Variant report

Variant	rs11168795
Chromosome Location	chr12:49327458-49327459
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:49223352..49226307-chr12:49326935..49329370,2	MCF-7	breast:
2	chr12:49326856..49329260-chr12:49347521..49351353,3	K562	blood:
3	chr12:49317829..49322118-chr12:49322940..49327806,7	MCF-7	breast:
4	chr12:49326274..49328572-chr12:49329967..49332828,2	K562	blood:
5	chr12:49214006..49216991-chr12:49326727..49328783,2	K562	blood:
6	chr12:49326822..49334011-chr12:49345841..49353556,12	MCF-7	breast:
7	chr12:49326790..49329370-chr12:49350425..49352481,3	MCF-7	breast:
8	chr12:49223817..49225948-chr12:49327088..49329246,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000134285	Chromatin interaction
ENSG00000201678	Chromatin interaction
ENSG00000134287	Chromatin interaction
ENSG00000272822	Chromatin interaction

Extended variants
information (count: 122 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:119)

rs_ID	r²[population]
rs1051886	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1054376	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10747556	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10747557	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10747558	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10783289	0.89[ASN][1000 genomes]
rs10783290	0.86[ASN][1000 genomes]
rs10783292	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10783293	0.91[ASN][1000 genomes]
rs10783294	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10783295	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10783297	0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10875886	0.90[ASN][1000 genomes]
rs10875888	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10875893	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10875894	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10875895	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10875896	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10875897	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10875898	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10875899	0.83[ASN][1000 genomes]
rs10875900	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10875901	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10875902	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1111662	0.99[ASN][1000 genomes]
rs11168779	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11168783	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11168784	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11168785	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11168790	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11168792	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11168794	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11168797	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11168798	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11168800	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11168801	0.91[ASN][1000 genomes]
rs11168803	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11168811	0.86[ASN][1000 genomes]
rs11168812	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11608916	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11610459	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11610497	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11614474	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12227240	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12228521	0.85[AFR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12229275	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12423542	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12579249	0.91[ASN][1000 genomes]
rs1318692	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1690182	0.97[ASN][1000 genomes]
rs1818996	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1830192	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2030900	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2070940	0.97[ASN][1000 genomes]
rs2073480	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2131713	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2272311	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2272312	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2293449	0.92[ASN][1000 genomes]
rs2368701	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2453063	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2463175	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2641450	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2694839	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2694840	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3741627	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3759146	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3782353	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3809147	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3825182	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3825184	0.90[ASN][1000 genomes]
rs4018510	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4237854	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4433614	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4526804	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4760600	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4760647	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4760661	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4760662	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4760663	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4760664	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4760665	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4760666	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4760667	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4760668	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58023472	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59087236	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61941142	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61942166	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61942167	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61942169	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61942207	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61942209	0.87[ASN][1000 genomes]
rs6580696	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7297958	0.91[ASN][1000 genomes]
rs7298330	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7304942	0.91[ASN][1000 genomes]
rs7313988	0.98[ASN][1000 genomes]
rs7489036	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7963018	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7963160	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7976473	0.91[ASN][1000 genomes]
rs833820	0.96[ASN][1000 genomes]
rs833821	0.96[ASN][1000 genomes]
rs833822	0.98[ASN][1000 genomes]
rs833827	0.98[ASN][1000 genomes]
rs833828	0.96[ASN][1000 genomes]
rs833839	0.88[ASN][1000 genomes]
rs833840	0.88[ASN][1000 genomes]
rs833841	0.88[ASN][1000 genomes]
rs833842	0.88[ASN][1000 genomes]
rs833843	0.85[ASN][1000 genomes]
rs961320	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9645813	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9783452	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9783477	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9788029	0.92[ASN][1000 genomes]
rs9795742	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9796008	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[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	nsv832404	chr12:49258560-49458555	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv1051161	chr12:49314550-49828473	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
3	nsv541489	chr12:49314550-49828473	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11168795	RP11-302B13.1	cis	Whole Blood	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49314400-49338000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr12:49314400-49338600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:49319200-49349800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr12:49319400-49337800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr12:49319600-49331800	Weak transcription	Psoas Muscle	Psoas
6	chr12:49319600-49332800	Weak transcription	Small Intestine	intestine
7	chr12:49319600-49334600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr12:49319800-49328000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr12:49319800-49328800	Weak transcription	Fetal Heart	heart
10	chr12:49319800-49331400	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr12:49319800-49333200	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr12:49319800-49349400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr12:49320800-49329800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr12:49320800-49333400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr12:49320800-49333600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr12:49320800-49335800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr12:49320800-49336000	Strong transcription	A549	lung
18	chr12:49320800-49338600	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr12:49321000-49330200	Strong transcription	Cortex derived primary cultured neurospheres	brain
20	chr12:49321000-49332200	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr12:49321000-49333400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr12:49321000-49334200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr12:49321000-49335000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr12:49321000-49335600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
25	chr12:49321000-49335800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
26	chr12:49321000-49336400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr12:49321000-49336800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr12:49321000-49338200	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr12:49321200-49332200	Strong transcription	Muscle Satellite Cultured Cells	--
30	chr12:49321400-49328800	Weak transcription	Stomach Mucosa	stomach
31	chr12:49321400-49334200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr12:49321600-49334600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr12:49321800-49337800	Strong transcription	Fetal Intestine Small	intestine
34	chr12:49322800-49328200	Strong transcription	Rectal Mucosa Donor 31	rectum
35	chr12:49322800-49329200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr12:49322800-49335200	Strong transcription	H1 Cell Line	embryonic stem cell
37	chr12:49322800-49337600	Strong transcription	Primary neutrophils fromperipheralblood	blood
38	chr12:49322800-49338600	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr12:49323000-49329800	Strong transcription	Colon Smooth Muscle	Colon
40	chr12:49323000-49330000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr12:49323000-49330200	Strong transcription	H9 Cell Line	embryonic stem cell
42	chr12:49323000-49330400	Strong transcription	HSMM	muscle
43	chr12:49323000-49334600	Strong transcription	Fetal Muscle Leg	muscle
44	chr12:49323000-49335200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr12:49323000-49335400	Strong transcription	Lung	lung
46	chr12:49323000-49335800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr12:49323000-49335800	Strong transcription	Adipose Nuclei	Adipose
48	chr12:49323000-49335800	Strong transcription	Fetal Brain Female	brain
49	chr12:49323000-49336400	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr12:49323000-49337800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell

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