Variant report

Variant	rs6506704
Chromosome Location	chr18:9831338-9831339
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:61)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:61 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SMC3	chr18:9831131-9831404	HepG2	liver:	n/a	n/a
2	CTCF	chr18:9831019-9831550	K562	blood:	n/a	n/a
3	CTCF	chr18:9831240-9831390	GM12872	blood:	n/a	n/a
4	CTCF	chr18:9831240-9831390	GM12873	blood:	n/a	n/a
5	CTCF	chr18:9831220-9831370	HMF	breast:	n/a	n/a
6	CTCF	chr18:9831240-9831390	HPF	lung:	n/a	n/a
7	CTCF	chr18:9831220-9831370	A549	lung:	n/a	n/a
8	CTCF	chr18:9831188-9831369	K562	blood:	n/a	n/a
9	CTCF	chr18:9831200-9831350	Hela-S3	cervix:	n/a	n/a
10	MYC	chr18:9831142-9831405	K562	blood:	n/a	n/a
11	CTCF	chr18:9831220-9831370	AoAF	blood vessel:	n/a	n/a
12	CTCF	chr18:9831300-9831450	HA-sp	spinal cord:	n/a	n/a
13	CTCF	chr18:9831220-9831344	HepG2	liver:	n/a	n/a
14	CTCF	chr18:9831200-9831350	GM12878	blood:	n/a	n/a
15	CTCF	chr18:9831240-9831390	NHEK	skin:	n/a	n/a
16	CTCF	chr18:9831200-9831350	GM12872	blood:	n/a	n/a
17	CTCF	chr18:9831300-9831450	SAEC	small airway:	n/a	n/a
18	ZNF143	chr18:9831210-9831346	K562	blood:	n/a	n/a
19	CTCF	chr18:9831220-9831370	HCPEpiC	choroid plexus:	n/a	n/a
20	CTCF	chr18:9831200-9831350	HCM	heart:	n/a	n/a
21	RAD21	chr18:9831179-9831423	HepG2	liver:	n/a	n/a
22	CTCF	chr18:9831220-9831370	HCM	heart:	n/a	n/a
23	CTCF	chr18:9831170-9831362	HepG2	liver:	n/a	n/a
24	RAD21	chr18:9831220-9831363	K562	blood:	n/a	n/a
25	CTCF	chr18:9831200-9831350	GM12869	blood:	n/a	n/a
26	CTCF	chr18:9831099-9831454	K562	blood:	n/a	n/a
27	CTCF	chr18:9831200-9831350	GM12868	blood:	n/a	n/a
28	CTCF	chr18:9831200-9831350	HepG2	liver:	n/a	n/a
29	CTCF	chr18:9831220-9831370	GM12866	blood:	n/a	n/a
30	CTCF	chr18:9831220-9831370	HUVEC	blood vessel:	n/a	n/a
31	CTCF	chr18:9831220-9831510	GM12867	blood:	n/a	n/a
32	CTCF	chr18:9831220-9831370	K562	blood:	n/a	n/a
33	CTCF	chr18:9831200-9831350	HCFaa	heart:	n/a	n/a
34	TBL1XR1	chr18:9831214-9831348	K562	blood:	n/a	n/a
35	CTCF	chr18:9831320-9831470	GM06990	blood:	n/a	n/a
36	CTCF	chr18:9831200-9831350	SAEC	small airway:	n/a	n/a
37	CTCF	chr18:9831220-9831370	GM12873	blood:	n/a	n/a
38	CTCF	chr18:9831200-9831350	AG09319	gingival:	n/a	n/a
39	SMC3	chr18:9831209-9831369	K562	blood:	n/a	n/a
40	CTCF	chr18:9831240-9831390	HA-sp	spinal cord:	n/a	n/a
41	CTCF	chr18:9831220-9831370	HAc	cerebellar:	n/a	n/a
42	CTCF	chr18:9831220-9831370	HBMEC	blood vessel:	n/a	n/a
43	CTCF	chr18:9831200-9831350	MCF-7	breast:	n/a	n/a
44	CTCF	chr18:9831280-9831430	HRE	kidney:	n/a	n/a
45	CTCF	chr18:9831240-9831390	BJ	skin:	n/a	n/a
46	CTCF	chr18:9831220-9831370	Caco-2	colon:	n/a	n/a
47	CTCF	chr18:9831220-9831370	GM12869	blood:	n/a	n/a
48	CTCF	chr18:9831200-9831350	HFF-Myc	foreskin:	n/a	n/a
49	CTCF	chr18:9831200-9831350	AG04450	lung:	n/a	n/a
50	CTCF	chr18:9831200-9831350	GM12865	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:9831324..9833308-chr18:9850650..9852954,2	K562	blood:
2	chr18:9830299..9831953-chr18:9913210..9915403,2	MCF-7	breast:
3	chr18:9831165..9832828-chr18:9833796..9836130,2	MCF-7	breast:
4	chr18:9829689..9832569-chr18:9935546..9937102,2	K562	blood:

