Variant report

Variant	rs2437100
Chromosome Location	chr7:100465824-100465825
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr7:100465760-100465910	HBMEC	blood vessel:	n/a	n/a
2	MAZ	chr7:100465670-100465829	K562	blood:	n/a	n/a
3	POLR2A	chr7:100463239-100465982	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr7:100465639-100465898	MCF-7	breast:	n/a	n/a
5	MAX	chr7:100462763-100466194	HCT-116	colon:	n/a	chr7:100465338-100465348 chr7:100464740-100464747 chr7:100464920-100464931 chr7:100464921-100464930 chr7:100464916-100464935 chr7:100464730-100464746 chr7:100464666-100464676 chr7:100464919-100464932 chr7:100464739-100464748 chr7:100464921-100464930
6	HMGN3	chr7:100465746-100465824	K562	blood:	n/a	n/a
7	POLR2A	chr7:100465257-100466093	K562	blood:	n/a	n/a
8	MYC	chr7:100465639-100465988	H1-hESC	embryonic stem cell:	n/a	n/a
9	E2F6	chr7:100465638-100466260	K562	blood:	n/a	n/a
10	CHD2	chr7:100465770-100466042	K562	blood:	n/a	n/a
11	SIN3A	chr7:100464627-100466064	H1-hESC	embryonic stem cell:	n/a	chr7:100464920-100464929 chr7:100464922-100464931
12	POLR2A	chr7:100465510-100466170	GM12891	blood:	n/a	n/a
13	JUND	chr7:100465747-100465889	K562	blood:	n/a	n/a
14	POLR2A	chr7:100464647-100465977	GM12892	blood:	n/a	n/a
15	SMARCB1	chr7:100463207-100466210	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr7:100464459-100466327	K562	blood:	n/a	n/a
17	POLR2A	chr7:100465555-100466229	H1-hESC	embryonic stem cell:	n/a	n/a
18	YY1	chr7:100465712-100466386	K562	blood:	n/a	n/a
19	ZBTB7A	chr7:100465650-100465986	K562	blood:	n/a	n/a
20	POLR2A	chr7:100463164-100466642	HL-60	blood:	n/a	n/a
21	POLR2A	chr7:100465624-100466013	ProgFib	skin:	n/a	n/a
22	MYC	chr7:100465801-100466091	MCF10A-Er-Src	breast:	n/a	n/a
23	HEY1	chr7:100464573-100466263	K562	blood:	n/a	chr7:100464949-100464958 chr7:100464947-100464956
24	POLR2A	chr7:100464560-100465931	GM18505	blood:	n/a	n/a
25	CHD1	chr7:100464240-100466322	IMR90	lung:	n/a	n/a
26	TAF1	chr7:100465675-100465896	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr7:100465515-100466129	H1-hESC	embryonic stem cell:	n/a	n/a
28	SIN3AK20	chr7:100465584-100466264	K562	blood:	n/a	n/a
29	POLR2A	chr7:100464097-100466221	GM12878	blood:	n/a	n/a
30	POLR2A	chr7:100465647-100466215	Hela-S3	cervix:	n/a	n/a
31	RUNX3	chr7:100465775-100466130	GM12878	blood:	n/a	n/a
32	YY1	chr7:100465623-100466308	K562	blood:	n/a	n/a
33	UBTF	chr7:100464687-100466303	K562	blood:	n/a	n/a
34	POLR2A	chr7:100465538-100466139	GM12878	blood:	n/a	n/a
35	MXI1	chr7:100465723-100465947	H1-hESC	embryonic stem cell:	n/a	n/a
36	JUN	chr7:100464020-100466277	K562	blood:	n/a	chr7:100464883-100464893 chr7:100464944-100464957 chr7:100464882-100464893 chr7:100464948-100464957
37	MYC	chr7:100465623-100466188	K562	blood:	n/a	n/a
38	POLR2A	chr7:100465544-100465998	ECC-1	luminal epithelium:	n/a	n/a
39	POLR2A	chr7:100464128-100466063	GM12891	blood:	n/a	n/a
40	POLR2A	chr7:100463396-100466627	U87	brain:	n/a	n/a
41	EP300	chr7:100465719-100465957	K562	blood:	n/a	n/a
42	TAF1	chr7:100465555-100465983	H1-hESC	embryonic stem cell:	n/a	n/a
43	THAP1	chr7:100465808-100466196	K562	blood:	n/a	n/a
44	HCFC1	chr7:100465686-100465881	K562	blood:	n/a	n/a
45	POLR2A	chr7:100465516-100465862	GM12892	blood:	n/a	n/a
46	POLR2A	chr7:100465585-100466307	GM12892	blood:	n/a	n/a
47	POLR2A	chr7:100465552-100466141	GM12878	blood:	n/a	n/a
48	MAZ	chr7:100465754-100465947	Hela-S3	cervix:	n/a	n/a
49	JUND	chr7:100465649-100465830	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr7:100465597-100465948	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:100448977..100453392-chr7:100463620..100466806,5	K562	blood:
2	chr7:100448636..100452358-chr7:100462094..100466806,6	K562	blood:
3	chr7:100270217..100272304-chr7:100463855..100466313,2	MCF-7	breast:
4	chr2:181845181..181847277-chr7:100464247..100466142,2	MCF-7	breast:
5	chr7:100423752..100426266-chr7:100463292..100466439,3	MCF-7	breast:
6	chr7:100025401..100028370-chr7:100464359..100466273,3	K562	blood:
7	chr7:100270953..100272830-chr7:100463570..100466328,2	K562	blood:
8	chr7:100033419..100035678-chr7:100463885..100466048,2	MCF-7	breast:

Variant related genes	Relation type
TRIP6	TF binding region
ENSG00000170035	Chromatin interaction
ENSG00000172354	Chromatin interaction
ENSG00000146834	Chromatin interaction
ENSG00000146828	Chromatin interaction
ENSG00000160813	Chromatin interaction
ENSG00000240211	Chromatin interaction
ENSG00000078487	Chromatin interaction
ENSG00000236305	Chromatin interaction
ENSG00000196411	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2571600	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs2571601	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1829095	chr7:99814675-100494084	Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	393 gene(s)	inside rSNPs	diseases
2	nsv1020837	chr7:100313122-100508635	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	esv1832517	chr7:100355490-100749246	Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
