Variant report

Variant	rs4253294
Chromosome Location	chr4:187169650-187169651
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	BACH1	chr4:187169575-187170178	H1-hESC	embryonic stem cell:	n/a	n/a
2	HDAC2	chr4:187169403-187169684	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr4:187169433-187169710	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr4:187169390-187169655	H1-hESC	embryonic stem cell:	n/a	n/a
5	MAFK	chr4:187169555-187170179	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr4:187169367-187170182	H1-hESC	embryonic stem cell:	n/a	n/a
7	TBP	chr4:187169448-187170130	H1-hESC	embryonic stem cell:	n/a	n/a
8	CHD2	chr4:187169506-187170427	H1-hESC	embryonic stem cell:	n/a	n/a
9	TAF7	chr4:187169364-187170200	H1-hESC	embryonic stem cell:	n/a	n/a
10	CHD1	chr4:187165142-187170727	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
KLKB1	TF binding region

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs34899763	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4253273	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4253283	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4253313	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4253332	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4861709	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs925453	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028146	chr4:186503899-187338335	Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv530178	chr4:186659940-187478310	Bivalent Enhancer Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv931977	chr4:186912987-187364756	Active TSS Strong transcription Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv869299	chr4:186958290-187192748	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv1033203	chr4:186990348-187333476	Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	nsv537431	chr4:186990348-187333476	Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	nsv461864	chr4:187006806-187257004	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
8	nsv596392	chr4:187006806-187257004	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
9	nsv461865	chr4:187072383-187366649	Flanking Active TSS Genic enhancers Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
10	nsv596401	chr4:187072383-187366649	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
11	nsv1022059	chr4:187082701-187183953	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
12	nsv881472	chr4:187152142-187187005	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:187131800-187181600	Weak transcription	Brain Hippocampus Middle	brain
2	chr4:187146400-187172800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr4:187148000-187173000	Weak transcription	Psoas Muscle	Psoas
4	chr4:187148200-187179200	Weak transcription	Lung	lung
5	chr4:187148400-187172600	Weak transcription	Brain Anterior Caudate	brain
6	chr4:187148400-187179400	Weak transcription	Pancreas	Pancrea
7	chr4:187149800-187181600	Weak transcription	Duodenum Mucosa	Duodenum
8	chr4:187149800-187186800	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr4:187150200-187187200	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr4:187151000-187187200	Weak transcription	Colon Smooth Muscle	Colon
11	chr4:187151800-187173000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr4:187152000-187179400	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr4:187152200-187169800	Weak transcription	Brain Substantia Nigra	brain
14	chr4:187154000-187182000	Weak transcription	Primary T cells from cord blood	blood
15	chr4:187156800-187179200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr4:187158000-187173000	Weak transcription	Left Ventricle	heart
17	chr4:187158400-187181400	Weak transcription	Fetal Intestine Large	intestine
18	chr4:187159800-187172600	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr4:187164800-187169800	Weak transcription	Right Ventricle	heart
20	chr4:187165600-187170200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr4:187166400-187169800	Weak transcription	Liver	Liver
22	chr4:187166800-187169800	Active TSS	H1 Cell Line	embryonic stem cell
23	chr4:187168400-187170200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr4:187168400-187170400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr4:187168600-187170400	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr4:187168600-187173000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr4:187168600-187173000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr4:187169200-187173600	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr4:187169400-187172400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
30	chr4:187169600-187170000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
31	chr4:187169600-187170000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr4:187169600-187170200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
33	chr4:187169600-187170400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
34	chr4:187169600-187171200	Weak transcription	Fetal Stomach	stomach
35	chr4:187169600-187171400	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr4:187169600-187172000	Enhancers	iPS-15b Cell Line	embryonic stem cell

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