No data

Variant related genes	Relation type
RN7SL862P	TF binding region
ENSG00000101558	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs16955729	0.86[CHB][hapmap];0.81[CHD][hapmap];0.82[JPT][hapmap]
rs3786424	0.98[ASN][1000 genomes]
rs72477243	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469897	chr18:9674498-9870517	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	nsv482461	chr18:9674498-9870517	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv833586	chr18:9783830-9971693	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription 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	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9807800-9832000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr18:9812400-9834600	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr18:9812400-9834800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr18:9825400-9832200	Weak transcription	Fetal Stomach	stomach
5	chr18:9825400-9849800	Weak transcription	Gastric	stomach
6	chr18:9825800-9831400	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr18:9825800-9835400	Weak transcription	Brain Angular Gyrus	brain
8	chr18:9826000-9835200	Weak transcription	Brain Anterior Caudate	brain
9	chr18:9826200-9831800	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr18:9827800-9837800	Weak transcription	Primary B cells from peripheral blood	blood
11	chr18:9828200-9831400	Weak transcription	Right Atrium	heart
12	chr18:9828200-9831600	Weak transcription	Left Ventricle	heart
13	chr18:9828200-9832200	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr18:9828400-9831400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr18:9828400-9831400	Weak transcription	Fetal Muscle Trunk	muscle
16	chr18:9828400-9831400	Weak transcription	Lung	lung
17	chr18:9828400-9831400	Weak transcription	Ovary	ovary
18	chr18:9828400-9831400	Weak transcription	Spleen	Spleen
19	chr18:9828400-9831800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr18:9828400-9832000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr18:9828400-9835600	Weak transcription	Fetal Heart	heart
22	chr18:9828400-9838400	Weak transcription	Primary hematopoietic stem cells	blood
23	chr18:9828400-9846000	Weak transcription	Pancreas	Pancrea
24	chr18:9828600-9835000	Weak transcription	Fetal Lung	lung
25	chr18:9828600-9838000	Weak transcription	HSMMtube	muscle
26	chr18:9829000-9831600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr18:9829000-9831600	Weak transcription	Esophagus	oesophagus
28	chr18:9829000-9832000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr18:9829000-9833400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr18:9829000-9838000	Weak transcription	HSMM	muscle
31	chr18:9829000-9841600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr18:9829000-9845200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr18:9829000-9848200	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr18:9829200-9831400	Genic enhancers	Hela-S3	cervix
35	chr18:9829200-9831600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr18:9829200-9831600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr18:9829400-9832000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr18:9829400-9833800	Weak transcription	NHLF	lung
39	chr18:9829400-9838000	Weak transcription	NH-A	brain
40	chr18:9829600-9831600	Enhancers	Primary neutrophils fromperipheralblood	blood
41	chr18:9829600-9832200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr18:9829600-9835000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr18:9829600-9838800	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr18:9829600-9846600	Weak transcription	NHDF-Ad	bronchial
45	chr18:9829800-9831600	Enhancers	K562	blood
46	chr18:9829800-9831800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr18:9829800-9832200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr18:9829800-9834600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr18:9829800-9834800	Weak transcription	NHEK	skin
50	chr18:9829800-9835200	Weak transcription	HMEC	breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links