Variant report

Variant	rs11640414
Chromosome Location	chr16:30786715-30786716
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:452)
CpG islands
(count:61)
Chromatin interactive
region (count:34)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:452 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT5A	chr16:30786330-30787604	GM12878	blood:	n/a	n/a
2	MAX	chr16:30786270-30787655	SK-N-SH	brain:	n/a	n/a
3	TAF1	chr16:30786604-30787029	GM12878	blood:	n/a	n/a
4	STAT3	chr16:30786676-30786985	MCF10A-Er-Src	breast:	n/a	n/a
5	HMGN3	chr16:30786390-30787516	K562	blood:	n/a	n/a
6	POLR2A	chr16:30785470-30787757	K562	blood:	n/a	n/a
7	MYC	chr16:30786595-30787059	MCF10A-Er-Src	breast:	n/a	n/a
8	ATF3	chr16:30786700-30787545	A549	lung:	n/a	n/a
9	GTF2F1	chr16:30786581-30787009	Hela-S3	cervix:	n/a	n/a
10	YY1	chr16:30786322-30787606	SK-N-SH	brain:	n/a	n/a
11	MAX	chr16:30786602-30787137	GM12878	blood:	n/a	n/a
12	ETS1	chr16:30786341-30787638	K562	blood:	n/a	n/a
13	MXI1	chr16:30786569-30786984	Hela-S3	cervix:	n/a	n/a
14	STAT3	chr16:30786648-30786941	MCF10A-Er-Src	breast:	n/a	n/a
15	MXI1	chr16:30786591-30787009	GM12878	blood:	n/a	n/a
16	FOSL2	chr16:30786542-30787126	A549	lung:	n/a	n/a
17	YY1	chr16:30786455-30786914	GM12892	blood:	n/a	n/a
18	MXI1	chr16:30786565-30787388	H1-hESC	embryonic stem cell:	n/a	n/a
19	TAF1	chr16:30786637-30786992	PFSK-1	brain:	n/a	n/a
20	IRF1	chr16:30786614-30786990	K562	blood:	n/a	n/a
21	MXI1	chr16:30785984-30787824	SK-N-SH	brain:	n/a	n/a
22	SIX5	chr16:30786539-30786969	GM12878	blood:	n/a	n/a
23	GABPA	chr16:30786467-30787646	K562	blood:	n/a	n/a
24	SIX5	chr16:30786488-30787046	H1-hESC	embryonic stem cell:	n/a	n/a
25	NFIC	chr16:30786477-30787763	ECC-1	luminal epithelium:	n/a	n/a
26	POLR2A	chr16:30785393-30787718	K562	blood:	n/a	n/a
27	HEY1	chr16:30786480-30787782	K562	blood:	n/a	n/a
28	TAF7	chr16:30786695-30787346	H1-hESC	embryonic stem cell:	n/a	n/a
29	E2F4	chr16:30786691-30787002	MCF10A-Er-Src	breast:	n/a	n/a
30	TAF7	chr16:30786643-30787052	K562	blood:	n/a	n/a
31	TAF1	chr16:30786615-30787504	H1-hESC	embryonic stem cell:	n/a	n/a
32	RAD21	chr16:30786606-30787483	HepG2	liver:	n/a	n/a
33	CUX1	chr16:30786632-30786862	K562	blood:	n/a	n/a
34	POLR2A	chr16:30786621-30787653	GM19099	blood:	n/a	n/a
35	IRF1	chr16:30786649-30787017	K562	blood:	n/a	n/a
36	E2F6	chr16:30786551-30787476	K562	blood:	n/a	chr16:30787342-30787353
37	MAX	chr16:30786285-30787723	A549	lung:	n/a	n/a
38	MBD4	chr16:30786508-30787641	HepG2	liver:	n/a	n/a
39	SIX5	chr16:30786529-30786981	K562	blood:	n/a	n/a
40	POLR2A	chr16:30785790-30788431	Hela-S3	cervix:	n/a	n/a
41	POLR2A	chr16:30786622-30787640	K562	blood:	n/a	n/a
42	BCL3	chr16:30786072-30787644	A549	lung:	n/a	n/a
43	TRIM28	chr16:30786537-30787541	K562	blood:	n/a	n/a
44	YY1	chr16:30786456-30787506	ECC-1	luminal epithelium:	n/a	n/a
45	TFAP2A	chr16:30786677-30787588	Hela-S3	cervix:	n/a	chr16:30787321-30787336
46	GATA3	chr16:30786426-30787703	A549	lung:	n/a	n/a
47	MYC	chr16:30786573-30787537	K562	blood:	n/a	n/a
48	POLR2A	chr16:30786534-30787609	GM12892	blood:	n/a	n/a
49	POLR2A	chr16:30786479-30787672	K562	blood:	n/a	n/a
50	FOXA1	chr16:30786677-30786894	T-47D	breast:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:30786672-30786722	AG04450	lung:	fetal
2	chr16:30786672-30786722	GM12892	blood:	n/a
3	chr16:30786672-30786722	HL-60	blood:	n/a
4	chr16:30786672-30786722	BE2_C	brain:	n/a
5	chr16:30786672-30786722	ovcar-3	ovarian:	n/a
