Variant report

Variant	rs571497691
Chromosome Location	chr5:127875107-127875108
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	CTCF	chr5:127875060-127875210	HVMF	connective:	n/a	n/a
2	POLR2A	chr5:127874658-127875212	ProgFib	skin:	n/a	n/a
3	MAZ	chr5:127872770-127875254	IMR90	lung:	n/a	chr5:127874030-127874039
4	POLR2A	chr5:127874104-127875124	H1-hESC	embryonic stem cell:	n/a	n/a
5	TBP	chr5:127873148-127875197	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr5:127873632-127875183	H1-hESC	embryonic stem cell:	n/a	n/a
7	MAX	chr5:127872912-127875135	NB4	blood:	n/a	chr5:127874030-127874039
8	CTCF	chr5:127874960-127875110	HVMF	connective:	n/a	n/a
9	POLR2A	chr5:127872030-127875377	H1-hESC	embryonic stem cell:	n/a	n/a
10	RCOR1	chr5:127871794-127875413	IMR90	lung:	n/a	n/a
11	RAD21	chr5:127874146-127875272	H1-hESC	embryonic stem cell:	n/a	n/a
12	MYC	chr5:127873079-127875173	NB4	blood:	n/a	chr5:127874030-127874039
13	KAP1	chr5:127874312-127875334	HEK293	kidney:	n/a	n/a
14	MAX	chr5:127872867-127875155	A549	lung:	n/a	chr5:127874030-127874039
15	E2F4	chr5:127874896-127875185	MCF10A-Er-Src	breast:	n/a	chr5:127874919-127874929
16	MXI1	chr5:127871987-127875368	IMR90	lung:	n/a	n/a
17	CTCF	chr5:127875020-127875170	HMEC	breast:	n/a	n/a
18	POLR2A	chr5:127872958-127875128	MCF10A-Er-Src	breast:	n/a	n/a
19	MAX	chr5:127874330-127875199	H1-hESC	embryonic stem cell:	n/a	n/a
20	CTCF	chr5:127875040-127875190	HMF	breast:	n/a	n/a
21	MAX	chr5:127872796-127875284	A549	lung:	n/a	chr5:127874030-127874039
22	SIN3A	chr5:127871997-127875223	H1-hESC	embryonic stem cell:	n/a	chr5:127872272-127872286 chr5:127874925-127874938
23	POLR2A	chr5:127873185-127875262	MCF10A-Er-Src	breast:	n/a	n/a
24	TAF1	chr5:127874828-127875158	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:127871072..127873305-chr5:127875022..127876615,2	K562	blood:

Variant related genes	Relation type
FBN2	TF binding region

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	nsv531991	chr5:127624564-127966085	Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	esv2763497	chr5:127745955-127882468	Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
3	nsv530822	chr5:127777365-127900742	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv427734	chr5:127805281-128088632	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv3426737	chr5:127874753-127876851	Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127870800-127875200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
2	chr5:127871000-127875400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
3	chr5:127871200-127875400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr5:127871800-127875200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:127871800-127875200	Bivalent/Poised TSS	Fetal Intestine Large	intestine
6	chr5:127871800-127875200	Active TSS	Left Ventricle	heart
7	chr5:127871800-127875200	Active TSS	Right Ventricle	heart
8	chr5:127871800-127875400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
9	chr5:127872000-127875200	Bivalent/Poised TSS	Fetal Stomach	stomach
10	chr5:127872000-127875400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr5:127872200-127875200	Active TSS	Right Atrium	heart
12	chr5:127872200-127875400	Active TSS	Muscle Satellite Cultured Cells	--
13	chr5:127872200-127875400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr5:127872400-127875400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr5:127872400-127875400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
16	chr5:127872600-127875200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr5:127872600-127875200	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
18	chr5:127872600-127875200	Active TSS	Placenta Amnion	Placenta Amnion
19	chr5:127872600-127875400	Active TSS	Fetal Kidney	kidney
20	chr5:127872800-127875200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr5:127872800-127875200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr5:127872800-127875200	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
23	chr5:127872800-127875200	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
24	chr5:127872800-127875200	Active TSS	NHLF	lung
25	chr5:127872800-127875400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr5:127873000-127875200	Active TSS	H9 Cell Line	embryonic stem cell
27	chr5:127873000-127875200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr5:127873200-127875200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr5:127873200-127875200	Active TSS	Brain Substantia Nigra	brain
30	chr5:127873200-127875400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr5:127873400-127875400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr5:127874000-127875200	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
33	chr5:127874000-127875400	Active TSS	iPS-18 Cell Line	embryonic stem cell
34	chr5:127874200-127875200	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
35	chr5:127874200-127875200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
36	chr5:127874400-127875200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr5:127874400-127875200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
38	chr5:127874400-127875200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
39	chr5:127874400-127875200	Flanking Active TSS	HUVEC	blood vessel
40	chr5:127874400-127875200	Bivalent/Poised TSS	Osteobl	bone
41	chr5:127874400-127875400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
42	chr5:127874400-127875400	Flanking Active TSS	HMEC	breast
43	chr5:127874600-127875200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr5:127874600-127875200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
45	chr5:127874600-127875200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
46	chr5:127874600-127875200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr5:127874600-127875200	Active TSS	Gastric	stomach
48	chr5:127874600-127875200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
49	chr5:127874600-127875400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
50	chr5:127874600-127875400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links