4	esv2758125	chr7:100355490-100749246	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
5	esv2759547	chr7:100355490-100749246	Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
6	nsv464647	chr7:100374087-100497131	Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
7	nsv607965	chr7:100374087-100497131	Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
8	nsv1032673	chr7:100382250-100606794	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
9	nsv888797	chr7:100386900-100482026	Bivalent/Poised TSS Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
10	nsv888798	chr7:100406144-100472826	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh 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	71 gene(s)	inside rSNPs	diseases
11	nsv888799	chr7:100406144-100497131	Enhancers Bivalent Enhancer Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh 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	89 gene(s)	inside rSNPs	diseases
12	nsv888801	chr7:100416250-100497131	Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
13	nsv464648	chr7:100422156-100518458	Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
14	nsv607966	chr7:100422156-100518458	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
15	nsv831073	chr7:100425659-100544888	Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 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	chr7:100461800-100471400	Weak transcription	HepG2	liver
2	chr7:100463600-100466000	Flanking Active TSS	Fetal Muscle Leg	muscle
3	chr7:100463600-100466400	Flanking Active TSS	Brain Hippocampus Middle	brain
4	chr7:100463600-100466400	Active TSS	Psoas Muscle	Psoas
5	chr7:100463600-100466600	Flanking Active TSS	Stomach Smooth Muscle	stomach
6	chr7:100464000-100466200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr7:100464000-100466400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
8	chr7:100464000-100466600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr7:100464000-100466600	Flanking Active TSS	Adipose Nuclei	Adipose
10	chr7:100464200-100466200	Flanking Active TSS	Placenta	Placenta
11	chr7:100464200-100466200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
12	chr7:100464400-100466400	Flanking Active TSS	Fetal Thymus	thymus
13	chr7:100464400-100466600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
14	chr7:100464600-100466000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr7:100464600-100466000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr7:100464600-100466000	Active TSS	iPS-18 Cell Line	embryonic stem cell
17	chr7:100464600-100466200	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr7:100464600-100466200	Flanking Active TSS	Primary hematopoietic stem cells	blood
19	chr7:100464600-100466400	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr7:100464600-100466400	Active TSS	H9 Cell Line	embryonic stem cell
21	chr7:100464600-100466400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr7:100464600-100466400	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr7:100464600-100466400	Active TSS	Ovary	ovary
24	chr7:100464600-100466600	Active TSS	Esophagus	oesophagus
25	chr7:100464600-100466800	Active TSS	iPS-15b Cell Line	embryonic stem cell
26	chr7:100464800-100466000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr7:100464800-100466000	Active TSS	Colon Smooth Muscle	Colon
28	chr7:100464800-100466000	Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr7:100464800-100466000	Active TSS	Fetal Intestine Large	intestine
30	chr7:100464800-100466000	Active TSS	Fetal Intestine Small	intestine
31	chr7:100464800-100466000	Active TSS	Rectal Mucosa Donor 31	rectum
32	chr7:100464800-100466000	Active TSS	A549	lung
33	chr7:100464800-100466000	Active TSS	NHEK	skin
34	chr7:100464800-100466200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr7:100464800-100466200	Active TSS	iPS-20b Cell Line	embryonic stem cell
36	chr7:100464800-100466200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr7:100464800-100466200	Active TSS	Fetal Kidney	kidney
38	chr7:100464800-100466200	Active TSS	HMEC	breast
39	chr7:100464800-100466200	Active TSS	Osteobl	bone
40	chr7:100464800-100466400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr7:100464800-100466400	Active TSS	Lung	lung
42	chr7:100464800-100467000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr7:100464800-100467000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr7:100464800-100467000	Active TSS	HSMM	muscle
45	chr7:100464800-100467200	Active TSS	NHDF-Ad	bronchial
46	chr7:100465000-100466000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
47	chr7:100465000-100466000	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr7:100465000-100466000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr7:100465000-100466000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
50	chr7:100465000-100466200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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