Variant report

Variant	rs11051541
Chromosome Location	chr12:31861760-31861761
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:31860661..31864274-chr12:31866939..31870536,4	K562	blood:
2	chr12:31861423..31863642-chr12:31880479..31882083,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000151743	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10844000	0.95[CEU][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10844003	0.85[AMR][1000 genomes]
rs10844047	1.00[YRI][hapmap]
rs11051525	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11051545	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11051555	0.85[AMR][1000 genomes]
rs11051559	0.95[CEU][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes]
rs12813042	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12813399	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12813695	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes]
rs35517071	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs3850979	1.00[JPT][hapmap]
rs4272861	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7134951	0.90[AMR][1000 genomes]
rs7297921	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7300260	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7302229	0.93[AMR][1000 genomes]
rs7953551	0.85[AMR][1000 genomes]
rs7960893	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7969019	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes]
rs7978407	0.96[AMR][1000 genomes];0.94[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	esv2760267	chr12:31626732-31909908	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv1043010	chr12:31798446-32143151	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv541446	chr12:31798446-32143151	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	esv3432694	chr12:31801467-32109828	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv898966	chr12:31810126-31944985	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv898967	chr12:31858031-31899475	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31822600-31862000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr12:31822600-31874200	Weak transcription	Right Ventricle	heart
3	chr12:31827000-31871800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr12:31837200-31865000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr12:31838600-31881000	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr12:31839800-31871800	Weak transcription	Gastric	stomach
7	chr12:31840200-31861800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr12:31841600-31870000	Weak transcription	Pancreas	Pancrea
9	chr12:31844600-31871800	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr12:31846400-31862400	Weak transcription	Aorta	Aorta
11	chr12:31846400-31871800	Weak transcription	Lung	lung
12	chr12:31849000-31880000	Weak transcription	Psoas Muscle	Psoas
13	chr12:31850800-31867600	Weak transcription	Brain Substantia Nigra	brain
14	chr12:31851000-31880800	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr12:31851600-31863200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr12:31852800-31861800	Weak transcription	Left Ventricle	heart
17	chr12:31852800-31871000	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr12:31852800-31879600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr12:31853000-31867200	Weak transcription	Brain Anterior Caudate	brain
20	chr12:31853400-31861800	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr12:31854400-31862200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr12:31854600-31867400	Weak transcription	Brain Cingulate Gyrus	brain
23	chr12:31854800-31867600	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr12:31855000-31867600	Weak transcription	Brain Hippocampus Middle	brain
25	chr12:31855400-31867600	Weak transcription	Stomach Mucosa	stomach
26	chr12:31858000-31867600	Weak transcription	A549	lung
27	chr12:31858000-31867800	Weak transcription	HUVEC	blood vessel
28	chr12:31858800-31863600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr12:31859000-31871800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr12:31859400-31862000	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr12:31859400-31862800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr12:31859800-31861800	Weak transcription	Fetal Stomach	stomach
33	chr12:31859800-31864400	Weak transcription	Duodenum Mucosa	Duodenum
34	chr12:31860200-31862000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr12:31860200-31862600	ZNF genes & repeats	Primary B cells from cord blood	blood
36	chr12:31860200-31862600	ZNF genes & repeats	Primary B cells from peripheral blood	blood
37	chr12:31860200-31862800	Strong transcription	Primary T cells from cord blood	blood
38	chr12:31860200-31862800	ZNF genes & repeats	Fetal Intestine Small	intestine
39	chr12:31860400-31862400	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
40	chr12:31860400-31862600	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
41	chr12:31860400-31872400	Weak transcription	Fetal Kidney	kidney
42	chr12:31860600-31862600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr12:31860600-31874000	Weak transcription	Stomach Smooth Muscle	stomach
44	chr12:31860800-31861800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr12:31860800-31871800	Weak transcription	Ovary	ovary
46	chr12:31860800-31881000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr12:31861000-31861800	Weak transcription	Fetal Brain Female	brain
48	chr12:31861000-31861800	Weak transcription	Fetal Thymus	thymus
49	chr12:31861000-31861800	Weak transcription	Thymus	Thymus
50	chr12:31861000-31871800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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