Variant report

Variant	rs184726440
Chromosome Location	chr12:9840018-9840019
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	CTCF	chr12:9839940-9840090	HEEpiC	esophagus:	n/a	n/a
2	POLR2A	chr12:9839654-9840405	GM12892	blood:	n/a	n/a
3	CTCF	chr12:9839923-9840047	MCF-7	breast:	n/a	n/a
4	JUN	chr12:9839950-9840169	K562	blood:	n/a	n/a
5	FOS	chr12:9839881-9840248	MCF10A-Er-Src	breast:	n/a	n/a
6	CTCF	chr12:9839900-9840050	AG04449	skin:	n/a	n/a
7	FOS	chr12:9839892-9840232	MCF10A-Er-Src	breast:	n/a	n/a
8	CTCF	chr12:9839960-9840110	BE2_C	brain:	n/a	n/a
9	FOS	chr12:9839813-9840240	MCF10A-Er-Src	breast:	n/a	n/a
10	JUND	chr12:9839905-9840215	K562	blood:	n/a	n/a
11	CTCF	chr12:9839911-9840048	MCF-7	breast:	n/a	n/a
12	POLR2A	chr12:9839675-9840354	GM12892	blood:	n/a	n/a
13	CTCF	chr12:9839900-9840050	HBMEC	blood vessel:	n/a	n/a
14	POLR2A	chr12:9839849-9840082	GM12878	blood:	n/a	n/a
15	MAFK	chr12:9839978-9840137	K562	blood:	n/a	n/a
16	RCOR1	chr12:9839937-9840172	K562	blood:	n/a	n/a
17	RCOR1	chr12:9839957-9840154	K562	blood:	n/a	n/a
18	CTCF	chr12:9839980-9840130	MCF-7	breast:	n/a	n/a
19	CTCF	chr12:9839920-9840070	HCPEpiC	choroid plexus:	n/a	n/a
20	POLR2A	chr12:9839767-9840275	GM12892	blood:	n/a	n/a
21	FOS	chr12:9839858-9840274	MCF10A-Er-Src	breast:	n/a	n/a
22	ELF1	chr12:9839893-9840183	K562	blood:	n/a	chr12:9840067-9840080
23	CTCF	chr12:9839936-9840073	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr12:9839726-9840381	GM12892	blood:	n/a	n/a
25	CTCF	chr12:9839917-9840019	GM10248	blood:	n/a	n/a
26	POLR2A	chr12:9839747-9840337	GM12878	blood:	n/a	n/a
27	FOSL1	chr12:9839843-9840292	HCT-116	colon:	n/a	n/a
28	CTCF	chr12:9839880-9840030	HCPEpiC	choroid plexus:	n/a	n/a
29	CTCF	chr12:9839958-9840052	Fibrobl	skin:	n/a	n/a

Variant related genes	Relation type
CLEC2D	TF binding region

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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	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
3	esv3443062	chr12:9839782-9840050	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats	TF binding region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

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	chr12:9818000-9849800	Weak transcription	Brain Germinal Matrix	brain
7	chr12:9826400-9849000	Weak transcription	Psoas Muscle	Psoas
8	chr12:9826600-9847200	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr12:9826600-9852400	Weak transcription	Colon Smooth Muscle	Colon
10	chr12:9826800-9840600	Weak transcription	HSMMtube	muscle
11	chr12:9826800-9841000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr12:9826800-9841400	Weak transcription	Duodenum Mucosa	Duodenum
13	chr12:9826800-9844600	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr12:9826800-9848400	Weak transcription	Colonic Mucosa	Colon
15	chr12:9826800-9849400	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr12:9826800-9849800	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr12:9826800-9854400	Weak transcription	Esophagus	oesophagus
18	chr12:9827000-9840800	Weak transcription	Adipose Nuclei	Adipose
19	chr12:9827000-9853200	Weak transcription	Rectal Smooth Muscle	rectum
20	chr12:9827200-9840200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr12:9827200-9840600	Weak transcription	HSMM	muscle
22	chr12:9827200-9841000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr12:9827200-9847000	Weak transcription	NH-A	brain
24	chr12:9827200-9847400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr12:9827200-9847600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr12:9827200-9851000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr12:9827200-9851600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr12:9827200-9852400	Weak transcription	Osteobl	bone
29	chr12:9827400-9840600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr12:9827400-9849000	Weak transcription	A549	lung
31	chr12:9828800-9840600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr12:9832800-9846000	Weak transcription	Gastric	stomach
33	chr12:9833000-9840600	Weak transcription	Dnd41	blood
34	chr12:9833000-9849000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr12:9833200-9847200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr12:9834000-9840800	Weak transcription	Placenta	Placenta
37	chr12:9834400-9840600	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr12:9835000-9840600	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr12:9835400-9840200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr12:9835400-9849200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr12:9835800-9847000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr12:9836000-9843000	Weak transcription	Liver	Liver
43	chr12:9836200-9840400	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr12:9836200-9840800	Genic enhancers	Primary B cells from peripheral blood	blood
45	chr12:9836400-9840400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
46	chr12:9836800-9840200	Genic enhancers	Primary B cells from cord blood	blood
47	chr12:9836800-9841800	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
48	chr12:9837000-9840400	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr12:9837000-9841000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
50	chr12:9837000-9841200	Genic enhancers	Primary T cells fromperipheralblood	blood

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