Variant report

Variant	rs12034255
Chromosome Location	chr1:176125298-176125299
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:176119104..176121443-chr1:176123713..176126655,2	K562	blood:
2	chr1:176124657..176126215-chr1:176175102..176177140,2	K562	blood:

Variant related genes	Relation type
ENSG00000236021	Chromatin interaction
ENSG00000143207	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10218714	0.87[EUR][1000 genomes]
rs10753117	0.86[EUR][1000 genomes]
rs10753118	0.87[EUR][1000 genomes]
rs10798442	0.80[EUR][1000 genomes]
rs10798444	0.87[EUR][1000 genomes]
rs10798446	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10798447	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10913131	0.88[EUR][1000 genomes]
rs10913132	0.87[EUR][1000 genomes]
rs10913133	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10913134	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10913135	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10913137	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10913142	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10913143	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10913144	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10913145	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10913147	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10913148	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12033847	0.87[EUR][1000 genomes]
rs12033997	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12039741	0.84[EUR][1000 genomes]
rs12042918	0.84[EUR][1000 genomes]
rs12047295	0.82[EUR][1000 genomes]
rs12049077	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12404596	0.87[EUR][1000 genomes]
rs12409108	0.84[EUR][1000 genomes]
rs12735810	0.87[EUR][1000 genomes]
rs12755507	0.82[EUR][1000 genomes]
rs17354120	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2175177	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2861672	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34215167	0.82[EUR][1000 genomes]
rs34511428	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3748618	0.84[EUR][1000 genomes]
rs4526571	0.80[EUR][1000 genomes]
rs6673760	0.82[EUR][1000 genomes]
rs6678628	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6678812	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6684140	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7514517	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7517503	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7522843	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7534058	0.86[EUR][1000 genomes]
rs7534948	0.82[EUR][1000 genomes]
rs7553759	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[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	esv1823794	chr1:175869554-176311778	Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv872562	chr1:175949646-176141866	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv872563	chr1:175949646-176184625	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv548246	chr1:176043797-176136273	Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv872565	chr1:176058782-176172795	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:176054400-176131600	Weak transcription	NH-A	brain
2	chr1:176055000-176141600	Weak transcription	Hela-S3	cervix
3	chr1:176065600-176154800	Weak transcription	Aorta	Aorta
4	chr1:176069000-176139200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:176069200-176126600	Weak transcription	HMEC	breast
6	chr1:176069200-176138800	Weak transcription	HUVEC	blood vessel
7	chr1:176070400-176126400	Weak transcription	Brain Anterior Caudate	brain
8	chr1:176070400-176151400	Weak transcription	Pancreas	Pancrea
9	chr1:176072000-176140600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr1:176072800-176126600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr1:176076200-176126000	Weak transcription	Ovary	ovary
12	chr1:176076200-176127800	Weak transcription	Esophagus	oesophagus
13	chr1:176083000-176126000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr1:176085400-176142400	Weak transcription	Lung	lung
15	chr1:176085600-176126000	Weak transcription	Fetal Stomach	stomach
16	chr1:176085600-176128600	Weak transcription	Placenta	Placenta
17	chr1:176090800-176126600	Weak transcription	Fetal Brain Male	brain
18	chr1:176094800-176126200	Weak transcription	Fetal Brain Female	brain
19	chr1:176094800-176126400	Weak transcription	Fetal Muscle Leg	muscle
20	chr1:176095600-176130200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr1:176096000-176138800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr1:176100400-176126400	Weak transcription	Stomach Smooth Muscle	stomach
23	chr1:176100800-176153200	Weak transcription	Colonic Mucosa	Colon
24	chr1:176101400-176126600	Weak transcription	Brain Substantia Nigra	brain
25	chr1:176102800-176126400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr1:176102800-176130000	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr1:176102800-176130600	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr1:176103000-176125800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr1:176103200-176126600	Weak transcription	HSMMtube	muscle
30	chr1:176103400-176126200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr1:176103400-176127400	Weak transcription	Fetal Heart	heart
32	chr1:176106000-176126400	Weak transcription	Colon Smooth Muscle	Colon
33	chr1:176107600-176126600	Weak transcription	Brain Hippocampus Middle	brain
34	chr1:176108000-176126600	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr1:176108600-176129800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr1:176110600-176164000	Weak transcription	NHLF	lung
37	chr1:176111200-176126000	Weak transcription	Small Intestine	intestine
38	chr1:176111800-176126600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr1:176111800-176127400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr1:176111800-176139400	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr1:176113000-176126400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr1:176115200-176125600	Weak transcription	Fetal Lung	lung
43	chr1:176115200-176127200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr1:176115200-176127800	Weak transcription	Spleen	Spleen
45	chr1:176115800-176126400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr1:176115800-176129600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr1:176116000-176146200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr1:176116200-176126000	Weak transcription	Fetal Thymus	thymus
49	chr1:176117200-176125800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr1:176117200-176126000	Weak transcription	Primary T cells fromperipheralblood	blood

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