Variant report

Variant	rs7302498
Chromosome Location	chr12:9839445-9839446
allele	A/C
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	POLR2A	chr12:9839283-9839815	GM12878	blood:	n/a	n/a
2	POLR2A	chr12:9837961-9839644	GM12892	blood:	n/a	n/a

Variant related genes	Relation type
CLEC2D	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10734807	1.00[EUR][1000 genomes]
rs10734809	1.00[EUR][1000 genomes]
rs2192440	0.90[EUR][1000 genomes]
rs2401389	0.90[EUR][1000 genomes]
rs4508286	1.00[EUR][1000 genomes]
rs4763738	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs4763812	1.00[EUR][1000 genomes]
rs7964290	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758293	chr12:9371595-9923529	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
2	esv2759878	chr12:9371595-9923529	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9802400-9849800	Weak transcription	Pancreas	Pancrea
2	chr12:9807600-9847200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr12:9815200-9840600	Weak transcription	Fetal Brain Male	brain
4	chr12:9815200-9841600	Weak transcription	Fetal Kidney	kidney
5	chr12:9816200-9840600	Weak transcription	Stomach Smooth Muscle	stomach
6	chr12:9818000-9839800	Weak transcription	Ovary	ovary
7	chr12:9818000-9840000	Weak transcription	Fetal Intestine Large	intestine
8	chr12:9818000-9849800	Weak transcription	Brain Germinal Matrix	brain
9	chr12:9818200-9840000	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr12:9826400-9849000	Weak transcription	Psoas Muscle	Psoas
11	chr12:9826600-9847200	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr12:9826600-9852400	Weak transcription	Colon Smooth Muscle	Colon
13	chr12:9826800-9840000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr12:9826800-9840600	Weak transcription	HSMMtube	muscle
15	chr12:9826800-9841000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr12:9826800-9841400	Weak transcription	Duodenum Mucosa	Duodenum
17	chr12:9826800-9844600	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr12:9826800-9848400	Weak transcription	Colonic Mucosa	Colon
19	chr12:9826800-9849400	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr12:9826800-9849800	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr12:9826800-9854400	Weak transcription	Esophagus	oesophagus
22	chr12:9827000-9840800	Weak transcription	Adipose Nuclei	Adipose
23	chr12:9827000-9853200	Weak transcription	Rectal Smooth Muscle	rectum
24	chr12:9827200-9840200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr12:9827200-9840600	Weak transcription	HSMM	muscle
26	chr12:9827200-9841000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr12:9827200-9847000	Weak transcription	NH-A	brain
28	chr12:9827200-9847400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr12:9827200-9847600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr12:9827200-9851000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr12:9827200-9851600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr12:9827200-9852400	Weak transcription	Osteobl	bone
33	chr12:9827400-9840600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr12:9827400-9849000	Weak transcription	A549	lung
35	chr12:9828800-9840600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr12:9832800-9846000	Weak transcription	Gastric	stomach
37	chr12:9833000-9839800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr12:9833000-9840600	Weak transcription	Dnd41	blood
39	chr12:9833000-9849000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr12:9833200-9847200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr12:9834000-9840800	Weak transcription	Placenta	Placenta
42	chr12:9834400-9840000	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr12:9834400-9840600	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr12:9835000-9840600	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr12:9835400-9840200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr12:9835400-9849200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr12:9835800-9847000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr12:9836000-9843000	Weak transcription	Liver	Liver
49	chr12:9836200-9840400	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
50	chr12:9836200-9840800	Genic enhancers	Primary B cells from peripheral blood	blood

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