Variant report

Variant	rs7677323
Chromosome Location	chr4:88297031-88297032
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	POLR2A	chr4:88296915-88297290	K562	blood:	n/a	n/a
2	CTCF	chr4:88296805-88297224	HepG2	liver:	n/a	chr4:88297028-88297049 chr4:88297026-88297044
3	CTCF	chr4:88296940-88297090	GM06990	blood:	n/a	chr4:88297028-88297049 chr4:88297026-88297044
4	CTCF	chr4:88297020-88297170	GM12871	blood:	n/a	chr4:88297028-88297049 chr4:88297026-88297044
5	RAD21	chr4:88296818-88297288	HCT-116	colon:	n/a	chr4:88297027-88297046
6	CTCF	chr4:88296960-88297110	HUVEC	blood vessel:	n/a	chr4:88297028-88297049 chr4:88297026-88297044
7	CTCF	chr4:88296845-88297267	K562	blood:	n/a	chr4:88297028-88297049 chr4:88297026-88297044
8	CTCF	chr4:88296940-88297090	GM12878	blood:	n/a	chr4:88297028-88297049 chr4:88297026-88297044
9	NFIC	chr4:88296804-88297373	SK-N-SH	brain:	n/a	n/a
10	CTCF	chr4:88297000-88297150	A549	lung:	n/a	chr4:88297028-88297049 chr4:88297026-88297044
11	CTCF	chr4:88297000-88297150	HCM	heart:	n/a	chr4:88297028-88297049 chr4:88297026-88297044
12	CTCF	chr4:88296681-88297413	SK-N-SH	brain:	n/a	chr4:88297028-88297049 chr4:88297026-88297044
13	CTCF	chr4:88296896-88297133	ECC-1	luminal epithelium:	n/a	chr4:88297028-88297049 chr4:88297026-88297044
14	RAD21	chr4:88296907-88297112	K562	blood:	n/a	chr4:88297027-88297046
15	CTCF	chr4:88296850-88297215	A549	lung:	n/a	chr4:88297028-88297049 chr4:88297026-88297044
16	CTCF	chr4:88296939-88297165	HepG2	liver:	n/a	chr4:88297028-88297049 chr4:88297026-88297044
17	CTCF	chr4:88297003-88297123	GM19239	blood:	n/a	chr4:88297028-88297049 chr4:88297026-88297044
18	CTCF	chr4:88296980-88297155	A549	lung:	n/a	chr4:88297028-88297049 chr4:88297026-88297044
19	CTCF	chr4:88296927-88297112	GM20000	blood:	n/a	chr4:88297028-88297049 chr4:88297026-88297044
20	CTCF	chr4:88297020-88297170	HEEpiC	esophagus:	n/a	chr4:88297028-88297049 chr4:88297026-88297044
21	CTCF	chr4:88296960-88297110	HVMF	connective:	n/a	chr4:88297028-88297049 chr4:88297026-88297044
22	ZNF143	chr4:88296861-88297219	GM12878	blood:	n/a	n/a
23	CTCF	chr4:88296981-88297141	GM12892	blood:	n/a	chr4:88297028-88297049 chr4:88297026-88297044
24	RAD21	chr4:88296845-88297266	IMR90	lung:	n/a	chr4:88297027-88297046
25	CTCF	chr4:88296980-88297130	GM06990	blood:	n/a	chr4:88297028-88297049 chr4:88297026-88297044
26	CTCF	chr4:88297000-88297150	HBMEC	blood vessel:	n/a	chr4:88297028-88297049 chr4:88297026-88297044
27	CTCF	chr4:88296980-88297130	HCT-116	colon:	n/a	chr4:88297028-88297049 chr4:88297026-88297044
28	CTCF	chr4:88296960-88297110	GM12875	blood:	n/a	chr4:88297028-88297049 chr4:88297026-88297044
29	HNF4G	chr4:88296870-88297272	HepG2	liver:	n/a	n/a
30	FOXA1	chr4:88296748-88297239	HepG2	liver:	n/a	chr4:88296993-88297005
31	CTCF	chr4:88296980-88297130	AG09309	skin:	n/a	chr4:88297028-88297049 chr4:88297026-88297044
32	CTCF	chr4:88296980-88297130	HPF	lung:	n/a	chr4:88297028-88297049 chr4:88297026-88297044
33	CTCF	chr4:88296920-88297070	RPTEC	kidney:	n/a	chr4:88297028-88297049 chr4:88297026-88297044
34	RAD21	chr4:88296890-88297287	MCF-7	breast:	n/a	chr4:88297027-88297046
35	JUN	chr4:88296950-88297187	HepG2	liver:	n/a	n/a
36	CTCF	chr4:88296871-88297209	SK-N-SH_RA	brain:	n/a	chr4:88297028-88297049 chr4:88297026-88297044
37	JUND	chr4:88296904-88297221	K562	blood:	n/a	n/a
38	CTCF	chr4:88296980-88297130	HEEpiC	esophagus:	n/a	chr4:88297028-88297049 chr4:88297026-88297044
39	CTCF	chr4:88296960-88297110	GM12872	blood:	n/a	chr4:88297028-88297049 chr4:88297026-88297044
40	CTCF	chr4:88297000-88297150	NHLF	lung:	n/a	chr4:88297028-88297049 chr4:88297026-88297044
41	CTCF	chr4:88297000-88297150	HRPEpiC	eye:	n/a	chr4:88297028-88297049 chr4:88297026-88297044
42	RAD21	chr4:88296862-88297257	GM12878	blood:	n/a	chr4:88297027-88297046
43	CTCF	chr4:88296980-88297130	SAEC	small airway:	n/a	chr4:88297028-88297049 chr4:88297026-88297044
44	CTCF	chr4:88296980-88297130	GM12864	blood:	n/a	chr4:88297028-88297049 chr4:88297026-88297044
45	CTCF	chr4:88296940-88297090	HA-sp	spinal cord:	n/a	chr4:88297028-88297049 chr4:88297026-88297044
46	CTCF	chr4:88297000-88297150	K562	blood:	n/a	chr4:88297028-88297049 chr4:88297026-88297044
47	CTCF	chr4:88296980-88297130	Hela-S3	cervix:	n/a	chr4:88297028-88297049 chr4:88297026-88297044
48	CTCF	chr4:88296960-88297110	AG09319	gingival:	n/a	chr4:88297028-88297049 chr4:88297026-88297044
49	CTCF	chr4:88296980-88297130	BJ	skin:	n/a	chr4:88297028-88297049 chr4:88297026-88297044
50	RAD21	chr4:88296808-88297314	A549	lung:	n/a	chr4:88297027-88297046

