Variant report

Variant	rs12175251
Chromosome Location	chr6:49459791-49459792
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:49458471..49460387-chr6:49460980..49463015,2	K562	blood:
2	chr6:49429806..49431359-chr6:49457434..49460019,2	K562	blood:
3	chr6:49431721..49433516-chr6:49458650..49460317,2	K562	blood:

Variant related genes	Relation type
ENSG00000146085	Chromatin interaction
ENSG00000031691	Chromatin interaction

Extended variants
information (count: 84 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10948498	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11757098	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12173703	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13193063	0.92[ASN][1000 genomes]
rs13202158	0.92[ASN][1000 genomes]
rs13215471	0.92[ASN][1000 genomes]
rs16879241	0.82[EUR][1000 genomes]
rs17805348	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1924982	0.82[EUR][1000 genomes]
rs28841337	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4562127	0.92[ASN][1000 genomes]
rs471220	0.82[EUR][1000 genomes]
rs471316	0.81[EUR][1000 genomes]
rs471332	0.82[EUR][1000 genomes]
rs475757	0.82[EUR][1000 genomes]
rs478550	0.82[EUR][1000 genomes]
rs481270	0.82[EUR][1000 genomes]
rs482582	0.81[EUR][1000 genomes]
rs483192	0.82[EUR][1000 genomes]
rs484942	0.82[EUR][1000 genomes]
rs485383	0.82[EUR][1000 genomes]
rs485474	0.82[EUR][1000 genomes]
rs485772	0.82[EUR][1000 genomes]
rs485976	0.82[EUR][1000 genomes]
rs495303	0.82[EUR][1000 genomes]
rs496864	0.82[EUR][1000 genomes]
rs498825	0.82[EUR][1000 genomes]
rs501835	0.82[EUR][1000 genomes]
rs503680	0.82[EUR][1000 genomes]
rs512497	0.82[EUR][1000 genomes]
rs520470	0.82[EUR][1000 genomes]
rs520599	0.82[EUR][1000 genomes]
rs529464	0.81[EUR][1000 genomes]
rs530156	0.81[EUR][1000 genomes]
rs530458	0.82[EUR][1000 genomes]
rs532017	0.82[EUR][1000 genomes]
rs532785	0.82[EUR][1000 genomes]
rs537190	0.82[EUR][1000 genomes]
rs538016	0.82[EUR][1000 genomes]
rs539026	0.82[EUR][1000 genomes]
rs540164	0.82[EUR][1000 genomes]
rs543805	0.80[EUR][1000 genomes]
rs545472	0.82[EUR][1000 genomes]
rs547757	0.82[EUR][1000 genomes]
rs548644	0.82[EUR][1000 genomes]
rs549464	0.82[EUR][1000 genomes]
rs553437	0.82[EUR][1000 genomes]
rs555134	0.80[EUR][1000 genomes]
rs556711	0.82[EUR][1000 genomes]
rs556807	0.82[EUR][1000 genomes]
rs562369	0.82[EUR][1000 genomes]
rs564042	0.82[EUR][1000 genomes]
rs568369	0.82[EUR][1000 genomes]
rs568563	0.82[EUR][1000 genomes]
rs569142	0.82[EUR][1000 genomes]
rs575461	0.82[EUR][1000 genomes]
rs577530	0.82[EUR][1000 genomes]
rs6902604	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6902615	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6903158	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6922862	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6923065	0.91[EUR][1000 genomes]
rs6927463	0.83[EUR][1000 genomes]
rs6933253	0.82[ASN][1000 genomes]
rs72869253	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72870365	0.82[EUR][1000 genomes]
rs9349492	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9349493	0.92[ASN][1000 genomes]
rs9357610	0.82[EUR][1000 genomes]
rs9367355	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9369886	0.82[EUR][1000 genomes]
rs9369902	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9369905	0.82[ASN][1000 genomes]
rs9381767	0.82[EUR][1000 genomes]
rs9381793	0.82[ASN][1000 genomes]
rs9381794	0.82[ASN][1000 genomes]
rs9395477	0.81[EUR][1000 genomes]
rs9395496	0.92[ASN][1000 genomes]
rs9395501	0.82[ASN][1000 genomes]
rs9395502	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024959	chr6:49290141-49652124	Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1021136	chr6:49295037-49631278	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv1019611	chr6:49431569-49470663	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
4	nsv885881	chr6:49439805-49575141	Weak transcription Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12175251	MUT	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:49431800-49461200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr6:49431800-49462000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr6:49432000-49462000	Weak transcription	Brain Angular Gyrus	brain
4	chr6:49432000-49463000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr6:49432200-49461600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr6:49432200-49462400	Weak transcription	Fetal Lung	lung
7	chr6:49432200-49462800	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr6:49432200-49463800	Weak transcription	Stomach Smooth Muscle	stomach
9	chr6:49432200-49465000	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr6:49432600-49460600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr6:49432600-49472000	Weak transcription	NHEK	skin
12	chr6:49433200-49461200	Weak transcription	NHDF-Ad	bronchial
13	chr6:49440400-49460000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr6:49440400-49465200	Weak transcription	HUVEC	blood vessel
15	chr6:49441000-49464200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr6:49441200-49461800	Weak transcription	A549	lung
17	chr6:49446000-49460200	Weak transcription	Stomach Mucosa	stomach
18	chr6:49446800-49461800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr6:49447800-49460400	Weak transcription	Right Ventricle	heart
20	chr6:49448000-49459800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr6:49448400-49464600	Weak transcription	Gastric	stomach
22	chr6:49448600-49460400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr6:49449400-49460200	Weak transcription	Brain Cingulate Gyrus	brain
24	chr6:49449800-49463000	Weak transcription	Lung	lung
25	chr6:49449800-49465000	Weak transcription	Fetal Muscle Leg	muscle
26	chr6:49450400-49461400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr6:49450400-49464200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr6:49450600-49462600	Weak transcription	Thymus	Thymus
29	chr6:49450600-49464000	Weak transcription	Spleen	Spleen
30	chr6:49451000-49461800	Weak transcription	Colon Smooth Muscle	Colon
31	chr6:49451400-49467400	Weak transcription	Fetal Intestine Small	intestine
32	chr6:49451600-49464000	Weak transcription	Fetal Stomach	stomach
33	chr6:49453800-49462000	Strong transcription	Dnd41	blood
34	chr6:49454000-49465200	Weak transcription	Fetal Brain Male	brain
35	chr6:49454800-49463400	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr6:49455000-49462200	Weak transcription	Psoas Muscle	Psoas
37	chr6:49455200-49460000	Weak transcription	Osteobl	bone
38	chr6:49455200-49460400	Strong transcription	Primary T cells from cord blood	blood
39	chr6:49455200-49461600	Strong transcription	Primary B cells from peripheral blood	blood
40	chr6:49455200-49463600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr6:49455400-49461400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr6:49455600-49460600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr6:49455600-49461800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr6:49455600-49461800	Strong transcription	HUES6 Cell Line	embryonic stem cell
45	chr6:49455600-49461800	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr6:49455600-49462200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
47	chr6:49455800-49462000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr6:49456000-49461600	Strong transcription	HUES48 Cell Line	embryonic stem cell
49	chr6:49456200-49460600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr6:49456200-49461400	Strong transcription	iPS-18 Cell Line	embryonic stem cell

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