Variant report

Variant	rs74051807
Chromosome Location	chr1:10118778-10118779
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:10118640-10118790	MCF-7	breast:	n/a	chr1:10118715-10118728 chr1:10118708-10118721
2	GATA3	chr1:10118549-10119192	MCF-7	breast:	n/a	n/a
3	CTCF	chr1:10118580-10118862	MCF-7	breast:	n/a	chr1:10118715-10118728 chr1:10118708-10118721
4	CTCF	chr1:10118584-10118854	MCF-7	breast:	n/a	chr1:10118715-10118728 chr1:10118708-10118721
5	RAD21	chr1:10118602-10118897	SK-N-SH_RA	brain:	n/a	chr1:10118707-10118721
6	CTCF	chr1:10118600-10118853	MCF-7	breast:	n/a	chr1:10118715-10118728 chr1:10118708-10118721
7	RAD21	chr1:10118479-10118943	MCF-7	breast:	n/a	chr1:10118707-10118721
8	CTCF	chr1:10118588-10118848	MCF-7	breast:	n/a	chr1:10118715-10118728 chr1:10118708-10118721
9	CTCF	chr1:10118592-10118854	MCF-7	breast:	n/a	chr1:10118715-10118728 chr1:10118708-10118721
10	CTCF	chr1:10118700-10118850	MCF-7	breast:	n/a	chr1:10118715-10118728 chr1:10118708-10118721

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:10118766-10118816	HPAEpiC	pulmonary alveolar:	n/a
2	chr1:10118766-10118816	GM06990	blood:	n/a
3	chr1:10118766-10118816	SK-N-SH	brain:	n/a
4	chr1:10118766-10118816	K562	blood:	n/a
5	chr1:10118766-10118816	HepG2	liver:	n/a
6	chr1:10118766-10118816	GM19239	blood:	n/a
7	chr1:10118766-10118816	BJ	skin:	n/a
8	chr1:10118766-10118816	H1-hESC	embryonic stem cell:	embryo
9	chr1:10118766-10118816	Hela-S3	cervix:	n/a
10	chr1:10118766-10118816	AoSMC	blood vessel:	n/a
11	chr1:10118766-10118816	SAEC	small airway:	n/a
12	chr1:10118766-10118816	HRE	kidney:	n/a
13	chr1:10118766-10118816	PrEC	prostate:	n/a
14	chr1:10118766-10118816	HEK293	kidney:	embryo
15	chr1:10118766-10118816	HCM	heart:	n/a
16	chr1:10118766-10118816	IMR90	lung:	fetal
17	chr1:10118766-10118816	GM12892	blood:	n/a
18	chr1:10118766-10118816	NHDF-neo	bronchial:	n/a
19	chr1:10118766-10118816	NH-A	brain:	n/a
20	chr1:10118766-10118816	HCT-116	colon:	n/a
21	chr1:10118766-10118816	PFSK-1	brain:	n/a
22	chr1:10118766-10118816	HRPEpiC	eye:	n/a
23	chr1:10118766-10118816	Caco-2	colon:	n/a
24	chr1:10118766-10118816	GM12878	blood:	n/a
25	chr1:10118766-10118816	GM12891	blood:	n/a
26	chr1:10118766-10118816	HEEpiC	esophagus:	n/a
27	chr1:10118766-10118816	PANC-1	pancreas:	n/a
28	chr1:10118766-10118816	T-47D	breast:	n/a
29	chr1:10118766-10118816	HMEC	breast:	n/a
30	chr1:10118766-10118816	AG10803	skin:	n/a
31	chr1:10118766-10118816	AG04449	skin:	fetal
32	chr1:10118766-10118816	NHBE	bronchial:	n/a
33	chr1:10118766-10118816	NT2-D1	testis:	n/a
34	chr1:10118766-10118816	HIPEpiC	eye:	n/a
35	chr1:10118766-10118816	HRCEpiC	kidney:	n/a
36	chr1:10118766-10118816	AG09309	skin:	n/a
37	chr1:10118766-10118816	NB4	blood:	n/a
38	chr1:10118766-10118816	ProgFib	skin:	n/a
39	chr1:10118766-10118816	CMK	blood:	n/a
40	chr1:10118766-10118816	SK-N-SH_RA	brain:	n/a
41	chr1:10118766-10118816	U87	brain:	n/a
42	chr1:10118766-10118816	Hepatocyte	liver:	n/a
43	chr1:10118766-10118816	MCF10A-Er-Src	breast:	n/a
44	chr1:10118766-10118816	HAEpiC	amniotic membrane:	n/a
45	chr1:10118766-10118816	Jurkat	blood:	n/a
46	chr1:10118766-10118816	LNCaP	prostate:	n/a
47	chr1:10118766-10118816	AG09319	gingival:	n/a
48	chr1:10118766-10118816	MCF-7	breast:	n/a
49	chr1:10118766-10118816	HUVEC	blood vessel:	n/a
50	chr1:10118766-10118816	SK-N-MC	brain:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:10003032..10004962-chr1:10118663..10120416,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000224340	TF binding region
ENSG00000224340	CpG island
ENSG00000162441	Chromatin interaction
ENSG00000173614	Chromatin interaction

