Variant report

Variant	rs16914557
Chromosome Location	chr12:9821661-9821662
allele	A/G
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	chr12:9819935-9822633	GM12891	blood:	n/a	n/a
2	POLR2A	chr12:9821545-9821837	GM12878	blood:	n/a	n/a
3	RUNX3	chr12:9821542-9822630	GM12878	blood:	n/a	n/a
4	POLR2A	chr12:9821170-9825303	GM18505	blood:	n/a	n/a
5	NFIC	chr12:9821522-9822880	GM12878	blood:	n/a	n/a
6	POLR2A	chr12:9821389-9827321	Raji	blood:	n/a	n/a
7	POLR2A	chr12:9821415-9825168	GM19099	blood:	n/a	n/a
8	RELA	chr12:9821538-9822562	GM19193	blood:	n/a	n/a
9	POLR2A	chr12:9821330-9825306	GM19193	blood:	n/a	n/a
10	NFIC	chr12:9821621-9822743	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
CLEC2D	TF binding region

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11052274	0.96[EUR][1000 genomes]
rs11830731	0.96[EUR][1000 genomes]
rs12322854	0.92[EUR][1000 genomes]
rs1560009	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1560010	0.96[EUR][1000 genomes]
rs16909916	0.87[EUR][1000 genomes]
rs16914229	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16927513	1.00[AFR][1000 genomes]
rs71441744	1.00[AFR][1000 genomes]
rs9919714	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427903	chr12:9371593-9830668	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
2	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
3	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
4	esv1821732	chr12:9560087-9830668	Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	esv1823760	chr12:9560087-9830668	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv428271	chr12:9560087-9830668	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9802400-9849800	Weak transcription	Pancreas	Pancrea
2	chr12:9803000-9822200	Weak transcription	Small Intestine	intestine
3	chr12:9803600-9826200	Weak transcription	Esophagus	oesophagus
4	chr12:9807000-9826000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr12:9807600-9847200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr12:9812800-9825800	Weak transcription	Right Ventricle	heart
7	chr12:9813000-9825800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr12:9813000-9826200	Weak transcription	Brain Anterior Caudate	brain
9	chr12:9813000-9826200	Weak transcription	Gastric	stomach
10	chr12:9813800-9826000	Weak transcription	NHDF-Ad	bronchial
11	chr12:9815000-9822400	Weak transcription	Duodenum Mucosa	Duodenum
12	chr12:9815000-9826000	Weak transcription	Lung	lung
13	chr12:9815000-9826000	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr12:9815000-9826200	Weak transcription	Colonic Mucosa	Colon
15	chr12:9815000-9826200	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr12:9815000-9826400	Weak transcription	Fetal Intestine Small	intestine
17	chr12:9815200-9824000	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr12:9815200-9825000	Weak transcription	K562	blood
19	chr12:9815200-9825800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr12:9815200-9825800	Weak transcription	Colon Smooth Muscle	Colon
21	chr12:9815200-9826200	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr12:9815200-9828400	Weak transcription	Liver	Liver
23	chr12:9815200-9840600	Weak transcription	Fetal Brain Male	brain
24	chr12:9815200-9841600	Weak transcription	Fetal Kidney	kidney
25	chr12:9815400-9825000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr12:9815400-9825600	Weak transcription	HepG2	liver
27	chr12:9815600-9825200	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr12:9815600-9825600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr12:9815600-9825800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr12:9815600-9826000	Weak transcription	Spleen	Spleen
31	chr12:9815600-9833800	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr12:9815800-9825600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr12:9816200-9832600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr12:9816200-9840600	Weak transcription	Stomach Smooth Muscle	stomach
35	chr12:9817000-9826000	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr12:9817200-9824800	Weak transcription	Dnd41	blood
37	chr12:9817200-9837800	Weak transcription	Aorta	Aorta
38	chr12:9817600-9825400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr12:9817600-9826400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr12:9818000-9825800	Weak transcription	Fetal Muscle Leg	muscle
41	chr12:9818000-9825800	Weak transcription	Placenta	Placenta
42	chr12:9818000-9826000	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr12:9818000-9826000	Weak transcription	Fetal Stomach	stomach
44	chr12:9818000-9826000	Weak transcription	Left Ventricle	heart
45	chr12:9818000-9826200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr12:9818000-9839200	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr12:9818000-9839800	Weak transcription	Ovary	ovary
48	chr12:9818000-9840000	Weak transcription	Fetal Intestine Large	intestine
49	chr12:9818000-9849800	Weak transcription	Brain Germinal Matrix	brain
50	chr12:9818200-9822200	Weak transcription	Rectal Mucosa Donor 29	rectum

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