Variant report

Variant	rs573298639
Chromosome Location	chr7:26438090-26438091
allele	C/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	E2F6	chr7:26437596-26438809	K562	blood:	n/a	n/a
2	MYC	chr7:26437596-26439124	NB4	blood:	n/a	chr7:26437959-26437969 chr7:26437752-26437761
3	GATA2	chr7:26437331-26439435	SH-SY5Y	brain:	n/a	chr7:26437759-26437767
4	MAX	chr7:26437489-26438108	H1-hESC	embryonic stem cell:	n/a	chr7:26437959-26437969 chr7:26437752-26437761
5	CTCF	chr7:26438080-26438230	GM12872	blood:	n/a	n/a
6	POLR2A	chr7:26437812-26438221	GM12892	blood:	n/a	n/a
7	MAX	chr7:26437585-26439122	K562	blood:	n/a	chr7:26437959-26437969 chr7:26437752-26437761
8	CTCF	chr7:26437788-26438212	K562	blood:	n/a	chr7:26437939-26437952 chr7:26437939-26437948
9	POLR2A	chr7:26437691-26438690	HEK293	kidney:	n/a	n/a
10	CTCF	chr7:26437940-26438090	HRPEpiC	eye:	n/a	n/a
11	POLR2A	chr7:26437683-26438786	A549	lung:	n/a	n/a
12	MAX	chr7:26437959-26439171	ECC-1	luminal epithelium:	n/a	chr7:26437959-26437969
13	POLR2A	chr7:26437786-26439075	K562	blood:	n/a	n/a
14	ZEB1	chr7:26437782-26439122	GM12878	blood:	n/a	n/a
15	MYC	chr7:26438067-26438267	MCF10A-Er-Src	breast:	n/a	n/a
16	GTF2F1	chr7:26437792-26438219	H1-hESC	embryonic stem cell:	n/a	n/a
17	MAX	chr7:26437493-26439166	K562	blood:	n/a	chr7:26437959-26437969 chr7:26437752-26437761
18	HDAC2	chr7:26437668-26438113	K562	blood:	n/a	n/a
19	ELF1	chr7:26437502-26439142	GM12878	blood:	n/a	chr7:26437841-26437853
20	POLR2A	chr7:26437950-26438706	K562	blood:	n/a	n/a
21	ELF1	chr7:26438058-26438320	K562	blood:	n/a	n/a
22	HA-E2F1	chr7:26438009-26438776	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr7:26437709-26438758	K562	blood:	n/a	n/a
24	ELF1	chr7:26437917-26438312	K562	blood:	n/a	n/a
25	MYC	chr7:26437454-26439222	K562	blood:	n/a	chr7:26437959-26437969 chr7:26437752-26437761
26	YY1	chr7:26437634-26439040	GM12878	blood:	n/a	chr7:26438684-26438693 chr7:26437841-26437855
27	POLR2A	chr7:26438061-26438468	HCT-116	colon:	n/a	n/a
28	POLR2A	chr7:26438048-26438386	HCT-116	colon:	n/a	n/a
29	POLR2A	chr7:26437895-26438382	GM12891	blood:	n/a	n/a
30	JUND	chr7:26437865-26439107	K562	blood:	n/a	n/a
31	EBF1	chr7:26437982-26439054	GM12878	blood:	n/a	chr7:26438728-26438738 chr7:26438727-26438738
32	E2F6	chr7:26437470-26439230	H1-hESC	embryonic stem cell:	n/a	n/a
33	EGR1	chr7:26437975-26438871	K562	blood:	n/a	chr7:26438118-26438128
34	RCOR1	chr7:26437866-26439292	GM12878	blood:	n/a	n/a
35	E2F4	chr7:26438042-26438945	K562	blood:	n/a	n/a
36	POLR2A	chr7:26437709-26439218	HL-60	blood:	n/a	n/a
37	POLR2A	chr7:26437571-26439406	HUVEC	blood vessel:	n/a	n/a
38	YY1	chr7:26438052-26438500	GM12891	blood:	n/a	n/a
39	NRF1	chr7:26437955-26438691	GM12878	blood:	n/a	n/a
40	POLR2A	chr7:26437618-26439118	GM19099	blood:	n/a	n/a
41	RCOR1	chr7:26437517-26439173	K562	blood:	n/a	n/a
42	MXI1	chr7:26438046-26438261	GM12878	blood:	n/a	n/a
43	MXI1	chr7:26437982-26438136	H1-hESC	embryonic stem cell:	n/a	n/a
44	PML	chr7:26437402-26439224	GM12878	blood:	n/a	n/a
45	POLR2A	chr7:26438019-26438717	K562	blood:	n/a	n/a
46	POLR2A	chr7:26437571-26438893	GM12878	blood:	n/a	n/a
47	CTCF	chr7:26438000-26438150	GM12871	blood:	n/a	n/a
48	PAX5	chr7:26438047-26438794	GM12892	blood:	n/a	n/a
49	TAF1	chr7:26438004-26439158	H1-neurons	neurons:	n/a	n/a
50	POLR2A	chr7:26437588-26438986	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000214870	TF binding region

