Variant report

Variant	rs185259343
Chromosome Location	chr9:98267256-98267257
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	ARID3A	chr9:98266249-98267286	HepG2	liver:	n/a	n/a
2	SIN3A	chr9:98266518-98275316	H1-hESC	embryonic stem cell:	n/a	chr9:98268478-98268491 chr9:98273259-98273270 chr9:98273104-98273113 chr9:98271212-98271225 chr9:98270756-98270767 chr9:98271270-98271279 chr9:98272257-98272268 chr9:98273102-98273111 chr9:98271251-98271264
3	SREBP1	chr9:98267175-98269407	GM12878	blood:	n/a	n/a
4	REST	chr9:98267183-98274539	H1-neurons	neurons:	n/a	chr9:98270976-98270989 chr9:98268273-98268286 chr9:98271222-98271240 chr9:98270100-98270109 chr9:98270699-98270717 chr9:98271458-98271466 chr9:98268565-98268575 chr9:98271242-98271255 chr9:98269758-98269778
5	RCOR1	chr9:98266358-98267391	K562	blood:	n/a	n/a
6	CHD1	chr9:98266325-98275163	IMR90	lung:	n/a	chr9:98271086-98271096 chr9:98274530-98274540

No.	Distal block	Cell Line	Cell type
1	chr9:98188569..98190136-chr9:98266994..98268557,2	MCF-7	breast:
2	chr9:98243853..98250190-chr9:98264163..98273969,14	MCF-7	breast:
3	chr9:98078830..98081414-chr9:98266391..98270806,3	MCF-7	breast:
4	chr9:98246124..98248586-chr9:98264978..98268110,3	K562	blood:
5	chr9:98187685..98192036-chr9:98266677..98274746,12	MCF-7	breast:
6	chr9:98187278..98190652-chr9:98265637..98273315,6	K562	blood:
7	chr9:98210232..98214386-chr9:98264282..98269915,4	K562	blood:
8	chr9:98253772..98257280-chr9:98266534..98270044,4	K562	blood:
9	chr9:98266714..98268433-chr9:98632145..98634773,2	MCF-7	breast:
10	chr9:98262143..98268122-chr9:98269863..98275996,9	MCF-7	breast:
11	chr9:98187644..98190286-chr9:98266151..98268622,2	K562	blood:

Variant related genes	Relation type
PTCH1	TF binding region
ENSG00000271155	TF binding region
ENSG00000158169	Chromatin interaction
ENSG00000271314	Chromatin interaction
ENSG00000237857	Chromatin interaction
ENSG00000185920	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531633	chr9:98078300-98431120	Flanking Active TSS Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv831658	chr9:98152971-98342178	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv430083	chr9:98204245-98445645	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv824994	chr9:98239963-98314431	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv824995	chr9:98243455-98326547	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv824996	chr9:98245375-98283861	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	esv3327711	chr9:98266981-98273279	Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	esv3403378	chr9:98267156-98269704	Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:98240200-98267400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr9:98243000-98267800	Weak transcription	Aorta	Aorta
3	chr9:98254000-98267400	Weak transcription	Small Intestine	intestine
4	chr9:98262800-98267600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr9:98263000-98267800	Weak transcription	Placenta	Placenta
6	chr9:98263000-98267800	Weak transcription	Lung	lung
7	chr9:98264000-98267600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
8	chr9:98264600-98268000	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr9:98264600-98268000	Weak transcription	Gastric	stomach
10	chr9:98265200-98267400	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr9:98265200-98267600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr9:98265600-98267400	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr9:98265600-98267800	Weak transcription	Fetal Muscle Trunk	muscle
14	chr9:98265800-98267400	Enhancers	NHLF	lung
15	chr9:98265800-98268600	Weak transcription	Stomach Mucosa	stomach
16	chr9:98265800-98271600	Active TSS	Rectal Mucosa Donor 29	rectum
17	chr9:98266200-98267400	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr9:98266400-98267400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr9:98266400-98267400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr9:98266400-98267400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr9:98266400-98267400	Enhancers	HSMMtube	muscle
22	chr9:98266400-98267400	Enhancers	NH-A	brain
23	chr9:98266400-98267400	Enhancers	NHDF-Ad	bronchial
24	chr9:98266400-98267600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
25	chr9:98266400-98267600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr9:98266400-98267600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr9:98266400-98267600	Enhancers	Liver	Liver
28	chr9:98266400-98267600	Enhancers	Fetal Muscle Leg	muscle
29	chr9:98266400-98267600	Enhancers	HMEC	breast
30	chr9:98266400-98267800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr9:98266400-98267800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr9:98266400-98267800	Enhancers	Colon Smooth Muscle	Colon
33	chr9:98266400-98268000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
34	chr9:98266400-98268000	Transcr. at gene 5' and 3'	Fetal Lung	lung
35	chr9:98266400-98271600	Active TSS	Rectal Mucosa Donor 31	rectum
36	chr9:98266600-98267400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr9:98266600-98267400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
38	chr9:98266600-98267400	Flanking Active TSS	Fetal Intestine Small	intestine
39	chr9:98266600-98267400	Enhancers	Psoas Muscle	Psoas
40	chr9:98266600-98267600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
41	chr9:98266600-98267600	Flanking Active TSS	HepG2	liver
42	chr9:98266600-98267600	Enhancers	NHEK	skin
43	chr9:98266600-98267600	Enhancers	Osteobl	bone
44	chr9:98266600-98267800	Enhancers	Adipose Nuclei	Adipose
45	chr9:98266600-98267800	Flanking Active TSS	Brain Substantia Nigra	brain
46	chr9:98266600-98267800	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr9:98266600-98267800	Flanking Active TSS	K562	blood
48	chr9:98266600-98268000	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr9:98266600-98268000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr9:98266600-98268000	Flanking Active TSS	Muscle Satellite Cultured Cells	--

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