Variant report

Variant	rs943698
Chromosome Location	chr1:63156789-63156790
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	ARID3A	chr1:63155138-63157154	HepG2	liver:	n/a	n/a
2	HNF4G	chr1:63156664-63157298	HepG2	liver:	n/a	chr1:63156943-63156958 chr1:63156941-63156956 chr1:63156943-63156958 chr1:63156943-63156958
3	CHD2	chr1:63156073-63156943	HepG2	liver:	n/a	n/a
4	HNF4G	chr1:63156544-63157198	HepG2	liver:	n/a	chr1:63156943-63156958 chr1:63156941-63156956 chr1:63156943-63156958 chr1:63156943-63156958
5	POLR2A	chr1:63155955-63156910	HepG2	liver:	n/a	n/a
6	SP1	chr1:63156676-63157102	HepG2	liver:	n/a	chr1:63156903-63156913 chr1:63156903-63156913
7	TEAD4	chr1:63155846-63157408	HepG2	liver:	n/a	n/a
8	NFIC	chr1:63156596-63157186	HepG2	liver:	n/a	n/a
9	E2F4	chr1:63156640-63156840	MCF10A-Er-Src	breast:	n/a	n/a
10	HEY1	chr1:63155913-63157036	HepG2	liver:	n/a	n/a
11	MXI1	chr1:63154947-63156984	IMR90	lung:	n/a	n/a
12	POLR2A	chr1:63156695-63156874	HepG2	liver:	n/a	n/a
13	HNF4A	chr1:63156699-63157285	HepG2	liver:	n/a	chr1:63156943-63156958 chr1:63156943-63156958 chr1:63156943-63156958 chr1:63156942-63156957
14	HEY1	chr1:63155848-63157133	HepG2	liver:	n/a	n/a
15	MYBL2	chr1:63156569-63157395	HepG2	liver:	n/a	n/a
16	BHLHE40	chr1:63156016-63157064	HepG2	liver:	n/a	n/a
17	POLR2A	chr1:63155944-63157080	HepG2	liver:	n/a	n/a
18	TBP	chr1:63156689-63156995	HepG2	liver:	n/a	n/a
19	MXI1	chr1:63155138-63157330	HepG2	liver:	n/a	n/a
20	EP300	chr1:63156650-63157123	HepG2	liver:	n/a	n/a
21	RCOR1	chr1:63154903-63156874	IMR90	lung:	n/a	n/a
22	HNF4A	chr1:63156713-63157032	HepG2	liver:	n/a	chr1:63156943-63156958 chr1:63156943-63156958 chr1:63156943-63156958 chr1:63156942-63156957
23	STAT3	chr1:63156781-63156831	MCF10A-Er-Src	breast:	n/a	n/a
24	POLR2A	chr1:63155146-63157121	HepG2	liver:	n/a	n/a
25	POLR2A	chr1:63155125-63157751	HepG2	liver:	n/a	n/a
26	MBD4	chr1:63155878-63156804	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:63156083..63158075-chr1:63158423..63161249,2	K562	blood:
2	chr1:63156575..63159018-chr1:63159130..63161249,2	K562	blood:

Variant related genes	Relation type
DOCK7	TF binding region

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11208005	0.97[AFR][1000 genomes]
rs1168115	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1168122	0.83[AMR][1000 genomes]
rs4915849	0.96[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014376	chr1:62976472-63181359	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:63154600-63157000	Enhancers	Fetal Heart	heart
2	chr1:63154800-63156800	Enhancers	Colonic Mucosa	Colon
3	chr1:63154800-63156800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr1:63154800-63156800	Enhancers	Fetal Muscle Leg	muscle
5	chr1:63154800-63157000	Enhancers	HSMMtube	muscle
6	chr1:63154800-63157000	Enhancers	K562	blood
7	chr1:63154800-63157200	Enhancers	Brain Cingulate Gyrus	brain
8	chr1:63154800-63157400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:63154800-63157400	Enhancers	Brain Hippocampus Middle	brain
10	chr1:63154800-63157600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr1:63154800-63157800	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr1:63154800-63157800	Enhancers	Liver	Liver
13	chr1:63154800-63157800	Enhancers	Colon Smooth Muscle	Colon
14	chr1:63154800-63158400	Enhancers	Fetal Intestine Large	intestine
15	chr1:63155000-63157000	Enhancers	Brain Angular Gyrus	brain
16	chr1:63155000-63157000	Enhancers	Brain Substantia Nigra	brain
17	chr1:63155200-63156800	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr1:63155200-63157000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr1:63155400-63156800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr1:63155400-63156800	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr1:63155400-63156800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr1:63155400-63156800	Enhancers	Small Intestine	intestine
23	chr1:63155600-63156800	Flanking Active TSS	Brain Germinal Matrix	brain
24	chr1:63155600-63157400	Enhancers	Fetal Stomach	stomach
25	chr1:63155600-63157600	Flanking Active TSS	Duodenum Mucosa	Duodenum
26	chr1:63155600-63157800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr1:63155600-63157800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr1:63155600-63157800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr1:63155800-63157000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr1:63155800-63157000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr1:63155800-63157200	Enhancers	Stomach Smooth Muscle	stomach
32	chr1:63155800-63157400	Enhancers	Duodenum Smooth Muscle	Duodenum
33	chr1:63155800-63157600	Enhancers	HMEC	breast
34	chr1:63155800-63158400	Enhancers	Stomach Mucosa	stomach
35	chr1:63155800-63165000	Weak transcription	Primary T cells from cord blood	blood
36	chr1:63156000-63156800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr1:63156000-63156800	Enhancers	Left Ventricle	heart
38	chr1:63156000-63156800	Enhancers	Lung	lung
39	chr1:63156000-63156800	Enhancers	Dnd41	blood
40	chr1:63156000-63157400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr1:63156200-63156800	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr1:63156200-63156800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr1:63156200-63156800	Enhancers	Fetal Kidney	kidney
44	chr1:63156200-63156800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
45	chr1:63156200-63157000	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr1:63156200-63157000	Enhancers	HUVEC	blood vessel
47	chr1:63156200-63157200	Enhancers	Fetal Lung	lung
48	chr1:63156200-63158200	Flanking Active TSS	HepG2	liver
49	chr1:63156400-63156800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr1:63156400-63156800	Enhancers	Primary T helper cells PMA-I stimulated	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links