Variant report

Variant	rs12079314
Chromosome Location	chr1:212488465-212488466
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:212487148..212489947-chr1:212490208..212492615,2	K562	blood:
2	chr1:212486882..212489433-chr1:212500849..212503303,2	K562	blood:
3	chr1:212207316..212210086-chr1:212486077..212488983,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143493	Chromatin interaction
ENSG00000143476	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11119905	0.89[YRI][hapmap];0.82[AFR][1000 genomes]
rs11119911	0.91[AMR][1000 genomes]
rs11119912	0.91[AMR][1000 genomes]
rs11119914	0.82[AFR][1000 genomes]
rs11119915	0.81[AFR][1000 genomes]
rs11119917	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs12066102	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs12068496	1.00[YRI][hapmap]
rs12073991	0.92[YRI][hapmap]
rs12076639	0.82[AFR][1000 genomes]
rs12087727	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs12091941	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs17018922	0.91[AMR][1000 genomes]
rs17018933	0.92[YRI][hapmap];0.81[AFR][1000 genomes]
rs17042040	0.89[YRI][hapmap];0.80[AFR][1000 genomes]
rs59951444	0.89[AFR][1000 genomes]
rs6664170	0.85[YRI][hapmap]
rs6691835	0.81[YRI][hapmap]
rs6692384	0.82[AMR][1000 genomes]
rs67947916	0.82[AFR][1000 genomes]
rs73080566	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs7513268	0.85[YRI][hapmap];0.94[AFR][1000 genomes];0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999738	chr1:212218618-212513690	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1009376	chr1:212292357-212680320	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
4	nsv997629	chr1:212404489-212658785	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv535286	chr1:212404489-212658785	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	nsv873155	chr1:212449195-212502157	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
7	esv1806604	chr1:212468974-212505860	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212460200-212489200	Weak transcription	Spleen	Spleen
2	chr1:212464800-212506400	Weak transcription	Esophagus	oesophagus
3	chr1:212466200-212506400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr1:212466600-212503000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr1:212467400-212526000	Weak transcription	A549	lung
6	chr1:212474200-212502800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr1:212474600-212489200	Weak transcription	Gastric	stomach
8	chr1:212475600-212488600	Weak transcription	Fetal Heart	heart
9	chr1:212478200-212495800	Weak transcription	Fetal Thymus	thymus
10	chr1:212479200-212525400	Weak transcription	Aorta	Aorta
11	chr1:212479600-212489000	Weak transcription	Small Intestine	intestine
12	chr1:212479600-212489200	Weak transcription	Stomach Mucosa	stomach
13	chr1:212480600-212489400	Weak transcription	Rectal Smooth Muscle	rectum
14	chr1:212481600-212488600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr1:212482600-212488800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr1:212483400-212489400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr1:212483800-212489200	Weak transcription	Primary B cells from peripheral blood	blood
18	chr1:212484000-212503000	Weak transcription	Fetal Stomach	stomach
19	chr1:212484000-212506600	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr1:212484200-212488600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr1:212484200-212488600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr1:212484200-212489000	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr1:212484200-212489200	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr1:212484200-212493400	Weak transcription	K562	blood
25	chr1:212484200-212507000	Weak transcription	HepG2	liver
26	chr1:212484400-212488600	Weak transcription	Brain Substantia Nigra	brain
27	chr1:212484400-212488800	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr1:212484400-212488800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr1:212484400-212489000	Weak transcription	Liver	Liver
30	chr1:212484400-212489200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr1:212484400-212489200	Weak transcription	Brain Cingulate Gyrus	brain
32	chr1:212484400-212489200	Weak transcription	Brain Hippocampus Middle	brain
33	chr1:212484400-212489200	Weak transcription	Right Atrium	heart
34	chr1:212484400-212489400	Weak transcription	Fetal Intestine Large	intestine
35	chr1:212484400-212489600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr1:212484400-212489600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr1:212484400-212489600	Weak transcription	Duodenum Mucosa	Duodenum
38	chr1:212484400-212490400	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr1:212484400-212493400	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr1:212484400-212496200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr1:212484400-212502800	Weak transcription	Thymus	Thymus
42	chr1:212484400-212506800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr1:212484600-212489200	Weak transcription	Brain Angular Gyrus	brain
44	chr1:212484600-212489400	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr1:212484600-212490600	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr1:212484600-212492400	Weak transcription	Dnd41	blood
47	chr1:212484600-212507200	Weak transcription	Right Ventricle	heart
48	chr1:212484800-212489200	Weak transcription	Pancreas	Pancrea
49	chr1:212484800-212503000	Weak transcription	Fetal Intestine Small	intestine
50	chr1:212485800-212489000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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