Variant report

Variant	rs1771319
Chromosome Location	chr1:225697016-225697017
allele	A/C
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	SPI1	chr1:225696795-225697062	K562	blood:	n/a	chr1:225696972-225696985 chr1:225696936-225696949
2	KAP1	chr1:225696195-225697284	HEK293	kidney:	n/a	n/a
3	CBX3	chr1:225696104-225697230	HCT-116	colon:	n/a	n/a
4	CTCF	chr1:225696940-225697090	HBMEC	blood vessel:	n/a	n/a
5	SP1	chr1:225696012-225698053	HCT-116	colon:	n/a	n/a
6	SPI1	chr1:225696829-225697076	K562	blood:	n/a	chr1:225696972-225696985 chr1:225696936-225696949
7	SP1	chr1:225695995-225697136	HCT-116	colon:	n/a	n/a
8	JUN	chr1:225696045-225697082	K562	blood:	n/a	chr1:225696413-225696423 chr1:225696361-225696371 chr1:225696761-225696770 chr1:225696412-225696424 chr1:225696361-225696371 chr1:225696414-225696422 chr1:225696361-225696371 chr1:225696413-225696423
9	KAP1	chr1:225696160-225697158	U2OS	brain:	n/a	n/a
10	POLR2A	chr1:225696948-225697027	ProgFib	skin:	n/a	n/a
11	SPI1	chr1:225696706-225697041	HL-60	blood:	n/a	chr1:225696972-225696985 chr1:225696936-225696949
12	SP1	chr1:225695997-225697091	A549	lung:	n/a	n/a
13	ZNF143	chr1:225696883-225697065	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
ENAH	TF binding region

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs1222435	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832714	chr1:225592333-225805396	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv2756886	chr1:225665694-225703485	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
3	esv2759003	chr1:225665694-225703485	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv4720	chr1:225673218-225718009	Genic enhancers Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225677200-225703600	Weak transcription	Fetal Brain Female	brain
2	chr1:225681800-225699800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr1:225686800-225699800	Weak transcription	Adipose Nuclei	Adipose
4	chr1:225687000-225705000	Weak transcription	Spleen	Spleen
5	chr1:225687400-225704400	Weak transcription	Fetal Stomach	stomach
6	chr1:225688600-225704600	Weak transcription	Placenta	Placenta
7	chr1:225688800-225711400	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr1:225689200-225721000	Weak transcription	Duodenum Mucosa	Duodenum
9	chr1:225691000-225706200	Weak transcription	Primary B cells from cord blood	blood
10	chr1:225691200-225705000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr1:225692600-225704800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr1:225693200-225702800	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr1:225694800-225698000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr1:225695000-225699200	Weak transcription	Liver	Liver
15	chr1:225695200-225697800	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr1:225695400-225697800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:225695400-225704800	Weak transcription	Fetal Brain Male	brain
18	chr1:225695600-225721200	Weak transcription	Fetal Kidney	kidney
19	chr1:225695800-225697800	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:225695800-225697800	Genic enhancers	HSMM	muscle
21	chr1:225695800-225697800	Enhancers	NHDF-Ad	bronchial
22	chr1:225695800-225697800	Enhancers	NHLF	lung
23	chr1:225695800-225697800	Genic enhancers	Osteobl	bone
24	chr1:225695800-225698000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr1:225695800-225698200	Enhancers	HUVEC	blood vessel
26	chr1:225696000-225697400	Enhancers	Rectal Smooth Muscle	rectum
27	chr1:225696000-225697800	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr1:225696000-225697800	Genic enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr1:225696000-225698000	Enhancers	Hela-S3	cervix
30	chr1:225696000-225698200	Enhancers	HMEC	breast
31	chr1:225696000-225698400	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr1:225696200-225697200	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:225696200-225697200	Enhancers	Fetal Heart	heart
34	chr1:225696200-225697600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr1:225696200-225697800	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr1:225696200-225697800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr1:225696200-225698000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr1:225696400-225697200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr1:225696400-225697200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr1:225696400-225697200	Genic enhancers	Fetal Muscle Leg	muscle
41	chr1:225696400-225697200	Flanking Active TSS	A549	lung
42	chr1:225696400-225697400	Genic enhancers	Cortex derived primary cultured neurospheres	brain
43	chr1:225696400-225697400	Enhancers	Colon Smooth Muscle	Colon
44	chr1:225696400-225697400	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr1:225696400-225697600	Enhancers	Brain Angular Gyrus	brain
46	chr1:225696400-225697800	Genic enhancers	H1 Cell Line	embryonic stem cell
47	chr1:225696400-225697800	Enhancers	H9 Cell Line	embryonic stem cell
48	chr1:225696400-225697800	Genic enhancers	Muscle Satellite Cultured Cells	--
49	chr1:225696400-225697800	Enhancers	Brain Hippocampus Middle	brain
50	chr1:225696400-225697800	Enhancers	Brain Inferior Temporal Lobe	brain

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