Variant report

Variant	rs10440167
Chromosome Location	chr4:7105702-7105703
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	chr4:7104890-7105893	HepG2	liver:	n/a	n/a
2	HNF4A	chr4:7105260-7105783	HepG2	liver:	n/a	chr4:7105550-7105565 chr4:7105550-7105564 chr4:7105548-7105566 chr4:7105551-7105563 chr4:7105551-7105564 chr4:7105549-7105564 chr4:7105550-7105565 chr4:7105551-7105563 chr4:7105550-7105563
3	MXI1	chr4:7104730-7105796	HepG2	liver:	n/a	n/a
4	MYBL2	chr4:7105233-7105892	HepG2	liver:	n/a	n/a
5	TAF1	chr4:7104917-7106010	HepG2	liver:	n/a	n/a
6	NFIC	chr4:7105202-7105821	HepG2	liver:	n/a	n/a
7	POLR2A	chr4:7104863-7105882	HepG2	liver:	n/a	n/a
8	RCOR1	chr4:7105253-7105989	HepG2	liver:	n/a	n/a
9	SP1	chr4:7104907-7105845	HepG2	liver:	n/a	chr4:7105138-7105148 chr4:7105590-7105602 chr4:7105138-7105147 chr4:7105137-7105149 chr4:7105139-7105148 chr4:7105591-7105600 chr4:7105138-7105148 chr4:7105115-7105129 chr4:7105137-7105149
10	HDAC2	chr4:7105170-7105790	HepG2	liver:	n/a	chr4:7105491-7105510
11	REST	chr4:7105316-7105731	HepG2	liver:	n/a	chr4:7105494-7105503
12	POLR2A	chr4:7104839-7106126	HepG2	liver:	n/a	n/a
13	HNF4A	chr4:7105110-7105862	HepG2	liver:	n/a	chr4:7105550-7105565 chr4:7105550-7105564 chr4:7105548-7105566 chr4:7105551-7105563 chr4:7105551-7105564 chr4:7105549-7105564 chr4:7105550-7105565 chr4:7105551-7105563 chr4:7105550-7105563
14	POLR2A	chr4:7104928-7105858	HepG2	liver:	n/a	n/a
15	ZNF263	chr4:7104709-7105967	HEK293-T-REx	kidney:	n/a	n/a
16	NFIC	chr4:7104815-7105779	ECC-1	luminal epithelium:	n/a	n/a
17	MBD4	chr4:7105422-7105751	HepG2	liver:	n/a	n/a
18	TBP	chr4:7104910-7105822	HepG2	liver:	n/a	n/a
19	HEY1	chr4:7104791-7105866	HepG2	liver:	n/a	n/a
20	JUND	chr4:7105373-7105772	HepG2	liver:	n/a	n/a
21	MYC	chr4:7105519-7105719	K562	blood:	n/a	n/a
22	MAZ	chr4:7104983-7105803	HepG2	liver:	n/a	chr4:7105138-7105148
23	NFIC	chr4:7105110-7105873	ECC-1	luminal epithelium:	n/a	n/a
24	MAX	chr4:7105214-7105786	HepG2	liver:	n/a	n/a
25	JUND	chr4:7105359-7105708	HepG2	liver:	n/a	n/a
26	MXI1	chr4:7104445-7105867	SK-N-SH	brain:	n/a	n/a
27	HNF4A	chr4:7105313-7105765	HepG2	liver:	n/a	chr4:7105550-7105565 chr4:7105550-7105564 chr4:7105548-7105566 chr4:7105551-7105563 chr4:7105551-7105564 chr4:7105549-7105564 chr4:7105550-7105565 chr4:7105551-7105563 chr4:7105550-7105563
28	HEY1	chr4:7104883-7105895	HepG2	liver:	n/a	n/a
29	HNF4G	chr4:7105218-7105778	HepG2	liver:	n/a	chr4:7105550-7105565 chr4:7105550-7105564 chr4:7105548-7105566 chr4:7105551-7105563 chr4:7105551-7105564 chr4:7105550-7105565 chr4:7105551-7105563 chr4:7105550-7105563
30	RAD21	chr4:7105497-7105746	HepG2	liver:	n/a	n/a
31	YY1	chr4:7104749-7105926	HepG2	liver:	n/a	chr4:7105786-7105800
32	MAX	chr4:7105194-7105724	ECC-1	luminal epithelium:	n/a	n/a
33	POLR2A	chr4:7105208-7105806	HepG2	liver:	n/a	n/a
34	MYBL2	chr4:7105186-7105978	HepG2	liver:	n/a	n/a
35	HNF4G	chr4:7105203-7105778	HepG2	liver:	n/a	chr4:7105550-7105565 chr4:7105550-7105564 chr4:7105548-7105566 chr4:7105551-7105563 chr4:7105551-7105564 chr4:7105550-7105565 chr4:7105551-7105563 chr4:7105550-7105563
36	POLR2A	chr4:7103692-7106337	HepG2	liver:	n/a	n/a
37	POLR2A	chr4:7105191-7105849	HepG2	liver:	n/a	n/a
38	BHLHE40	chr4:7105183-7105776	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:7105423..7108283-chr4:7118442..7120103,2	MCF-7	breast:
2	chr4:7103913..7106622-chr4:7111535..7115141,3	K562	blood:
3	chr4:7105147..7106911-chr4:7141540..7143652,2	K562	blood:
4	chr4:7077408..7080531-chr4:7105216..7108085,3	K562	blood:
5	chr4:6783899..6786313-chr4:7103315..7105730,2	K562	blood:

