Variant report

Variant	rs73285295
Chromosome Location	chr7:26416959-26416960
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	TAF1	chr7:26416573-26416963	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr7:26415555-26417484	SK-N-SH	brain:	n/a	chr7:26416803-26416824 chr7:26416801-26416819 chr7:26416618-26416627 chr7:26416802-26416818
3	SMC3	chr7:26416642-26416996	K562	blood:	n/a	chr7:26416803-26416817
4	CTCF	chr7:26416625-26416993	K562	blood:	n/a	chr7:26416803-26416824 chr7:26416801-26416819 chr7:26416802-26416818
5	ZNF217	chr7:26416702-26416991	MCF-7	breast:	n/a	n/a
6	RAD21	chr7:26415294-26417375	SK-N-SH	brain:	n/a	chr7:26416802-26416821 chr7:26416842-26416855
7	MAX	chr7:26416589-26417039	A549	lung:	n/a	n/a
8	RAD21	chr7:26416527-26417128	HCT-116	colon:	n/a	chr7:26416802-26416821 chr7:26416842-26416855
9	POLR2A	chr7:26415204-26417187	H1-neurons	neurons:	n/a	n/a
10	HA-E2F1	chr7:26415441-26417194	MCF-7	breast:	n/a	n/a
11	RAD21	chr7:26416638-26417053	GM12878	blood:	n/a	chr7:26416802-26416821 chr7:26416842-26416855
12	RAD21	chr7:26416539-26417065	H1-hESC	embryonic stem cell:	n/a	chr7:26416802-26416821 chr7:26416842-26416855
13	CTCF	chr7:26416654-26416975	MCF-7	breast:	n/a	chr7:26416803-26416824 chr7:26416801-26416819 chr7:26416802-26416818
14	RAD21	chr7:26416683-26417004	K562	blood:	n/a	chr7:26416802-26416821 chr7:26416842-26416855
15	RAD21	chr7:26416481-26417120	HCT-116	colon:	n/a	chr7:26416802-26416821 chr7:26416842-26416855
16	CTCF	chr7:26416526-26417055	K562	blood:	n/a	chr7:26416803-26416824 chr7:26416801-26416819 chr7:26416618-26416627 chr7:26416802-26416818
17	ATF2	chr7:26416640-26417031	H1-hESC	embryonic stem cell:	n/a	n/a
18	FOXM1	chr7:26416552-26417047	GM12878	blood:	n/a	n/a
19	CREB1	chr7:26416636-26416971	A549	lung:	n/a	n/a
20	ZNF143	chr7:26416580-26417004	H1-hESC	embryonic stem cell:	n/a	chr7:26416810-26416820
21	YY1	chr7:26416653-26416999	GM12892	blood:	n/a	n/a
22	RAD21	chr7:26416453-26417249	MCF-7	breast:	n/a	chr7:26416802-26416821 chr7:26416842-26416855
23	CTCF	chr7:26416681-26416984	ECC-1	luminal epithelium:	n/a	chr7:26416803-26416824 chr7:26416801-26416819 chr7:26416802-26416818
24	PML	chr7:26416496-26417084	GM12878	blood:	n/a	n/a
25	CHD1	chr7:26416836-26417004	GM12878	blood:	n/a	n/a
26	JUND	chr7:26416641-26416991	H1-hESC	embryonic stem cell:	n/a	n/a
27	ZBTB7A	chr7:26415733-26417051	ECC-1	luminal epithelium:	n/a	chr7:26416809-26416818
28	ELF1	chr7:26416391-26417036	MCF-7	breast:	n/a	chr7:26416815-26416824
29	CTCF	chr7:26416610-26416967	GM12891	blood:	n/a	chr7:26416803-26416824 chr7:26416801-26416819 chr7:26416618-26416627 chr7:26416802-26416818
30	CTCF	chr7:26416487-26417136	MCF-7	breast:	n/a	chr7:26416803-26416824 chr7:26416801-26416819 chr7:26416618-26416627 chr7:26416802-26416818
31	CTCF	chr7:26416500-26416992	Spleen_OC	spleen:	n/a	chr7:26416803-26416824 chr7:26416801-26416819 chr7:26416618-26416627 chr7:26416802-26416818
32	CTCF	chr7:26416900-26417050	Hela-S3	cervix:	n/a	n/a
33	BHLHE40	chr7:26416710-26416986	GM12878	blood:	n/a	n/a
34	RAD21	chr7:26416641-26417029	HepG2	liver:	n/a	chr7:26416802-26416821 chr7:26416842-26416855
35	CTCF	chr7:26416679-26416965	ProgFib	skin:	n/a	chr7:26416803-26416824 chr7:26416801-26416819 chr7:26416802-26416818
36	CTCF	chr7:26416461-26416990	GM19238	blood:	n/a	chr7:26416803-26416824 chr7:26416801-26416819 chr7:26416618-26416627 chr7:26416802-26416818
37	RAD21	chr7:26416403-26417160	H1-hESC	embryonic stem cell:	n/a	chr7:26416802-26416821 chr7:26416842-26416855
38	POLR2A	chr7:26416079-26416974	HUVEC	blood vessel:	n/a	n/a
39	CTCF	chr7:26416860-26417010	WI-38	lung:	n/a	n/a
40	TCF12	chr7:26416455-26417049	ECC-1	luminal epithelium:	n/a	n/a
41	ELF1	chr7:26416574-26416980	GM12878	blood:	n/a	chr7:26416815-26416824
42	MAX	chr7:26415606-26417060	MCF-7	breast:	n/a	chr7:26415950-26415959 chr7:26415928-26415937
43	CTCF	chr7:26416674-26416961	GM12878	blood:	n/a	chr7:26416803-26416824 chr7:26416801-26416819 chr7:26416802-26416818
44	POLR2A	chr7:26415176-26417257	H1-neurons	neurons:	n/a	n/a
45	CTCF	chr7:26416600-26416982	K562	blood:	n/a	chr7:26416803-26416824 chr7:26416801-26416819 chr7:26416618-26416627 chr7:26416802-26416818
46	CTCF	chr7:26416617-26417012	IMR90	lung:	n/a	chr7:26416803-26416824 chr7:26416801-26416819 chr7:26416618-26416627 chr7:26416802-26416818
47	STAT5A	chr7:26416045-26417169	GM12878	blood:	n/a	n/a
48	CTCF	chr7:26416840-26416990	BE2_C	brain:	n/a	n/a
49	ZNF143	chr7:26416619-26416999	GM12878	blood:	n/a	chr7:26416810-26416820
50	CTCF	chr7:26416608-26417020	K562	blood:	n/a	chr7:26416803-26416824 chr7:26416801-26416819 chr7:26416618-26416627 chr7:26416802-26416818

