n/a
16	RAD21	chr2:128173373-128173884	A549	lung:	n/a	chr2:128173818-128173828 chr2:128173625-128173638
17	CTCF	chr2:128173436-128173911	H1-hESC	embryonic stem cell:	n/a	chr2:128173626-128173639 chr2:128173624-128173642
18	RAD21	chr2:128173194-128174030	H1-hESC	embryonic stem cell:	n/a	chr2:128173818-128173828 chr2:128173625-128173638
19	TCF12	chr2:128173367-128173980	A549	lung:	n/a	chr2:128173642-128173649
20	BCLAF1	chr2:128173386-128173871	GM12878	blood:	n/a	chr2:128173613-128173626
21	CTCF	chr2:128173290-128173974	K562	blood:	n/a	chr2:128173626-128173639 chr2:128173624-128173642
22	CTCF	chr2:128173427-128173900	GM12878	blood:	n/a	chr2:128173626-128173639 chr2:128173624-128173642
23	RAD21	chr2:128173195-128174065	HCT-116	colon:	n/a	chr2:128173818-128173828 chr2:128173625-128173638
24	GABPA	chr2:128173284-128173931	H1-hESC	embryonic stem cell:	n/a	chr2:128173348-128173357
25	CTBP2	chr2:128173356-128174131	H1-hESC	embryonic stem cell:	n/a	n/a
26	EBF1	chr2:128173712-128173961	GM12878	blood:	n/a	n/a
27	SMC3	chr2:128172992-128173996	SK-N-SH	brain:	n/a	chr2:128173626-128173640
28	POLR2A	chr2:128173311-128173894	ECC-1	luminal epithelium:	n/a	n/a
29	MXI1	chr2:128173305-128173891	H1-hESC	embryonic stem cell:	n/a	n/a
30	TCF12	chr2:128173212-128173993	ECC-1	luminal epithelium:	n/a	chr2:128173642-128173649
31	RAD21	chr2:128173243-128173904	H1-hESC	embryonic stem cell:	n/a	chr2:128173818-128173828 chr2:128173625-128173638
32	HA-E2F1	chr2:128173322-128174329	MCF-7	breast:	n/a	chr2:128174076-128174085 chr2:128174070-128174087 chr2:128174077-128174084
33	RAD21	chr2:128173258-128174030	HCT-116	colon:	n/a	chr2:128173818-128173828 chr2:128173625-128173638
34	MAX	chr2:128173147-128174061	HCT-116	colon:	n/a	chr2:128173535-128173542 chr2:128173536-128173545
35	ZBTB7A	chr2:128173503-128173860	K562	blood:	n/a	n/a
36	ATF2	chr2:128173331-128173856	H1-hESC	embryonic stem cell:	n/a	n/a
37	E2F6	chr2:128173152-128173916	A549	lung:	n/a	n/a
38	MAX	chr2:128173183-128173991	H1-hESC	embryonic stem cell:	n/a	chr2:128173535-128173542 chr2:128173536-128173545
39	MAX	chr2:128173258-128173891	H1-hESC	embryonic stem cell:	n/a	chr2:128173535-128173542 chr2:128173536-128173545
40	TCF7L2	chr2:128173342-128173855	HCT-116	colon:	n/a	n/a
41	E2F6	chr2:128173063-128173937	H1-hESC	embryonic stem cell:	n/a	n/a
42	RAD21	chr2:128173232-128174455	SK-N-SH	brain:	n/a	chr2:128174120-128174132 chr2:128173818-128173828 chr2:128173625-128173638 chr2:128174120-128174130
43	MAX	chr2:128173186-128173869	MCF-7	breast:	n/a	chr2:128173535-128173542 chr2:128173536-128173545
44	EBF1	chr2:128173653-128174305	GM12878	blood:	n/a	n/a
45	CTCF	chr2:128173821-128173878	GM20000	blood:	n/a	n/a
46	SIN3AK20	chr2:128173375-128174056	PANC-1	pancreas:	n/a	n/a
47	RAD21	chr2:128173436-128173863	MCF-7	breast:	n/a	chr2:128173818-128173828 chr2:128173625-128173638
48	MAX	chr2:128173276-128173894	MCF-7	breast:	n/a	chr2:128173535-128173542 chr2:128173536-128173545
49	CTCF	chr2:128173034-128174370	SK-N-SH	brain:	n/a	chr2:128173626-128173639 chr2:128173624-128173642
50	MTA3	chr2:128173229-128174384	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:128167645..128171047-chr2:128172725..128175521,4	MCF-7	breast:
2	chr2:128081908..128082904-chr2:128173401..128174161,4	K562	blood:
3	chr2:128171833..128175442-chr2:128179888..128182308,3	MCF-7	breast:
4	chr2:128172111..128174190-chr2:128184627..128187597,2	MCF-7	breast:

Variant related genes	Relation type
PROC	TF binding region
ENSG00000115718	Chromatin interaction
ENSG00000264075	Chromatin interaction

Extended variants
information (count: 1 )
Associated
traits (count: 0)

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv583036	chr2:128173819-128183914	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:128171200-128174200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr2:128171400-128174000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr2:128172400-128174000	Enhancers	Lung	lung
4	chr2:128172400-128174800	Enhancers	Spleen	Spleen
5	chr2:128172800-128176800	Weak transcription	NHDF-Ad	bronchial
6	chr2:128173000-128174200	Enhancers	Sigmoid Colon	Sigmoid Colon
7	chr2:128173000-128174200	Enhancers	Small Intestine	intestine
8	chr2:128173000-128174800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
9	chr2:128173200-128174000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
10	chr2:128173200-128174000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
11	chr2:128173200-128174000	Flanking Active TSS	Primary hematopoietic stem cells	blood
12	chr2:128173200-128174000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
13	chr2:128173200-128174000	Flanking Active TSS	A549	lung
14	chr2:128173200-128174200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
15	chr2:128173200-128174200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
16	chr2:128173200-128174200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
17	chr2:128173200-128174200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr2:128173200-128174200	Flanking Active TSS	Adipose Nuclei	Adipose
19	chr2:128173200-128174200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
20	chr2:128173200-128174200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
21	chr2:128173200-128174200	Flanking Active TSS	HMEC	breast
22	chr2:128173200-128174200	Flanking Active TSS	NHEK	skin
23	chr2:128173200-128174400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
24	chr2:128173200-128174400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr2:128173200-128174400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr2:128173200-128174400	Flanking Active TSS	Duodenum Mucosa	Duodenum
27	chr2:128173200-128174600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
28	chr2:128173200-128174600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
29	chr2:128173200-128174600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr2:128173200-128174800	Flanking Active TSS	Liver	Liver
31	chr2:128173400-128174000	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr2:128173400-128174000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr2:128173400-128174000	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr2:128173400-128174000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr2:128173400-128174000	Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr2:128173400-128174000	Active TSS	Primary T cells from cord blood	blood
37	chr2:128173400-128174000	Active TSS	Pancreatic Islets	Pancreatic Islet
38	chr2:128173400-128174000	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
39	chr2:128173400-128174000	Flanking Active TSS	Left Ventricle	heart
40	chr2:128173400-128174000	Flanking Active TSS	Ovary	ovary
41	chr2:128173400-128174000	Flanking Active TSS	HUVEC	blood vessel
42	chr2:128173400-128174000	Flanking Active TSS	NH-A	brain
43	chr2:128173400-128174200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
44	chr2:128173400-128174200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
45	chr2:128173400-128174200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
46	chr2:128173400-128174200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
47	chr2:128173400-128174200	Flanking Active TSS	Primary B cells from peripheral blood	blood
48	chr2:128173400-128174200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr2:128173400-128174200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
50	chr2:128173400-128174200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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