Variant report

Variant	rs376294614
Chromosome Location	chr17:46188901-46188902
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	NFIC	chr17:46188901-46189997	GM12878	blood:	n/a	chr17:46189213-46189229
2	PML	chr17:46188887-46189666	GM12878	blood:	n/a	n/a
3	POLR2A	chr17:46188895-46190142	GM12878	blood:	n/a	n/a
4	POLR2A	chr17:46185296-46189875	K562	blood:	n/a	n/a
5	BHLHE40	chr17:46188160-46189547	GM12878	blood:	n/a	n/a
6	ZNF384	chr17:46188654-46189408	GM12878	blood:	n/a	n/a
7	RCOR1	chr17:46188439-46189874	GM12878	blood:	n/a	n/a
8	POLR2A	chr17:46187976-46190071	GM12878	blood:	n/a	n/a
9	POLR2A	chr17:46188895-46189707	GM12892	blood:	n/a	n/a
10	RELA	chr17:46188190-46190034	GM12891	blood:	n/a	chr17:46189318-46189327 chr17:46189318-46189327
11	EBF1	chr17:46187646-46189774	GM12878	blood:	n/a	chr17:46189195-46189206

No.	Distal block	Cell Line	Cell type
1	chr17:46184602..46186632-chr17:46186895..46189927,3	MCF-7	breast:
2	chr17:46175023..46180196-chr17:46181333..46189268,23	MCF-7	breast:
3	chr17:46125014..46129511-chr17:46182877..46189561,8	K562	blood:
4	chr17:46124943..46127247-chr17:46188061..46189641,2	K562	blood:

Variant related genes	Relation type
SNX11	TF binding region
ENSG00000108468	Chromatin interaction
ENSG00000002919	Chromatin interaction
ENSG00000263412	Chromatin interaction
ENSG00000082641	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469808	chr17:46049868-46228673	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
2	nsv482897	chr17:46049868-46228673	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
3	nsv908576	chr17:46147807-46260366	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
4	nsv112217	chr17:46182711-46190093	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	esv1007058	chr17:46188741-46200367	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46185600-46191000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr17:46185800-46190000	Weak transcription	Lung	lung
3	chr17:46185800-46193000	Weak transcription	Gastric	stomach
4	chr17:46185800-46195800	Weak transcription	Ovary	ovary
5	chr17:46186000-46189200	Weak transcription	Colonic Mucosa	Colon
6	chr17:46186000-46195200	Weak transcription	Aorta	Aorta
7	chr17:46186000-46196200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr17:46186000-46198600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr17:46186200-46189000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr17:46186200-46189400	Weak transcription	Placenta	Placenta
11	chr17:46186200-46189600	Weak transcription	Fetal Muscle Leg	muscle
12	chr17:46186200-46189600	Weak transcription	Thymus	Thymus
13	chr17:46186200-46189800	Weak transcription	Fetal Stomach	stomach
14	chr17:46186200-46190000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr17:46186200-46190400	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr17:46186200-46190400	Weak transcription	Esophagus	oesophagus
17	chr17:46186200-46190400	Weak transcription	Fetal Kidney	kidney
18	chr17:46186200-46190600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr17:46186200-46190600	Weak transcription	Stomach Smooth Muscle	stomach
20	chr17:46186200-46192000	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr17:46186200-46192600	Weak transcription	Colon Smooth Muscle	Colon
22	chr17:46186200-46192600	Weak transcription	A549	lung
23	chr17:46186200-46193800	Weak transcription	Fetal Lung	lung
24	chr17:46186200-46195000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr17:46186200-46195200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr17:46186200-46196200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr17:46186200-46198600	Weak transcription	Fetal Brain Male	brain
28	chr17:46186200-46203600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr17:46186400-46189200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr17:46186400-46189200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr17:46186400-46189200	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr17:46186400-46189400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr17:46186400-46189600	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr17:46186400-46189800	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr17:46186400-46189800	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr17:46186400-46190000	Weak transcription	Brain Germinal Matrix	brain
37	chr17:46186400-46190400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr17:46186400-46190400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr17:46186400-46190400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr17:46186400-46190400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr17:46186400-46190400	Weak transcription	NHLF	lung
42	chr17:46186400-46191800	Weak transcription	Fetal Intestine Large	intestine
43	chr17:46186400-46192200	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr17:46186400-46192400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr17:46186400-46193000	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr17:46186400-46193000	Weak transcription	Duodenum Mucosa	Duodenum
47	chr17:46186400-46193400	Weak transcription	Osteobl	bone
48	chr17:46186400-46193600	Weak transcription	HSMMtube	muscle
49	chr17:46186400-46194800	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr17:46186400-46195000	Weak transcription	Rectal Mucosa Donor 31	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links