Variant report

Variant	rs554578398
Chromosome Location	chr2:128174061-128174062
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	STAT3	chr2:128174036-128174254	MCF10A-Er-Src	breast:	n/a	chr2:128174231-128174242 chr2:128174233-128174241 chr2:128174064-128174076 chr2:128174230-128174244
2	MAX	chr2:128173061-128174069	A549	lung:	n/a	chr2:128173535-128173542 chr2:128173536-128173545
3	MXI1	chr2:128173044-128174206	SK-N-SH	brain:	n/a	n/a
4	RUNX3	chr2:128173968-128174292	GM12878	blood:	n/a	n/a
5	MYC	chr2:128174027-128174379	NB4	blood:	n/a	n/a
6	RAD21	chr2:128173195-128174065	HCT-116	colon:	n/a	chr2:128173818-128173828 chr2:128173625-128173638
7	MAX	chr2:128174030-128174357	NB4	blood:	n/a	n/a
8	CTBP2	chr2:128173356-128174131	H1-hESC	embryonic stem cell:	n/a	n/a
9	HA-E2F1	chr2:128173322-128174329	MCF-7	breast:	n/a	chr2:128174076-128174085 chr2:128174070-128174087 chr2:128174077-128174084
10	MAX	chr2:128173147-128174061	HCT-116	colon:	n/a	chr2:128173535-128173542 chr2:128173536-128173545
11	RAD21	chr2:128173232-128174455	SK-N-SH	brain:	n/a	chr2:128174120-128174132 chr2:128173818-128173828 chr2:128173625-128173638 chr2:128174120-128174130
12	EBF1	chr2:128173653-128174305	GM12878	blood:	n/a	n/a
13	EGR1	chr2:128174031-128174189	GM12878	blood:	n/a	chr2:128174147-128174156 chr2:128174144-128174157 chr2:128174144-128174157 chr2:128174140-128174162 chr2:128174145-128174159 chr2:128174147-128174157 chr2:128174144-128174157
14	RUNX3	chr2:128173968-128174328	GM12878	blood:	n/a	n/a
15	CTCF	chr2:128173034-128174370	SK-N-SH	brain:	n/a	chr2:128173626-128173639 chr2:128173624-128173642
16	MTA3	chr2:128173229-128174384	GM12878	blood:	n/a	n/a
17	CREB1	chr2:128173304-128174068	H1-hESC	embryonic stem cell:	n/a	n/a
18	NFIC	chr2:128173352-128174079	ECC-1	luminal epithelium:	n/a	chr2:128173826-128173842 chr2:128173825-128173842
19	MAX	chr2:128173146-128174121	ECC-1	luminal epithelium:	n/a	chr2:128173535-128173542 chr2:128173536-128173545
20	MAX	chr2:128173127-128174079	ECC-1	luminal epithelium:	n/a	chr2:128173535-128173542 chr2:128173536-128173545
21	CTCF	chr2:128173027-128174204	A549	lung:	n/a	chr2:128173626-128173639 chr2:128173624-128173642
22	NFIC	chr2:128173275-128174180	ECC-1	luminal epithelium:	n/a	chr2:128173826-128173842 chr2:128173825-128173842
23	ZNF263	chr2:128173256-128174204	HEK293-T-REx	kidney:	n/a	chr2:128174035-128174044

No.	Distal block	Cell Line	Cell type
1	chr2:128050076..128053017-chr2:128173952..128176764,3	MCF-7	breast:
2	chr2:128167645..128171047-chr2:128172725..128175521,4	MCF-7	breast:
3	chr2:128081908..128082904-chr2:128173401..128174161,4	K562	blood:
4	chr2:128171833..128175442-chr2:128179888..128182308,3	MCF-7	breast:
5	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
ENSG00000163161	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:114 , 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	chr2:128172400-128174800	Enhancers	Spleen	Spleen
3	chr2:128172800-128176800	Weak transcription	NHDF-Ad	bronchial
4	chr2:128173000-128174200	Enhancers	Sigmoid Colon	Sigmoid Colon
5	chr2:128173000-128174200	Enhancers	Small Intestine	intestine
6	chr2:128173000-128174800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
7	chr2:128173200-128174200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
8	chr2:128173200-128174200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
9	chr2:128173200-128174200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
10	chr2:128173200-128174200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr2:128173200-128174200	Flanking Active TSS	Adipose Nuclei	Adipose
12	chr2:128173200-128174200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
13	chr2:128173200-128174200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
14	chr2:128173200-128174200	Flanking Active TSS	HMEC	breast
15	chr2:128173200-128174200	Flanking Active TSS	NHEK	skin
16	chr2:128173200-128174400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
17	chr2:128173200-128174400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr2:128173200-128174400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr2:128173200-128174400	Flanking Active TSS	Duodenum Mucosa	Duodenum
20	chr2:128173200-128174600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
21	chr2:128173200-128174600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
22	chr2:128173200-128174600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr2:128173200-128174800	Flanking Active TSS	Liver	Liver
24	chr2:128173400-128174200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
25	chr2:128173400-128174200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
26	chr2:128173400-128174200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
27	chr2:128173400-128174200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
28	chr2:128173400-128174200	Flanking Active TSS	Primary B cells from peripheral blood	blood
29	chr2:128173400-128174200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr2:128173400-128174200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
31	chr2:128173400-128174200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr2:128173400-128174200	Flanking Active TSS	Brain Angular Gyrus	brain
33	chr2:128173400-128174200	Flanking Active TSS	Brain Substantia Nigra	brain
34	chr2:128173400-128174200	Bivalent/Poised TSS	Fetal Brain Female	brain
35	chr2:128173400-128174200	Flanking Active TSS	Fetal Intestine Large	intestine
36	chr2:128173400-128174200	Flanking Active TSS	Fetal Intestine Small	intestine
37	chr2:128173400-128174200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
38	chr2:128173400-128174200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
39	chr2:128173400-128174200	Flanking Active TSS	Fetal Thymus	thymus
40	chr2:128173400-128174200	Flanking Active TSS	Pancreas	Pancrea
41	chr2:128173400-128174200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
42	chr2:128173400-128174200	Flanking Active TSS	Right Ventricle	heart
43	chr2:128173400-128174200	Flanking Active TSS	GM12878-XiMat	blood
44	chr2:128173400-128174200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
45	chr2:128173400-128174400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr2:128173400-128174400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
47	chr2:128173400-128174400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
48	chr2:128173400-128174400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
49	chr2:128173400-128174600	Flanking Active TSS	Primary B cells from cord blood	blood
50	chr2:128173400-128174600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood

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