No.	Distal block	Cell Line	Cell type
1	chr4:88293477..88300868-chr4:88308814..88313684,7	K562	blood:
2	chr4:88296948..88297924-chr4:88386736..88387589,3	K562	blood:
3	chr4:88296681..88297512-chr4:88386982..88387860,3	MCF-7	breast:

Variant related genes	Relation type
HSD17B11	TF binding region
ENSG00000198189	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs61455435	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7665178	0.85[YRI][hapmap];1.00[AMR][1000 genomes]
rs7677089	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7684816	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7690005	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7696417	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7697166	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004518	chr4:88218473-88354403	Weak transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv1002789	chr4:88239340-88606485	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers 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	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:88254800-88311800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr4:88256200-88310600	Weak transcription	Right Ventricle	heart
3	chr4:88257800-88311800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr4:88267400-88308000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr4:88267800-88306000	Weak transcription	Fetal Brain Female	brain
6	chr4:88271200-88298000	Weak transcription	HSMMtube	muscle
7	chr4:88273400-88298800	Weak transcription	Fetal Heart	heart
8	chr4:88274400-88303400	Strong transcription	Primary neutrophils fromperipheralblood	blood
9	chr4:88274600-88297200	Strong transcription	Fetal Intestine Large	intestine
10	chr4:88274800-88298200	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr4:88275200-88299400	Strong transcription	Dnd41	blood
12	chr4:88276200-88311400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr4:88276400-88302800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr4:88278800-88297200	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr4:88279800-88297200	Strong transcription	Duodenum Mucosa	Duodenum
16	chr4:88282600-88303200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr4:88285200-88298000	Weak transcription	NH-A	brain
18	chr4:88287400-88308000	Weak transcription	Spleen	Spleen
19	chr4:88287600-88297400	Strong transcription	Primary B cells from cord blood	blood
20	chr4:88288000-88299400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr4:88288600-88297200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr4:88289400-88297200	Strong transcription	Fetal Intestine Small	intestine
23	chr4:88290400-88305600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr4:88290800-88301800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr4:88291000-88306000	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr4:88291000-88309000	Weak transcription	Right Atrium	heart
27	chr4:88292400-88297400	Strong transcription	K562	blood
28	chr4:88293000-88304800	Weak transcription	Brain Germinal Matrix	brain
29	chr4:88293000-88306800	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr4:88293000-88307200	Weak transcription	Pancreas	Pancrea
31	chr4:88293000-88307600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr4:88293000-88308000	Weak transcription	Colonic Mucosa	Colon
33	chr4:88293000-88308800	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr4:88293000-88309600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr4:88293000-88311200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr4:88293200-88302000	Weak transcription	Ovary	ovary
37	chr4:88293200-88308000	Weak transcription	Left Ventricle	heart
38	chr4:88293200-88309600	Weak transcription	Brain Hippocampus Middle	brain
39	chr4:88293200-88309600	Weak transcription	Gastric	stomach
40	chr4:88293200-88311400	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr4:88293400-88304800	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr4:88293400-88308000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr4:88293400-88309800	Weak transcription	Brain Anterior Caudate	brain
44	chr4:88293800-88297200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr4:88294000-88300800	Weak transcription	Fetal Brain Male	brain
46	chr4:88294000-88302200	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr4:88294000-88309400	Weak transcription	NHLF	lung
48	chr4:88294000-88309600	Weak transcription	Colon Smooth Muscle	Colon
49	chr4:88294000-88311000	Weak transcription	HSMM	muscle
50	chr4:88294200-88302400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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