No.	Distal block	Cell Line	Cell type
1	chr7:26416434..26417332-chr7:26547137..26548299,3	MCF-7	breast:
2	chr7:26416924..26418669-chr7:26421719..26424077,2	MCF-7	breast:
3	chr7:26416384..26417209-chr7:26547085..26548227,3	MCF-7	breast:
4	chr7:26416529..26417384-chr7:26588868..26589443,2	MCF-7	breast:
5	chr7:26416373..26417270-chr7:26706909..26707815,11	MCF-7	breast:
6	chr7:26416346..26417264-chr7:26706784..26707684,6	MCF-7	breast:
7	chr7:26416444..26417250-chr7:26437744..26438259,2	MCF-7	breast:
8	chr7:26240504..26242868-chr7:26414665..26416985,3	MCF-7	breast:
9	chr7:26416704..26417245-chr7:26540080..26540734,2	K562	blood:

Variant related genes	Relation type
ENSG00000225792	TF binding region
ENSG00000122565	Chromatin interaction
ENSG00000122566	Chromatin interaction
ENSG00000214870	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs17153630	1.00[EUR][1000 genomes]
rs17153639	1.00[EUR][1000 genomes]
rs17153646	1.00[EUR][1000 genomes]
rs57271652	1.00[EUR][1000 genomes]
rs57468306	1.00[EUR][1000 genomes]
rs58435943	1.00[EUR][1000 genomes]
rs59032944	1.00[AMR][1000 genomes]
rs6946110	1.00[EUR][1000 genomes]
rs6965433	1.00[AMR][1000 genomes]
rs73285286	1.00[AMR][1000 genomes]
rs73683300	1.00[EUR][1000 genomes]
rs7800956	1.00[EUR][1000 genomes]
rs7801068	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021308	chr7:26116605-26419720	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
2	nsv1029596	chr7:26302739-26737913	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv538804	chr7:26302739-26737913	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26414000-26417000	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr7:26415200-26417000	Active TSS	H1 Cell Line	embryonic stem cell
3	chr7:26415200-26417200	Active TSS	H9 Cell Line	embryonic stem cell
4	chr7:26415400-26417000	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr7:26415400-26417000	Flanking Active TSS	Primary B cells from cord blood	blood
6	chr7:26415400-26417000	Bivalent/Poised TSS	Brain Angular Gyrus	brain
7	chr7:26415400-26417200	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
8	chr7:26415600-26417000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
9	chr7:26415600-26417000	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr7:26415600-26417000	Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr7:26415600-26417000	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
12	chr7:26415600-26417000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
13	chr7:26415600-26417000	Active TSS	Primary T helper naive cells from peripheral blood	blood
14	chr7:26415600-26417000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr7:26415600-26417000	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr7:26415600-26417000	Active TSS	Fetal Brain Female	brain
17	chr7:26415600-26417000	Active TSS	Fetal Kidney	kidney
18	chr7:26415600-26417000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
19	chr7:26415600-26417000	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
20	chr7:26415600-26417200	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr7:26415600-26417200	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
22	chr7:26415600-26417200	Active TSS	Brain Anterior Caudate	brain
23	chr7:26415600-26417200	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
24	chr7:26415800-26417000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr7:26415800-26417200	Active TSS	Primary T cells from cord blood	blood
26	chr7:26415800-26417200	Flanking Active TSS	Primary hematopoietic stem cells	blood
27	chr7:26415800-26417200	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
28	chr7:26415800-26417200	Active TSS	A549	lung
29	chr7:26416000-26417000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr7:26416000-26417200	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
31	chr7:26416000-26417200	Bivalent Enhancer	Fetal Heart	heart
32	chr7:26416200-26417000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr7:26416400-26417200	Flanking Active TSS	Fetal Brain Male	brain
34	chr7:26416600-26417000	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
35	chr7:26416600-26417000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
36	chr7:26416600-26417000	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
37	chr7:26416600-26417000	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr7:26416600-26417000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr7:26416600-26417000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr7:26416600-26417000	Active TSS	Colonic Mucosa	Colon
41	chr7:26416600-26417000	Flanking Bivalent TSS/Enh	Placenta	Placenta
42	chr7:26416600-26417000	Flanking Active TSS	Pancreas	Pancrea
43	chr7:26416600-26417000	Enhancers	Right Ventricle	heart
44	chr7:26416800-26417000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr7:26416800-26417000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
46	chr7:26416800-26417000	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr7:26416800-26417000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
48	chr7:26416800-26417000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
49	chr7:26416800-26417000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
50	chr7:26416800-26417000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood

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