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

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

rs_ID	r²[population]
rs12076922	0.84[ASN][1000 genomes]
rs60085278	0.80[ASN][1000 genomes]
rs60208411	0.91[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	esv3417409	chr1:9683992-10241703	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv1012469	chr1:9925714-10147796	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv527217	chr1:10093457-10257167	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10094800-10119400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:10095000-10127800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:10095000-10147600	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr1:10095200-10134400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr1:10098800-10131200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr1:10106400-10134000	Weak transcription	Colonic Mucosa	Colon
7	chr1:10106800-10128400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:10106800-10134200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr1:10106800-10155400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr1:10107000-10125200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr1:10107000-10125200	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr1:10107000-10125400	Weak transcription	Small Intestine	intestine
13	chr1:10107000-10140600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr1:10107200-10118800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr1:10107200-10124000	Weak transcription	Fetal Brain Female	brain
16	chr1:10107200-10125200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:10107200-10125200	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr1:10107400-10124000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr1:10107400-10124200	Strong transcription	Fetal Intestine Small	intestine
20	chr1:10107400-10125200	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr1:10107400-10125400	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr1:10107400-10135200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr1:10107400-10165400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr1:10107600-10125400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr1:10109000-10126400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr1:10109400-10158400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr1:10111400-10125200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr1:10111400-10127000	Weak transcription	Fetal Lung	lung
29	chr1:10111800-10118800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr1:10113000-10124000	Weak transcription	Primary hematopoietic stem cells	blood
31	chr1:10113000-10132000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr1:10113600-10120400	Enhancers	Brain Substantia Nigra	brain
33	chr1:10114200-10120800	Enhancers	Brain Cingulate Gyrus	brain
34	chr1:10114400-10119000	Enhancers	Brain Anterior Caudate	brain
35	chr1:10114400-10120200	Enhancers	Brain Angular Gyrus	brain
36	chr1:10114400-10121000	Enhancers	Brain Hippocampus Middle	brain
37	chr1:10114800-10119200	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr1:10114800-10125200	Weak transcription	Brain Germinal Matrix	brain
39	chr1:10115800-10120200	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr1:10116000-10118800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr1:10116000-10118800	Enhancers	Rectal Smooth Muscle	rectum
42	chr1:10116200-10124200	Weak transcription	HUVEC	blood vessel
43	chr1:10116400-10119200	Enhancers	Liver	Liver
44	chr1:10116600-10118800	Genic enhancers	NHEK	skin
45	chr1:10116600-10119400	Weak transcription	Hela-S3	cervix
46	chr1:10116600-10120200	Enhancers	Right Ventricle	heart
47	chr1:10116600-10145000	Weak transcription	Stomach Mucosa	stomach
48	chr1:10116800-10118800	Enhancers	Pancreas	Pancrea
49	chr1:10116800-10119400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr1:10117000-10119000	Weak transcription	Primary neutrophils fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links