6	chr16:30786672-30786722	PANC-1	pancreas:	n/a
7	chr16:30786672-30786722	HEEpiC	esophagus:	n/a
8	chr16:30786672-30786722	NH-A	brain:	n/a
9	chr16:30786672-30786722	HCF	heart:	n/a
10	chr16:30786672-30786722	CMK	blood:	n/a
11	chr16:30786672-30786722	HRCEpiC	kidney:	n/a
12	chr16:30786672-30786722	BJ	skin:	n/a
13	chr16:30786672-30786722	GM06990	blood:	n/a
14	chr16:30786672-30786722	PrEC	prostate:	n/a
15	chr16:30786672-30786722	HEK293	kidney:	embryo
16	chr16:30786672-30786722	NHDF-neo	bronchial:	n/a
17	chr16:30786672-30786722	ProgFib	skin:	n/a
18	chr16:30786672-30786722	Jurkat	blood:	n/a
19	chr16:30786672-30786722	AG04449	skin:	fetal
20	chr16:30786672-30786722	AoSMC	blood vessel:	n/a
21	chr16:30786672-30786722	HCM	heart:	n/a
22	chr16:30786672-30786722	HUVEC	blood vessel:	n/a
23	chr16:30786672-30786722	LNCaP	prostate:	n/a
24	chr16:30786672-30786722	Caco-2	colon:	n/a
25	chr16:30786672-30786722	SAEC	small airway:	n/a
26	chr16:30786672-30786722	HIPEpiC	eye:	n/a
27	chr16:30786672-30786722	PFSK-1	brain:	n/a
28	chr16:30786672-30786722	MCF-7	breast:	n/a
29	chr16:30786672-30786722	HRE	kidney:	n/a
30	chr16:30786672-30786722	T-47D	breast:	n/a
31	chr16:30786672-30786722	HCPEpiC	choroid plexus:	n/a
32	chr16:30786672-30786722	HCT-116	colon:	n/a
33	chr16:30786672-30786722	Hela-S3	cervix:	n/a
34	chr16:30786672-30786722	Hepatocyte	liver:	n/a
35	chr16:30786672-30786722	A549	lung:	n/a
36	chr16:30786672-30786722	HAEpiC	amniotic membrane:	n/a
37	chr16:30786672-30786722	GM12878	blood:	n/a
38	chr16:30786672-30786722	HPAEpiC	pulmonary alveolar:	n/a
39	chr16:30786672-30786722	K562	blood:	n/a
40	chr16:30786672-30786722	NT2-D1	testis:	n/a
41	chr16:30786672-30786722	H1-hESC	embryonic stem cell:	embryo
42	chr16:30786672-30786722	MCF10A-Er-Src	breast:	n/a
43	chr16:30786672-30786722	SK-N-SH_RA	brain:	n/a
44	chr16:30786672-30786722	SKMC	muscle:	n/a
45	chr16:30786672-30786722	RPTEC	kidney:	n/a
46	chr16:30786672-30786722	SK-N-SH	brain:	n/a
47	chr16:30786672-30786722	NHBE	bronchial:	n/a
48	chr16:30786672-30786722	AG09309	skin:	n/a
49	chr16:30786672-30786722	HRPEpiC	eye:	n/a
50	chr16:30786672-30786722	GM19239	blood:	n/a

(count:34 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:30785578..30788254-chr16:30911758..30913330,2	K562	blood:
2	chr16:30750130..30751710-chr16:30786597..30789576,2	K562	blood:
3	chr16:30786021..30787668-chr16:30802132..30804628,2	K562	blood:
4	chr16:30786166..30788265-chr16:30885504..30887644,2	K562	blood:
5	chr16:30785888..30788554-chr16:30910264..30913516,3	MCF-7	breast:
6	chr16:30709167..30713119-chr16:30785919..30788328,5	MCF-7	breast:
7	chr16:30785755..30789519-chr16:30993933..30997614,3	K562	blood:
8	chr16:30786009..30790115-chr16:30903648..30907620,6	MCF-7	breast:
9	chr16:30786609..30788536-chr16:30898139..30900577,3	K562	blood:
10	chr16:30786539..30788362-chr16:30912397..30914533,2	MCF-7	breast:
11	chr16:30786391..30787332-chr6:160114182..160115127,2	Hela-S3	cervix:
12	chr16:30785759..30789223-chr16:30822658..30825886,4	K562	blood:
13	chr16:30785822..30789729-chr16:30809078..30811832,3	K562	blood:
14	chr16:30785797..30787464-chr16:30963811..30966272,2	MCF-7	breast:
15	chr16:30786121..30788746-chr16:30845072..30846818,3	K562	blood:
16	chr16:30732436..30735009-chr16:30786000..30788139,2	K562	blood:
17	chr16:30786387..30788885-chr16:30817095..30819249,4	K562	blood:
18	chr16:30785225..30786834-chr16:30968758..30970807,2	K562	blood:
19	chr16:30785880..30788115-chr16:30951936..30953609,2	K562	blood:
20	chr16:30783772..30791593-chr16:30931071..30936822,9	MCF-7	breast:
21	chr16:30786440..30787186-chr19:59061721..59062445,2	Hela-S3	cervix:
22	chr16:30785469..30788117-chr2:27975915..27977847,2	MCF-7	breast:
23	chr16:30785189..30790485-chr16:30931540..30936077,12	K562	blood:
24	chr16:30756700..30760166-chr16:30785453..30788232,3	MCF-7	breast:
25	chr16:30784974..30791554-chr16:30930641..30936449,8	MCF-7	breast:
26	chr16:30758893..30759807-chr16:30786534..30787103,2	MCF-7	breast:
27	chr16:30749452..30756542-chr16:30785692..30792123,12	MCF-7	breast:
28	chr16:30707557..30712450-chr16:30785751..30791890,10	K562	blood:
29	chr16:30785425..30787297-chr16:31190494..31192652,2	K562	blood:
30	chr16:30707849..30711301-chr16:30785397..30790684,8	K562	blood:
31	chr1:200723441..200726355-chr16:30786271..30788267,2	MCF-7	breast:
32	chr16:30785870..30788311-chr16:31468654..31470715,2	K562	blood:
33	chr16:30671278..30673717-chr16:30785023..30788710,4	MCF-7	breast:
34	chr16:30785189..30790485-chr16:30931540..30935208,7	K562	blood:

No data

Variant related genes	Relation type
ENSG00000262026	TF binding region
ENSG00000262026	CpG island
ENSG00000099377	Chromatin interaction
ENSG00000260083	Chromatin interaction
ENSG00000262721	Chromatin interaction
ENSG00000268863	Chromatin interaction
ENSG00000099364	Chromatin interaction
ENSG00000099381	Chromatin interaction
ENSG00000140691	Chromatin interaction
ENSG00000099385	Chromatin interaction
ENSG00000156873	Chromatin interaction
ENSG00000265991	Chromatin interaction
ENSG00000211591	Chromatin interaction
ENSG00000089280	Chromatin interaction
ENSG00000222287	Chromatin interaction
ENSG00000260899	Chromatin interaction
ENSG00000156860	Chromatin interaction
ENSG00000112096	Chromatin interaction
ENSG00000260852	Chromatin interaction
ENSG00000080603	Chromatin interaction
ENSG00000261840	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs4889505	0.87[AFR][1000 genomes]
rs4889508	0.83[AFR][1000 genomes]
rs7195583	0.82[AFR][1000 genomes]
rs8048656	0.85[AFR][1000 genomes]
rs8050578	0.87[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062456	chr16:30442166-31253997	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
2	nsv542898	chr16:30442166-31253997	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
3	nsv469724	chr16:30632445-30840263	Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
4	nsv482704	chr16:30632445-30840263	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
5	nsv833188	chr16:30632446-30840263	Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
6	nsv1064134	chr16:30640293-31087327	Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	238 gene(s)	inside rSNPs	diseases
7	nsv905728	chr16:30642867-30928970	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	171 gene(s)	inside rSNPs	diseases
8	nsv905729	chr16:30642867-31247924	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	387 gene(s)	inside rSNPs	diseases
9	esv1825223	chr16:30669091-30971810	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
10	nsv431451	chr16:30682399-31340999	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
11	nsv9438	chr16:30770203-30799442	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30783000-30787200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr16:30786000-30786800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr16:30786200-30786800	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr16:30786200-30786800	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
