Variant report

Variant	rs946217
Chromosome Location	chr1:113687149-113687150
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:113680385..113687065-chr1:113687067..113690757,6	K562	blood:
2	chr1:113683011..113687065-chr1:113687072..113690657,5	K562	blood:
3	chr1:113686049..113694370-chr1:113929775..113935752,18	MCF-7	breast:

Variant related genes	Relation type
ENSG00000081026	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11102593	1.00[AMR][1000 genomes]
rs11102594	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1216777	1.00[AMR][1000 genomes]
rs1216788	0.83[YRI][hapmap]
rs1216789	0.84[YRI][hapmap]
rs1216794	0.91[AFR][1000 genomes]
rs1216795	1.00[ASW][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs1216799	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1216806	0.91[AFR][1000 genomes]
rs1216809	1.00[ASW][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs1216811	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs1216891	1.00[AMR][1000 genomes]
rs1216902	1.00[AMR][1000 genomes]
rs1632505	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17030813	0.82[ASW][hapmap]
rs17030860	1.00[AMR][1000 genomes]
rs1728231	1.00[AMR][1000 genomes]
rs1766861	0.83[ASW][hapmap];0.91[YRI][hapmap]
rs4839289	0.95[AFR][1000 genomes]
rs6674506	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7555465	1.00[ASW][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002971	chr1:112924725-113740584	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
2	nsv535059	chr1:112924725-113740584	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
3	nsv1010276	chr1:113123932-113740584	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
4	nsv1012119	chr1:113214869-113759081	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
5	nsv535060	chr1:113214869-113759081	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
6	nsv529238	chr1:113229946-113759080	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
7	esv18293	chr1:113375437-113852815	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
8	nsv1007045	chr1:113425222-113839910	Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer 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	59 gene(s)	inside rSNPs	diseases
9	nsv427719	chr1:113570229-114078388	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113669600-113689400	Weak transcription	Thymus	Thymus
2	chr1:113669800-113690000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:113682800-113687400	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr1:113683800-113689000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr1:113683800-113689200	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr1:113683800-113689800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:113684000-113688400	Weak transcription	Fetal Kidney	kidney
8	chr1:113684000-113688800	Weak transcription	Placenta	Placenta
9	chr1:113684000-113688800	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr1:113684000-113689000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr1:113684000-113689800	Weak transcription	Lung	lung
12	chr1:113684200-113689800	Weak transcription	Small Intestine	intestine
13	chr1:113684400-113688800	Weak transcription	Colonic Mucosa	Colon
14	chr1:113684400-113688800	Weak transcription	Fetal Thymus	thymus
15	chr1:113684400-113689200	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr1:113684400-113692800	Weak transcription	GM12878-XiMat	blood
17	chr1:113684600-113688400	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr1:113684600-113689200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr1:113684800-113688200	Weak transcription	HepG2	liver
20	chr1:113684800-113689200	Weak transcription	Duodenum Mucosa	Duodenum
21	chr1:113685000-113688400	Weak transcription	Fetal Intestine Small	intestine
22	chr1:113685200-113688400	Weak transcription	Fetal Intestine Large	intestine
23	chr1:113685400-113689000	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr1:113685400-113691600	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr1:113685600-113688400	Weak transcription	A549	lung
26	chr1:113685600-113688600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr1:113685600-113689400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr1:113685600-113689800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr1:113685600-113690000	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr1:113685600-113690200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr1:113685600-113691600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr1:113685800-113689000	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr1:113685800-113689000	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr1:113685800-113689000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr1:113685800-113689200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr1:113685800-113689400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr1:113685800-113689400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr1:113686000-113688200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr1:113686000-113688400	Weak transcription	Dnd41	blood
40	chr1:113686000-113688800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr1:113686000-113689000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr1:113686000-113689000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr1:113686000-113689200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr1:113686000-113689200	Weak transcription	NH-A	brain
45	chr1:113686200-113688800	Weak transcription	HUVEC	blood vessel
46	chr1:113686200-113688800	Weak transcription	K562	blood
47	chr1:113686200-113689200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr1:113686200-113695600	Weak transcription	Stomach Mucosa	stomach
49	chr1:113686400-113688400	Weak transcription	Primary T cells from cord blood	blood
50	chr1:113687000-113687400	Enhancers	Skeletal Muscle Female	skeletal muscle

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