Variant related genes	Relation type
ENSG00000245468	TF binding region
ENSG00000200867	Chromatin interaction
ENSG00000170871	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10516183	0.82[EUR][1000 genomes]
rs11930240	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11935906	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11939020	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11939101	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12642809	0.83[EUR][1000 genomes]
rs12643437	0.80[EUR][1000 genomes]
rs35322113	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4082843	0.80[EUR][1000 genomes]
rs57515712	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60841350	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73202188	0.83[EUR][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	esv34033	chr4:6973270-7390621	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	esv2757919	chr4:6988148-7269901	Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	esv2759221	chr4:6988148-7269901	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv428436	chr4:6988148-7269901	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv469847	chr4:7003525-7168441	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	nsv878531	chr4:7006541-7129556	Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv878534	chr4:7084985-7121880	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv878535	chr4:7093834-7135912	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	nsv461191	chr4:7102597-7129001	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv878536	chr4:7102597-7142868	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers 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	11 gene(s)	inside rSNPs	diseases
11	nsv878537	chr4:7102597-7153642	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
12	nsv878538	chr4:7102597-7158467	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7103600-7105800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
2	chr4:7103600-7105800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
3	chr4:7103600-7106200	Flanking Active TSS	Duodenum Mucosa	Duodenum
4	chr4:7103800-7105800	Flanking Active TSS	Adipose Nuclei	Adipose
5	chr4:7103800-7105800	Flanking Active TSS	Liver	Liver
6	chr4:7104200-7105800	Active TSS	Right Atrium	heart
7	chr4:7104400-7105800	Enhancers	Fetal Brain Male	brain
8	chr4:7104400-7106200	Flanking Active TSS	Stomach Smooth Muscle	stomach
9	chr4:7104600-7105800	Flanking Active TSS	Fetal Muscle Leg	muscle
10	chr4:7104800-7105800	Active TSS	Brain Anterior Caudate	brain
11	chr4:7104800-7105800	Active TSS	HSMMtube	muscle
12	chr4:7105000-7106000	Enhancers	Placenta Amnion	Placenta Amnion
13	chr4:7105200-7105800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
14	chr4:7105200-7105800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr4:7105200-7105800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr4:7105200-7105800	Enhancers	Lung	lung
17	chr4:7105200-7105800	Flanking Active TSS	Hela-S3	cervix
18	chr4:7105200-7106000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr4:7105200-7106000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
20	chr4:7105200-7106000	Flanking Active TSS	Fetal Intestine Small	intestine
21	chr4:7105200-7106000	Bivalent Enhancer	Fetal Thymus	thymus
22	chr4:7105200-7106000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
23	chr4:7105200-7106000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
24	chr4:7105200-7106000	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr4:7105200-7106800	Enhancers	Spleen	Spleen
26	chr4:7105400-7105800	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
27	chr4:7105400-7106000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr4:7105400-7106000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr4:7105400-7106000	Flanking Active TSS	Brain Substantia Nigra	brain
30	chr4:7105400-7106000	Flanking Active TSS	Colonic Mucosa	Colon
31	chr4:7105400-7106000	Flanking Active TSS	Fetal Intestine Large	intestine
32	chr4:7105400-7106200	Flanking Active TSS	Brain Cingulate Gyrus	brain
33	chr4:7105400-7106400	Flanking Active TSS	HepG2	liver
34	chr4:7105600-7105800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr4:7105600-7105800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
36	chr4:7105600-7105800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr4:7105600-7105800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr4:7105600-7105800	Enhancers	Primary B cells from peripheral blood	blood
39	chr4:7105600-7105800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
40	chr4:7105600-7105800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr4:7105600-7105800	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr4:7105600-7105800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr4:7105600-7105800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr4:7105600-7105800	Active TSS	Brain Angular Gyrus	brain
45	chr4:7105600-7105800	Active TSS	Brain Hippocampus Middle	brain
46	chr4:7105600-7105800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
47	chr4:7105600-7105800	Enhancers	Fetal Brain Female	brain
48	chr4:7105600-7105800	Enhancers	Left Ventricle	heart
49	chr4:7105600-7105800	Active TSS	Right Ventricle	heart
50	chr4:7105600-7105800	Flanking Active TSS	A549	lung

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