Variant report

Variant	rs12421788
Chromosome Location	chr11:93260728-93260729
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	MTA3	chr11:93258602-93260862	GM12878	blood:	n/a	n/a
2	RUNX3	chr11:93258735-93260857	GM12878	blood:	n/a	n/a
3	MEF2A	chr11:93260372-93260765	GM12878	blood:	n/a	n/a
4	FOXM1	chr11:93260186-93260774	GM12878	blood:	n/a	n/a
5	BCLAF1	chr11:93260150-93260734	GM12878	blood:	n/a	n/a
6	ATF2	chr11:93258703-93260799	GM12878	blood:	n/a	n/a
7	EBF1	chr11:93258987-93260745	GM12878	blood:	n/a	chr11:93259380-93259391
8	POLR2A	chr11:93259479-93260912	GM12878	blood:	n/a	n/a
9	CTCF	chr11:93260681-93260755	Fibrobl	skin:	n/a	n/a
10	NFIC	chr11:93260021-93260784	GM12878	blood:	n/a	n/a
11	ZNF384	chr11:93260202-93260788	GM12878	blood:	n/a	n/a
12	RUNX3	chr11:93258732-93260827	GM12878	blood:	n/a	n/a
13	WRNIP1	chr11:93259577-93260920	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:93259393..93261836-chr11:93266533..93269346,3	K562	blood:
2	chr11:93257690..93261836-chr11:93263663..93269980,6	K562	blood:

Variant related genes	Relation type
SMCO4	TF binding region
ENSG00000234106	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10831054	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs12417512	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12419415	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12419851	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12792233	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs16919027	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2305662	0.92[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2399672	0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs3794005	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4753466	0.84[AMR][1000 genomes]
rs60912147	0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7935607	0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs975363	0.86[AMR][1000 genomes]
rs975606	0.90[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs988225	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[ASN][1000 genomes]

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	nsv898181	chr11:93072843-93662459	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv1039623	chr11:93141461-93328739	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	esv2760208	chr11:93172673-93266594	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93248000-93261800	Weak transcription	Fetal Stomach	stomach
2	chr11:93249000-93261600	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr11:93251000-93261400	Weak transcription	Fetal Brain Male	brain
4	chr11:93251000-93261600	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr11:93251000-93261600	Weak transcription	Aorta	Aorta
6	chr11:93252000-93266800	Enhancers	Fetal Thymus	thymus
7	chr11:93252200-93260800	Enhancers	Dnd41	blood
8	chr11:93253800-93266200	Weak transcription	Fetal Brain Female	brain
9	chr11:93255000-93263600	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr11:93255000-93274600	Weak transcription	Hela-S3	cervix
11	chr11:93255600-93262200	Weak transcription	Brain Germinal Matrix	brain
12	chr11:93255800-93261600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr11:93255800-93262000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr11:93255800-93263000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr11:93256000-93262200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr11:93256200-93263800	Enhancers	Primary B cells from peripheral blood	blood
17	chr11:93256200-93266000	Enhancers	Primary T cells fromperipheralblood	blood
18	chr11:93256400-93266600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr11:93256800-93261000	Flanking Active TSS	GM12878-XiMat	blood
20	chr11:93257000-93261000	Enhancers	Thymus	Thymus
21	chr11:93257200-93264800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr11:93257400-93260800	Enhancers	Primary hematopoietic stem cells	blood
23	chr11:93257400-93264000	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr11:93257400-93264800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr11:93257400-93266600	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr11:93257600-93261000	Enhancers	Placenta	Placenta
27	chr11:93257600-93261000	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr11:93257600-93263000	Enhancers	HepG2	liver
29	chr11:93257600-93264000	Enhancers	Right Ventricle	heart
30	chr11:93257600-93264400	Enhancers	Fetal Muscle Leg	muscle
31	chr11:93257800-93261000	Enhancers	Psoas Muscle	Psoas
32	chr11:93257800-93261600	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr11:93257800-93264200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr11:93257800-93264200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr11:93258000-93262400	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr11:93258000-93264600	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr11:93258200-93262000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr11:93258200-93266400	Enhancers	Primary T cells from cord blood	blood
39	chr11:93258400-93261600	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr11:93258400-93261600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr11:93258400-93262000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr11:93258400-93262400	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr11:93258400-93274800	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr11:93258600-93262000	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr11:93258600-93262000	Weak transcription	Colon Smooth Muscle	Colon
46	chr11:93258600-93262800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr11:93259000-93261400	Weak transcription	Stomach Smooth Muscle	stomach
48	chr11:93259000-93262200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr11:93259200-93261400	Weak transcription	Brain Anterior Caudate	brain
50	chr11:93259200-93262200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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