Variant report

Variant	rs535458777
Chromosome Location	chr17:38218572-38218573
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr17:38218520-38218670	NHLF	lung:	n/a	n/a
2	CTCF	chr17:38218560-38218710	HRE	kidney:	n/a	n/a
3	ZBTB7A	chr17:38218158-38219960	K562	blood:	n/a	chr17:38218854-38218868
4	RAD21	chr17:38218525-38220199	SK-N-SH	brain:	n/a	chr17:38219783-38219796 chr17:38219720-38219733 chr17:38219796-38219808
5	GTF2F1	chr17:38218562-38218602	H1-hESC	embryonic stem cell:	n/a	n/a
6	MYBL2	chr17:38218452-38218924	HepG2	liver:	n/a	n/a
7	ZBTB7A	chr17:38218572-38219980	K562	blood:	n/a	chr17:38218854-38218868
8	MXI1	chr17:38218480-38222365	SK-N-SH	brain:	n/a	n/a
9	MAX	chr17:38218501-38218807	K562	blood:	n/a	n/a
10	SIN3A	chr17:38218544-38218867	H1-hESC	embryonic stem cell:	n/a	n/a
11	BHLHE40	chr17:38218514-38218813	K562	blood:	n/a	n/a
12	ARID3A	chr17:38218569-38218625	K562	blood:	n/a	n/a
13	MAZ	chr17:38218571-38220427	K562	blood:	n/a	n/a
14	MAZ	chr17:38218422-38220238	IMR90	lung:	n/a	n/a
15	POLR2A	chr17:38218567-38218660	HepG2	liver:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:38218382..38219065-chr17:38324572..38325105,2	MCF-7	breast:
2	chr17:38218404..38220452-chr17:38276626..38279762,4	K562	blood:
3	chr17:38218404..38220452-chr17:38276626..38279762,3	K562	blood:
4	chr17:38216131..38218859-chr17:38295458..38297078,2	K562	blood:
5	chr17:38181477..38183501-chr17:38217583..38219827,2	MCF-7	breast:
6	chr17:38216722..38220271-chr17:38254476..38257952,5	K562	blood:
7	chr17:38217616..38219835-chr17:38296248..38299363,4	K562	blood:

No data

Variant related genes	Relation type
MED24	TF binding region
THRA	TF binding region
ENSG00000008838	Chromatin interaction
ENSG00000126368	Chromatin interaction
ENSG00000188895	Chromatin interaction
ENSG00000108349	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv908221	chr17:38216522-38289003	Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	esv3393448	chr17:38218451-38220999	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38211200-38218600	Weak transcription	Left Ventricle	heart
2	chr17:38211200-38218600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr17:38214800-38218600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr17:38214800-38218600	Weak transcription	HUVEC	blood vessel
5	chr17:38215000-38218600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr17:38215200-38218600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr17:38215200-38218600	Weak transcription	Right Atrium	heart
8	chr17:38216000-38218600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr17:38216600-38218600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr17:38217200-38218600	Enhancers	Pancreas	Pancrea
11	chr17:38217200-38218800	Enhancers	Esophagus	oesophagus
12	chr17:38217400-38218600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr17:38217400-38218600	Enhancers	Fetal Muscle Leg	muscle
14	chr17:38217400-38218600	Enhancers	Spleen	Spleen
15	chr17:38217400-38218800	Flanking Active TSS	Fetal Brain Female	brain
16	chr17:38217400-38218800	Flanking Bivalent TSS/Enh	HepG2	liver
17	chr17:38217600-38218600	Enhancers	Duodenum Smooth Muscle	Duodenum
18	chr17:38217600-38218600	Bivalent Enhancer	Fetal Thymus	thymus
19	chr17:38217600-38218800	Flanking Active TSS	Brain Germinal Matrix	brain
20	chr17:38217600-38218800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr17:38217800-38218600	Enhancers	NHLF	lung
22	chr17:38218000-38218600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr17:38218000-38218600	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr17:38218000-38218600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr17:38218000-38218600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr17:38218000-38218600	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr17:38218000-38219000	Enhancers	Placenta Amnion	Placenta Amnion
28	chr17:38218200-38218600	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr17:38218200-38218600	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr17:38218200-38218600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr17:38218200-38218600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr17:38218200-38218600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr17:38218200-38218600	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr17:38218200-38218600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr17:38218200-38218600	Enhancers	Fetal Stomach	stomach
36	chr17:38218200-38218600	Enhancers	Ovary	ovary
37	chr17:38218200-38218600	Enhancers	Right Ventricle	heart
38	chr17:38218200-38218600	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr17:38218200-38218600	Enhancers	Thymus	Thymus
40	chr17:38218200-38218800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
41	chr17:38218200-38218800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr17:38218200-38218800	Flanking Active TSS	Brain Angular Gyrus	brain
43	chr17:38218200-38218800	Flanking Active TSS	Brain Cingulate Gyrus	brain
44	chr17:38218200-38218800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
45	chr17:38218200-38218800	Flanking Active TSS	Duodenum Mucosa	Duodenum
46	chr17:38218200-38218800	Flanking Active TSS	Fetal Brain Male	brain
47	chr17:38218400-38218600	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
48	chr17:38218400-38218600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
49	chr17:38218400-38218600	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr17:38218400-38218600	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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