Variant report

Variant	rs575868229
Chromosome Location	chr11:74951314-74951315
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	E2F6	chr11:74951288-74951860	H1-hESC	embryonic stem cell:	n/a	chr11:74951728-74951737 chr11:74951787-74951796
2	ZNF263	chr11:74951281-74951764	HEK293-T-REx	kidney:	n/a	chr11:74951566-74951575 chr11:74951603-74951612
3	MXI1	chr11:74951164-74953261	SK-N-SH	brain:	n/a	n/a
4	MAX	chr11:74951258-74951794	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:74660462..74662157-chr11:74951131..74952954,2	K562	blood:

Variant related genes	Relation type
TPBGL	TF binding region
ENSG00000118363	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049887	chr11:74937977-75040438	Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1036292	chr11:74937977-75059496	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	65 gene(s)	inside rSNPs	diseases
3	nsv1041640	chr11:74945824-75174688	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	94 gene(s)	inside rSNPs	diseases
4	nsv832211	chr11:74945839-75106125	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	66 gene(s)	inside rSNPs	diseases
5	esv3338705	chr11:74950304-74954802	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	esv3357620	chr11:74951054-74954252	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	esv3416910	chr11:74951204-74954302	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74945400-74951600	Weak transcription	Ovary	ovary
2	chr11:74950600-74951400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr11:74951000-74951400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr11:74951000-74951400	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr11:74951000-74951400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
6	chr11:74951000-74951400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
7	chr11:74951000-74951400	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr11:74951000-74951400	Bivalent Enhancer	Brain Germinal Matrix	brain
9	chr11:74951000-74951400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
10	chr11:74951000-74951400	Bivalent Enhancer	Fetal Stomach	stomach
11	chr11:74951000-74951600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
12	chr11:74951000-74952200	Enhancers	Spleen	Spleen
13	chr11:74951000-74953200	Active TSS	Brain Anterior Caudate	brain
14	chr11:74951000-74953400	Active TSS	Brain Angular Gyrus	brain
15	chr11:74951000-74953600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
16	chr11:74951200-74951400	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
17	chr11:74951200-74951400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
18	chr11:74951200-74951400	Flanking Bivalent TSS/Enh	H9 Cell Line	embryonic stem cell
19	chr11:74951200-74951400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr11:74951200-74951400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
21	chr11:74951200-74951400	Bivalent/Poised TSS	Primary T helper memory cells from peripheral blood 2	blood
22	chr11:74951200-74951400	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
23	chr11:74951200-74951400	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
24	chr11:74951200-74951400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
25	chr11:74951200-74951400	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
26	chr11:74951200-74951400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
27	chr11:74951200-74951400	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr11:74951200-74951400	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
29	chr11:74951200-74951400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr11:74951200-74951400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr11:74951200-74951400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
32	chr11:74951200-74951400	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr11:74951200-74951400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr11:74951200-74951400	Bivalent/Poised TSS	Adipose Nuclei	Adipose
35	chr11:74951200-74951400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
36	chr11:74951200-74951400	Bivalent Enhancer	Fetal Muscle Leg	muscle
37	chr11:74951200-74951400	Bivalent Enhancer	Placenta	Placenta
38	chr11:74951200-74951400	Enhancers	Right Atrium	heart
39	chr11:74951200-74951400	Bivalent Enhancer	HepG2	liver
40	chr11:74951200-74951400	Bivalent Enhancer	HUVEC	blood vessel
41	chr11:74951200-74951600	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
42	chr11:74951200-74951600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
43	chr11:74951200-74951600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr11:74951200-74951600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
45	chr11:74951200-74951600	Active TSS	Right Ventricle	heart
46	chr11:74951200-74951800	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr11:74951200-74952000	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr11:74951200-74952000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
49	chr11:74951200-74952600	Active TSS	Brain Inferior Temporal Lobe	brain

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