Variant report

Variant	rs11635930
Chromosome Location	chr15:74291751-74291752
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	RCOR1	chr15:74291707-74291907	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:74276152..74278081-chr15:74290806..74293651,2	K562	blood:

Variant related genes	Relation type
STOML1	TF binding region

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1052242	0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1052246	0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10851866	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10851867	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10851868	0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11072458	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11072461	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11072462	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11072463	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11072464	0.80[AMR][1000 genomes]
rs11633735	0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11636016	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11636065	0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11636150	0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11854321	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11857498	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12593528	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12899085	0.82[AMR][1000 genomes]
rs12901603	0.81[AMR][1000 genomes]
rs12902857	0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12902945	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12904213	0.80[AMR][1000 genomes]
rs12908748	0.82[AMR][1000 genomes]
rs12910581	0.89[AMR][1000 genomes]
rs12911807	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12911984	0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2165242	0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2277599	0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2304715	0.81[AMR][1000 genomes]
rs2304716	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2415206	0.85[AMR][1000 genomes]
rs3784561	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3784562	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4287518	0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4547288	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4886820	0.91[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4886844	0.80[AMR][1000 genomes]
rs4886845	0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4886846	0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs56194867	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7183908	0.84[ASN][1000 genomes]
rs734854	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs743580	0.89[ASN][1000 genomes]
rs752004	0.88[ASN][1000 genomes]
rs8027327	0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs8027447	0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs8028557	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8038991	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8039276	0.81[AMR][1000 genomes]
rs8039404	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8043489	0.80[AMR][1000 genomes]
rs9479	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758387	chr15:74215114-74464916	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	esv2760040	chr15:74215114-74464916	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv428308	chr15:74215114-74464916	Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv833052	chr15:74250378-74377150	Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv518316	chr15:74290993-74331083	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:74288200-74301800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr15:74288200-74303000	Weak transcription	A549	lung
3	chr15:74288200-74303800	Weak transcription	Brain Angular Gyrus	brain
4	chr15:74288200-74331000	Weak transcription	Fetal Heart	heart
5	chr15:74289600-74302400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr15:74289800-74292000	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr15:74289800-74292000	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
8	chr15:74289800-74293000	Genic enhancers	Primary T cells fromperipheralblood	blood
9	chr15:74289800-74296000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
10	chr15:74289800-74303200	Weak transcription	Brain Substantia Nigra	brain
11	chr15:74289800-74331000	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr15:74290000-74292000	Genic enhancers	Primary T cells from cord blood	blood
13	chr15:74290000-74292000	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
14	chr15:74290000-74295200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr15:74290000-74299000	Weak transcription	Stomach Mucosa	stomach
16	chr15:74290000-74303400	Weak transcription	Fetal Kidney	kidney
17	chr15:74290000-74314800	Weak transcription	Brain Cingulate Gyrus	brain
18	chr15:74290200-74292000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr15:74290200-74292000	Genic enhancers	Primary B cells from cord blood	blood
20	chr15:74290200-74292000	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr15:74290200-74292000	Strong transcription	Cortex derived primary cultured neurospheres	brain
22	chr15:74290200-74292000	Strong transcription	Fetal Brain Female	brain
23	chr15:74290200-74292000	Strong transcription	HSMMtube	muscle
24	chr15:74290200-74292000	Strong transcription	NH-A	brain
25	chr15:74290200-74292400	Genic enhancers	Primary hematopoietic stem cells	blood
26	chr15:74290200-74292800	Genic enhancers	Primary B cells from peripheral blood	blood
27	chr15:74290200-74293000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr15:74290200-74293400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr15:74290200-74298200	Weak transcription	HepG2	liver
30	chr15:74290400-74291800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr15:74290400-74291800	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr15:74290400-74291800	Genic enhancers	Duodenum Mucosa	Duodenum
33	chr15:74290400-74292000	Strong transcription	H9 Cell Line	embryonic stem cell
34	chr15:74290400-74292000	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr15:74290400-74292000	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr15:74290400-74292000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr15:74290400-74292000	Genic enhancers	Liver	Liver
38	chr15:74290400-74292000	Strong transcription	Fetal Intestine Large	intestine
39	chr15:74290400-74292000	Genic enhancers	Skeletal Muscle Female	skeletal muscle
40	chr15:74290400-74292000	Genic enhancers	HUVEC	blood vessel
41	chr15:74290400-74292000	Genic enhancers	NHDF-Ad	bronchial
42	chr15:74290400-74292000	Genic enhancers	Osteobl	bone
43	chr15:74290400-74292400	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
44	chr15:74290400-74293400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr15:74290400-74293600	Strong transcription	HUES48 Cell Line	embryonic stem cell
46	chr15:74290400-74299000	Strong transcription	Fetal Thymus	thymus
47	chr15:74290600-74291800	Transcr. at gene 5' and 3'	Adipose Nuclei	Adipose
48	chr15:74290600-74291800	Strong transcription	Brain Inferior Temporal Lobe	brain
49	chr15:74290600-74291800	Strong transcription	HMEC	breast
50	chr15:74290600-74292000	Strong transcription	HUES6 Cell Line	embryonic stem cell

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