Variant report

Variant	rs6814274
Chromosome Location	chr4:9692502-9692503
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	POLR2A	chr4:9692444-9693955	H1-hESC	embryonic stem cell:	n/a	n/a
2	SP1	chr4:9692106-9693756	HepG2	liver:	n/a	chr4:9693094-9693108 chr4:9693126-9693136 chr4:9693504-9693516 chr4:9693598-9693612 chr4:9693586-9693598 chr4:9693095-9693104 chr4:9693152-9693161 chr4:9693597-9693609 chr4:9693094-9693103 chr4:9693586-9693598 chr4:9693251-9693262 chr4:9693403-9693417 chr4:9693505-9693514 chr4:9693151-9693163 chr4:9693163-9693175 chr4:9693307-9693318 chr4:9693164-9693173 chr4:9693587-9693596 chr4:9693588-9693597 chr4:9693402-9693414 chr4:9693504-9693516 chr4:9693598-9693607 chr4:9693093-9693105 chr4:9693126-9693135 chr4:9693587-9693596 chr4:9693093-9693105 chr4:9693151-9693163 chr4:9693599-9693608 chr4:9693597-9693609
3	POLR2A	chr4:9692428-9693681	K562	blood:	n/a	n/a
4	HEY1	chr4:9692165-9693617	HepG2	liver:	n/a	chr4:9693587-9693602
5	FOXA1	chr4:9692190-9692603	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
FAM86MP	TF binding region

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10022012	0.92[EUR][1000 genomes]
rs12649073	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13103452	0.85[EUR][1000 genomes]
rs28390358	0.87[EUR][1000 genomes]
rs6821253	0.84[EUR][1000 genomes]
rs6842656	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1796218	chr4:9324644-9714338	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
2	nsv428108	chr4:9324644-9764173	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
3	nsv533218	chr4:9371016-10252290	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	74 gene(s)	inside rSNPs	diseases
4	nsv818213	chr4:9371116-9719981	Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
5	esv2754610	chr4:9372303-9804524	Enhancers Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
6	nsv530090	chr4:9383695-10165033	Enhancers Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	70 gene(s)	inside rSNPs	diseases
7	nsv1012865	chr4:9429299-9794181	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
8	nsv1001143	chr4:9435322-9794181	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
9	nsv1011425	chr4:9436994-9715105	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
10	nsv1002981	chr4:9446035-9698645	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
11	nsv1007204	chr4:9456977-9707068	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
12	nsv1006867	chr4:9456977-9713612	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
13	nsv1002757	chr4:9456977-9715105	Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
14	nsv1012621	chr4:9456977-9802366	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
15	nsv1012965	chr4:9461218-9696765	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
16	nsv1012634	chr4:9461218-9802366	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
17	nsv998043	chr4:9496282-9830208	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
18	esv10795	chr4:9508396-9745703	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
19	nsv878667	chr4:9543673-9903121	ZNF genes & repeats Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
20	nsv878669	chr4:9551094-9794724	Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
21	nsv469511	chr4:9609987-9754029	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
22	nsv482424	chr4:9609987-9754029	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
23	nsv964031	chr4:9629449-9764955	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
24	nsv1000853	chr4:9632436-9696765	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
25	nsv999102	chr4:9633247-9794181	Enhancers Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:9673200-9692600	Weak transcription	Fetal Muscle Leg	muscle
2	chr4:9687600-9692800	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr4:9689800-9692600	Weak transcription	Fetal Heart	heart
4	chr4:9690000-9692600	Enhancers	Fetal Intestine Large	intestine
5	chr4:9690000-9692600	Enhancers	Fetal Intestine Small	intestine
6	chr4:9691800-9692600	Enhancers	Fetal Thymus	thymus
7	chr4:9691800-9692600	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr4:9692000-9692600	Enhancers	Liver	Liver
9	chr4:9692000-9693800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
10	chr4:9692200-9692600	Enhancers	Brain Cingulate Gyrus	brain
11	chr4:9692200-9692600	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr4:9692400-9692600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr4:9692400-9692600	Enhancers	Primary B cells from cord blood	blood
14	chr4:9692400-9692600	Enhancers	Primary B cells from peripheral blood	blood
15	chr4:9692400-9692600	Enhancers	Primary hematopoietic stem cells	blood
16	chr4:9692400-9692600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr4:9692400-9692600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr4:9692400-9692600	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr4:9692400-9692600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr4:9692400-9692600	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr4:9692400-9692600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
22	chr4:9692400-9692600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr4:9692400-9692600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr4:9692400-9692600	Enhancers	Adipose Nuclei	Adipose
25	chr4:9692400-9692600	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr4:9692400-9692600	Active TSS	Colonic Mucosa	Colon
27	chr4:9692400-9692600	Active TSS	Duodenum Mucosa	Duodenum
28	chr4:9692400-9692600	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr4:9692400-9692600	Enhancers	Fetal Muscle Trunk	muscle
30	chr4:9692400-9692600	Active TSS	Rectal Mucosa Donor 29	rectum
31	chr4:9692400-9692600	Enhancers	Thymus	Thymus
32	chr4:9692400-9692600	Enhancers	HMEC	breast
33	chr4:9692400-9692600	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr4:9692400-9692600	Enhancers	NHEK	skin
35	chr4:9692400-9692800	Enhancers	Primary T killer memory cells from peripheral blood	blood
36	chr4:9692400-9693000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr4:9692400-9693000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr4:9692400-9693000	Flanking Active TSS	Stomach Smooth Muscle	stomach
39	chr4:9692400-9693200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr4:9692400-9693400	Active TSS	iPS-15b Cell Line	embryonic stem cell
41	chr4:9692400-9693400	Active TSS	Breast Myoepithelial Primary Cells	Breast
42	chr4:9692400-9693800	Active TSS	HUES64 Cell Line	embryonic stem cell
43	chr4:9692400-9693800	Active TSS	Brain Anterior Caudate	brain
44	chr4:9692400-9693800	Active TSS	Fetal Brain Female	brain
45	chr4:9692400-9693800	Active TSS	Fetal Kidney	kidney
46	chr4:9692400-9693800	Active TSS	Rectal Smooth Muscle	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links