Variant report

Variant	rs12737029
Chromosome Location	chr1:224316205-224316206
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:224313532..224316324-chr1:224319519..224321918,2	K562	blood:
2	chr1:224312047..224314469-chr1:224314721..224316323,2	MCF-7	breast:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10916370	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11576702	0.91[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11582248	0.91[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11582460	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12410321	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12722938	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12731770	0.84[CEU][hapmap]
rs12736412	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12739782	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12749977	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16844823	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16856443	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2008340	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2087795	0.81[ASN][1000 genomes]
rs35177633	0.86[ASN][1000 genomes]
rs35243286	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35540939	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61826374	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61826409	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61827700	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6656849	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6657195	0.81[ASN][1000 genomes]
rs6687643	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs71644775	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs71644776	0.81[ASN][1000 genomes]
rs71644777	0.89[ASN][1000 genomes]
rs9662363	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[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	esv2757772	chr1:223935220-224363163	Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	esv2759000	chr1:223935220-224363163	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv427941	chr1:224085052-224363163	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv832692	chr1:224206536-224407717	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv873222	chr1:224292898-224335422	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224302800-224318200	Weak transcription	Fetal Muscle Trunk	muscle
2	chr1:224302800-224318200	Weak transcription	Left Ventricle	heart
3	chr1:224302800-224318200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr1:224302800-224318400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr1:224302800-224319600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:224302800-224319600	Weak transcription	Esophagus	oesophagus
7	chr1:224302800-224319600	Weak transcription	Lung	lung
8	chr1:224302800-224319600	Weak transcription	Small Intestine	intestine
9	chr1:224302800-224320200	Weak transcription	Pancreas	Pancrea
10	chr1:224302800-224327200	Weak transcription	Aorta	Aorta
11	chr1:224303000-224317800	Weak transcription	Ovary	ovary
12	chr1:224303000-224317800	Weak transcription	Thymus	Thymus
13	chr1:224303000-224318000	Weak transcription	Fetal Muscle Leg	muscle
14	chr1:224303000-224318200	Weak transcription	Colonic Mucosa	Colon
15	chr1:224303000-224329000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr1:224303000-224363400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr1:224303200-224317800	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr1:224303200-224318000	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr1:224303200-224318000	Weak transcription	HSMMtube	muscle
20	chr1:224303600-224318000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr1:224304000-224319600	Weak transcription	Fetal Stomach	stomach
22	chr1:224304200-224317800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr1:224304200-224318200	Weak transcription	Fetal Heart	heart
24	chr1:224304400-224318200	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr1:224304400-224318200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr1:224304400-224318200	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr1:224304400-224318200	Weak transcription	Rectal Smooth Muscle	rectum
28	chr1:224304400-224318200	Weak transcription	Stomach Smooth Muscle	stomach
29	chr1:224304400-224320000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr1:224304600-224318000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr1:224304600-224318000	Weak transcription	Brain Angular Gyrus	brain
32	chr1:224304600-224318000	Weak transcription	Brain Germinal Matrix	brain
33	chr1:224304600-224318000	Weak transcription	Duodenum Mucosa	Duodenum
34	chr1:224304600-224318000	Weak transcription	Fetal Lung	lung
35	chr1:224304600-224318200	Weak transcription	Adipose Nuclei	Adipose
36	chr1:224304600-224318800	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr1:224304800-224318400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr1:224306800-224317800	Weak transcription	Fetal Intestine Large	intestine
39	chr1:224307400-224318200	Weak transcription	HSMM	muscle
40	chr1:224307600-224318000	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr1:224307600-224318000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr1:224307600-224318000	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr1:224307800-224317600	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr1:224307800-224317600	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr1:224307800-224317800	Weak transcription	K562	blood
46	chr1:224307800-224318000	Weak transcription	Fetal Thymus	thymus
47	chr1:224308000-224317800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr1:224308000-224318000	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr1:224308000-224318200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr1:224308200-224317800	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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