5	chr16:30786200-30786800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr16:30786200-30786800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr16:30786200-30786800	Enhancers	Sigmoid Colon	Sigmoid Colon
8	chr16:30786200-30786800	Enhancers	Small Intestine	intestine
9	chr16:30786200-30786800	Flanking Active TSS	Stomach Mucosa	stomach
10	chr16:30786200-30787000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
11	chr16:30786200-30787400	Active TSS	Primary T cells from cord blood	blood
12	chr16:30786200-30787600	Flanking Active TSS	Colonic Mucosa	Colon
13	chr16:30786200-30787600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr16:30786200-30787600	Flanking Active TSS	NH-A	brain
15	chr16:30786200-30787800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr16:30786200-30787800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr16:30786200-30787800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
18	chr16:30786200-30787800	Flanking Active TSS	Adipose Nuclei	Adipose
19	chr16:30786200-30788200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr16:30786200-30788200	Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr16:30786200-30788400	Active TSS	H9 Cell Line	embryonic stem cell
22	chr16:30786200-30788400	Active TSS	iPS-18 Cell Line	embryonic stem cell
23	chr16:30786400-30786800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr16:30786400-30786800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
25	chr16:30786400-30786800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
26	chr16:30786400-30786800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
27	chr16:30786400-30786800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
28	chr16:30786400-30786800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr16:30786400-30786800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr16:30786400-30786800	Flanking Active TSS	Liver	Liver
31	chr16:30786400-30786800	Flanking Active TSS	Esophagus	oesophagus
32	chr16:30786400-30786800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
33	chr16:30786400-30786800	Flanking Active TSS	Fetal Lung	lung
34	chr16:30786400-30786800	Flanking Active TSS	Fetal Muscle Leg	muscle
35	chr16:30786400-30786800	Flanking Active TSS	Lung	lung
36	chr16:30786400-30786800	Flanking Active TSS	Pancreas	Pancrea
37	chr16:30786400-30786800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
38	chr16:30786400-30786800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
39	chr16:30786400-30786800	Flanking Active TSS	GM12878-XiMat	blood
40	chr16:30786400-30786800	Flanking Active TSS	HepG2	liver
41	chr16:30786400-30786800	Flanking Active TSS	HSMM	muscle
42	chr16:30786400-30786800	Flanking Active TSS	NHEK	skin
43	chr16:30786400-30787000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr16:30786400-30787000	Flanking Active TSS	Duodenum Mucosa	Duodenum
45	chr16:30786400-30787000	Flanking Active TSS	Placenta	Placenta
46	chr16:30786400-30787000	Flanking Active TSS	Fetal Thymus	thymus
47	chr16:30786400-30787000	Active TSS	Gastric	stomach
48	chr16:30786400-30787000	Flanking Active TSS	HUVEC	blood vessel
49	chr16:30786400-30787200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr16:30786400-30787200	Transcr. at gene 5' and 3'	Right Atrium	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links