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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	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
2	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
3	esv3374116	chr7:26436952-26439800	Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26436000-26438600	Enhancers	Fetal Brain Male	brain
2	chr7:26437200-26439400	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr7:26437400-26438200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
4	chr7:26437400-26438200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr7:26437400-26438200	Flanking Active TSS	Stomach Smooth Muscle	stomach
6	chr7:26437400-26438400	Flanking Active TSS	Primary B cells from cord blood	blood
7	chr7:26437400-26438600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr7:26437400-26438600	Active TSS	Osteobl	bone
9	chr7:26437400-26438800	Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr7:26437400-26439000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr7:26437400-26439000	Active TSS	Psoas Muscle	Psoas
12	chr7:26437400-26439400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr7:26437400-26439600	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr7:26437600-26438200	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
15	chr7:26437600-26438200	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
16	chr7:26437600-26438200	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
17	chr7:26437600-26438400	Active TSS	Skeletal Muscle Female	skeletal muscle
18	chr7:26437600-26438600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr7:26437600-26438600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr7:26437600-26438600	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr7:26437600-26438600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
22	chr7:26437600-26438600	Active TSS	Primary hematopoietic stem cells	blood
23	chr7:26437600-26438600	Bivalent/Poised TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr7:26437600-26438600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr7:26437600-26438600	Active TSS	Aorta	Aorta
26	chr7:26437600-26438600	Active TSS	Gastric	stomach
27	chr7:26437600-26438800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr7:26437600-26438800	Active TSS	iPS-15b Cell Line	embryonic stem cell
29	chr7:26437600-26438800	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
30	chr7:26437600-26438800	Active TSS	Brain Angular Gyrus	brain
31	chr7:26437600-26438800	Active TSS	Brain Anterior Caudate	brain
32	chr7:26437600-26438800	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
33	chr7:26437600-26438800	Active TSS	Brain Substantia Nigra	brain
34	chr7:26437600-26438800	Active TSS	Rectal Smooth Muscle	rectum
35	chr7:26437600-26438800	Active TSS	A549	lung
36	chr7:26437600-26438800	Active TSS	Hela-S3	cervix
37	chr7:26437600-26438800	Active TSS	HSMMtube	muscle
38	chr7:26437600-26439000	Active TSS	iPS-18 Cell Line	embryonic stem cell
39	chr7:26437600-26439000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr7:26437600-26439000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr7:26437600-26439000	Flanking Active TSS	HMEC	breast
42	chr7:26437600-26439200	Active TSS	H9 Cell Line	embryonic stem cell
43	chr7:26437600-26439200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr7:26437600-26439200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr7:26437600-26439200	Flanking Active TSS	Liver	Liver
46	chr7:26437600-26439200	Active TSS	HSMM	muscle
47	chr7:26437600-26439400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr7:26437600-26439400	Active TSS	HUES64 Cell Line	embryonic stem cell
49	chr7:26437800-26438200	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
50	chr7:26437800-26438600	Active TSS	HUES6 Cell Line	embryonic stem cell

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