Variant report

Variant	rs2227640
Chromosome Location	chr7:100771059-100771060
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:100770444..100773305-chr7:100773792..100776884,4	K562	blood:
2	chr7:100737172..100740018-chr7:100770691..100773397,2	K562	blood:
3	chr7:100770587..100772277-chr7:100782304..100783957,2	MCF-7	breast:
4	chr7:100770619..100772251-chr7:100806261..100808201,2	MCF-7	breast:
5	chr11:65657816..65658642-chr7:100770309..100771180,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000260336	Chromatin interaction
ENSG00000175602	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs17135252	0.88[AFR][1000 genomes]
rs2227695	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61206375	0.88[AFR][1000 genomes]
rs73402867	1.00[AMR][1000 genomes]
rs73402901	1.00[AMR][1000 genomes]
rs73404838	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031942	chr7:100606734-100788660	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	esv1833777	chr7:100632790-100800131	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1033081	chr7:100669629-100771824	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv831075	chr7:100692297-100917018	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
5	nsv933653	chr7:100701931-101515782	Active TSS ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
6	nsv1030604	chr7:100717732-101223465	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
7	nsv464649	chr7:100739682-100810983	Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
8	nsv607972	chr7:100739682-100810983	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
9	esv2422376	chr7:100743485-101016471	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
10	nsv1018841	chr7:100760410-100868299	Flanking Active TSS Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100768800-100771800	Enhancers	Esophagus	oesophagus
2	chr7:100769200-100771400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr7:100769400-100771400	Enhancers	Primary B cells from cord blood	blood
4	chr7:100769400-100771600	Enhancers	Placenta Amnion	Placenta Amnion
5	chr7:100769400-100771800	Enhancers	Fetal Heart	heart
6	chr7:100769400-100772000	Enhancers	Spleen	Spleen
7	chr7:100769600-100772000	Enhancers	H1 Cell Line	embryonic stem cell
8	chr7:100769800-100771400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr7:100770000-100771800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr7:100770000-100771800	Weak transcription	Small Intestine	intestine
11	chr7:100770200-100771200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr7:100770200-100771200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
13	chr7:100770200-100771200	Active TSS	A549	lung
14	chr7:100770200-100771200	Active TSS	HUVEC	blood vessel
15	chr7:100770200-100771200	Active TSS	Osteobl	bone
16	chr7:100770200-100771400	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr7:100770200-100771400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr7:100770200-100771400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr7:100770200-100771400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr7:100770200-100771400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr7:100770200-100771400	Active TSS	NH-A	brain
22	chr7:100770200-100771400	Active TSS	NHDF-Ad	bronchial
23	chr7:100770200-100771400	Active TSS	NHLF	lung
24	chr7:100770200-100771600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr7:100770200-100771600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr7:100770200-100771600	Active TSS	HSMM	muscle
27	chr7:100770200-100771600	Active TSS	HSMMtube	muscle
28	chr7:100770400-100771200	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr7:100770400-100771200	Active TSS	NHEK	skin
30	chr7:100770400-100771400	Active TSS	iPS-20b Cell Line	embryonic stem cell
31	chr7:100770400-100771400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr7:100770400-100771400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr7:100770400-100771600	Active TSS	Aorta	Aorta
34	chr7:100770400-100771600	Bivalent/Poised TSS	Psoas Muscle	Psoas
35	chr7:100770400-100771800	Flanking Active TSS	Placenta	Placenta
36	chr7:100770400-100781600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr7:100770600-100771200	Active TSS	HMEC	breast
38	chr7:100770600-100771400	Enhancers	Thymus	Thymus
39	chr7:100770600-100771600	Active TSS	Lung	lung
40	chr7:100770600-100771600	Enhancers	GM12878-XiMat	blood
41	chr7:100770600-100772800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr7:100770600-100774400	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr7:100770600-100774400	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
44	chr7:100770600-100780800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr7:100770800-100771200	Active TSS	HepG2	liver
46	chr7:100770800-100771400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr7:100770800-100771400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr7:100770800-100771400	Active TSS	HUES64 Cell Line	embryonic stem cell
49	chr7:100770800-100771400	Enhancers	Adipose Nuclei	Adipose
50	chr7:100770800-100771400	Enhancers	Fetal Muscle Leg	muscle

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