Variant report

Variant	rs11534
Chromosome Location	chr12:49082419-49082420
allele	A/G
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:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:49079263..49083026-chr12:49101907..49104961,3	K562	blood:
2	chr12:49072887..49077758-chr12:49080125..49086735,20	MCF-7	breast:
3	chr12:49080816..49082790-chr12:49089685..49091197,2	K562	blood:
4	chr12:49081356..49082903-chr12:49083165..49085083,2	MCF-7	breast:
5	chr12:49081164..49084548-chr12:49085177..49089897,6	K562	blood:
6	chr12:49079263..49083026-chr12:49101684..49104961,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CCNT1-1	chr12:49082247-49086290	NONHSAT028017

No data

Variant related genes	Relation type
ENSG00000139620	Chromatin interaction
ENSG00000129315	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs11168603	1.00[EUR][1000 genomes]
rs11168610	1.00[EUR][1000 genomes]
rs11168626	1.00[EUR][1000 genomes]
rs11503892	1.00[EUR][1000 genomes]
rs11551273	1.00[EUR][1000 genomes]
rs11830117	1.00[EUR][1000 genomes]
rs11830164	1.00[EUR][1000 genomes]
rs11830884	1.00[EUR][1000 genomes]
rs11831374	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11832320	1.00[EUR][1000 genomes]
rs11833394	1.00[EUR][1000 genomes]
rs11833669	1.00[EUR][1000 genomes]
rs11835422	1.00[EUR][1000 genomes]
rs11837122	1.00[EUR][1000 genomes]
rs11837337	1.00[EUR][1000 genomes]
rs11837993	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11838121	1.00[EUR][1000 genomes]
rs11838289	1.00[EUR][1000 genomes]
rs11838360	1.00[EUR][1000 genomes]
rs12300165	1.00[EUR][1000 genomes]
rs12304826	1.00[EUR][1000 genomes]
rs12305150	1.00[EUR][1000 genomes]
rs12307016	1.00[EUR][1000 genomes]
rs17123267	1.00[EUR][1000 genomes]
rs17123398	1.00[EUR][1000 genomes]
rs34139009	1.00[EUR][1000 genomes]
rs36119652	1.00[EUR][1000 genomes]
rs55956587	1.00[EUR][1000 genomes]
rs56179964	1.00[EUR][1000 genomes]
rs57337154	1.00[EUR][1000 genomes]
rs57454425	1.00[EUR][1000 genomes]
rs57658152	1.00[EUR][1000 genomes]
rs59304927	1.00[EUR][1000 genomes]
rs59708884	1.00[EUR][1000 genomes]
rs60351852	1.00[EUR][1000 genomes]
rs71439468	1.00[EUR][1000 genomes]
rs7303057	1.00[EUR][1000 genomes]
rs7312311	1.00[EUR][1000 genomes]
rs7315319	1.00[EUR][1000 genomes]
rs74088131	1.00[EUR][1000 genomes]
rs74088137	1.00[EUR][1000 genomes]
rs74088163	1.00[EUR][1000 genomes]
rs74088167	1.00[EUR][1000 genomes]
rs74088185	1.00[EUR][1000 genomes]
rs74088186	1.00[EUR][1000 genomes]
rs74089357	1.00[EUR][1000 genomes]
rs74089364	1.00[EUR][1000 genomes]
rs7956989	1.00[EUR][1000 genomes]
rs7970421	1.00[EUR][1000 genomes]
rs7973146	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3332169	chr12:49005807-49150691	Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 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	chr12:49076000-49087000	Weak transcription	Stomach Mucosa	stomach
2	chr12:49076400-49083200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:49076600-49082600	Weak transcription	Brain Angular Gyrus	brain
4	chr12:49076600-49082600	Weak transcription	Brain Substantia Nigra	brain
5	chr12:49076600-49082800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr12:49076600-49083600	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr12:49076600-49083800	Weak transcription	Lung	lung
8	chr12:49076600-49084200	Weak transcription	Fetal Muscle Leg	muscle
9	chr12:49076600-49084200	Weak transcription	Psoas Muscle	Psoas
10	chr12:49076600-49084200	Weak transcription	Rectal Smooth Muscle	rectum
11	chr12:49076600-49084200	Weak transcription	Small Intestine	intestine
12	chr12:49076600-49084200	Weak transcription	NHLF	lung
13	chr12:49076600-49084800	Weak transcription	Colonic Mucosa	Colon
14	chr12:49076600-49085600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr12:49076600-49086400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:49076600-49086400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr12:49076600-49086400	Weak transcription	Brain Cingulate Gyrus	brain
18	chr12:49076600-49086400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr12:49076600-49086600	Weak transcription	Fetal Kidney	kidney
20	chr12:49076600-49086800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr12:49076600-49086800	Weak transcription	Aorta	Aorta
22	chr12:49076600-49086800	Weak transcription	Esophagus	oesophagus
23	chr12:49076600-49086800	Weak transcription	Gastric	stomach
24	chr12:49076600-49086800	Weak transcription	Ovary	ovary
25	chr12:49076600-49086800	Weak transcription	Pancreas	Pancrea
26	chr12:49076600-49086800	Weak transcription	Spleen	Spleen
27	chr12:49076600-49096400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr12:49076600-49109000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr12:49076800-49082600	Weak transcription	Fetal Muscle Trunk	muscle
30	chr12:49076800-49082600	Weak transcription	Fetal Thymus	thymus
31	chr12:49076800-49082600	Weak transcription	HSMMtube	muscle
32	chr12:49076800-49082800	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr12:49076800-49082800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr12:49076800-49082800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr12:49076800-49083600	Weak transcription	Fetal Brain Female	brain
36	chr12:49076800-49083800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr12:49076800-49083800	Weak transcription	Fetal Intestine Large	intestine
38	chr12:49076800-49084000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr12:49076800-49084200	Weak transcription	Colon Smooth Muscle	Colon
40	chr12:49076800-49084400	Weak transcription	Stomach Smooth Muscle	stomach
41	chr12:49076800-49085400	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr12:49076800-49085800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr12:49076800-49085800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr12:49076800-49086800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr12:49076800-49086800	Weak transcription	Fetal Intestine Small	intestine
46	chr12:49077000-49082600	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr12:49077000-49082800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr12:49077000-49083000	Weak transcription	HUVEC	blood vessel
49	chr12:49077000-49083000	Weak transcription	NHEK	skin
50	chr12:49077000-49084200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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