Variant report

Variant	rs7601942
Chromosome Location	chr2:9753327-9753328
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:9750980-9757087	HepG2	liver:	n/a	n/a
2	POLR2A	chr2:9753301-9753650	K562	blood:	n/a	n/a
3	CEBPB	chr2:9753286-9753835	A549	lung:	n/a	chr2:9753472-9753483 chr2:9753598-9753609
4	POLR2A	chr2:9752087-9755033	A549	lung:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:42142647..42144954-chr2:9753163..9755825,2	MCF-7	breast:
2	chr2:9751496..9753876-chr2:9768911..9771812,4	MCF-7	breast:
3	chr2:9694040..9697595-chr2:9752237..9755817,4	MCF-7	breast:
4	chr2:9277995..9280280-chr2:9751688..9754261,2	K562	blood:
5	chr2:9752399..9758466-chr2:9767981..9772630,10	MCF-7	breast:
6	chr2:9692463..9694432-chr2:9752498..9755143,2	MCF-7	breast:
7	chr2:9752582..9755080-chr2:9755247..9757680,2	MCF-7	breast:
8	chr2:9749693..9751303-chr2:9753003..9754631,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000207086	TF binding region
ENSG00000161654	Chromatin interaction
ENSG00000271855	Chromatin interaction
ENSG00000151694	Chromatin interaction
ENSG00000207086	Chromatin interaction
ENSG00000134308	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs16867064	1.00[EUR][1000 genomes]
rs16867065	1.00[EUR][1000 genomes]
rs17428551	1.00[EUR][1000 genomes]
rs73155523	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv580915	chr2:9308148-9844178	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:9696800-9767600	Weak transcription	Gastric	stomach
2	chr2:9741400-9760000	Weak transcription	Fetal Kidney	kidney
3	chr2:9742000-9753600	Weak transcription	Fetal Lung	lung
4	chr2:9742200-9757000	Weak transcription	Fetal Muscle Trunk	muscle
5	chr2:9742400-9753400	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr2:9742800-9757800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr2:9744600-9755200	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr2:9744800-9766800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:9747800-9760200	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr2:9748000-9757000	Enhancers	Brain Hippocampus Middle	brain
11	chr2:9748600-9755000	Weak transcription	Fetal Stomach	stomach
12	chr2:9748600-9756400	Enhancers	Brain Substantia Nigra	brain
13	chr2:9748600-9765600	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr2:9748600-9766600	Weak transcription	Aorta	Aorta
15	chr2:9748600-9767600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr2:9748800-9753600	Weak transcription	HSMMtube	muscle
17	chr2:9748800-9758800	Weak transcription	Thymus	Thymus
18	chr2:9748800-9761200	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr2:9748800-9763400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr2:9749000-9753800	Weak transcription	Duodenum Mucosa	Duodenum
21	chr2:9749000-9753800	Weak transcription	Fetal Brain Female	brain
22	chr2:9749000-9754400	Weak transcription	Fetal Intestine Small	intestine
23	chr2:9749000-9755000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr2:9749000-9756800	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr2:9749000-9757800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr2:9749000-9764600	Weak transcription	Lung	lung
27	chr2:9749000-9769200	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr2:9749200-9753400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr2:9749200-9753400	Weak transcription	Liver	Liver
30	chr2:9749200-9753400	Weak transcription	Rectal Smooth Muscle	rectum
31	chr2:9749200-9764000	Weak transcription	Fetal Brain Male	brain
32	chr2:9749200-9768000	Weak transcription	Stomach Mucosa	stomach
33	chr2:9749400-9762800	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr2:9749600-9758000	Weak transcription	Primary B cells from peripheral blood	blood
35	chr2:9749600-9768200	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr2:9750000-9755800	Weak transcription	Brain Germinal Matrix	brain
37	chr2:9750000-9755800	Strong transcription	Dnd41	blood
38	chr2:9750000-9758000	Weak transcription	HUVEC	blood vessel
39	chr2:9750200-9758400	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr2:9750200-9758600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr2:9750400-9754400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr2:9750400-9756000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr2:9750800-9753600	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr2:9750800-9754200	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr2:9750800-9756400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr2:9751000-9754200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr2:9751000-9754200	Enhancers	Psoas Muscle	Psoas
48	chr2:9751000-9754400	Strong transcription	NHEK	skin
49	chr2:9751000-9757000	Enhancers	Colon Smooth Muscle	Colon
50	chr2:9751000-9757000	Enhancers	Skeletal Muscle Female	skeletal muscle

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