Variant report

Variant	rs537233200
Chromosome Location	chr3:49591327-49591328
allele	A/C
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	RCOR1	chr3:49590843-49591398	K562	blood:	n/a	n/a
2	MAX	chr3:49591226-49592017	SK-N-SH	brain:	n/a	n/a
3	MTA3	chr3:49591180-49591705	GM12878	blood:	n/a	n/a
4	POLR2A	chr3:49591186-49592081	H1-hESC	embryonic stem cell:	n/a	n/a
5	MAX	chr3:49591293-49592008	A549	lung:	n/a	n/a
6	REST	chr3:49590593-49593431	HL-60	blood:	n/a	chr3:49591201-49591211 chr3:49590761-49590779 chr3:49592639-49592653 chr3:49590764-49590777 chr3:49592634-49592652 chr3:49592633-49592653 chr3:49592633-49592653
7	CREB1	chr3:49591316-49592050	H1-hESC	embryonic stem cell:	n/a	n/a
8	MAZ	chr3:49591231-49592453	IMR90	lung:	n/a	n/a
9	POLR2A	chr3:49591171-49591333	MCF-7	breast:	n/a	n/a
10	POLR2A	chr3:49591114-49592109	HepG2	liver:	n/a	n/a
11	MAX	chr3:49591123-49592666	HepG2	liver:	n/a	chr3:49591131-49591141
12	BHLHE40	chr3:49591017-49591659	K562	blood:	n/a	n/a
13	POLR2A	chr3:49591070-49591980	H1-hESC	embryonic stem cell:	n/a	n/a
14	REST	chr3:49590783-49593080	H1-neurons	neurons:	n/a	chr3:49591201-49591211 chr3:49592639-49592653 chr3:49592634-49592652 chr3:49592633-49592653 chr3:49592633-49592653
15	SIN3A	chr3:49591074-49592777	H1-hESC	embryonic stem cell:	n/a	chr3:49592638-49592652 chr3:49591201-49591210
16	TAF1	chr3:49591241-49592069	H1-hESC	embryonic stem cell:	n/a	n/a
17	KAP1	chr3:49590902-49591725	HEK293	kidney:	n/a	n/a
18	E2F6	chr3:49591209-49592438	K562	blood:	n/a	chr3:49592404-49592416 chr3:49591894-49591903 chr3:49591940-49591950
19	MXI1	chr3:49591164-49592775	IMR90	lung:	n/a	n/a
20	RCOR1	chr3:49590681-49592523	IMR90	lung:	n/a	n/a
21	ZBTB7A	chr3:49591298-49592055	ECC-1	luminal epithelium:	n/a	chr3:49591880-49591889 chr3:49591434-49591445
22	POLR2A	chr3:49591261-49592052	PFSK-1	brain:	n/a	n/a
23	POLR2A	chr3:49591279-49591966	SK-N-MC	brain:	n/a	n/a
24	YY1	chr3:49591298-49591426	K562	blood:	n/a	n/a
25	SETDB1	chr3:49590817-49591746	U2OS	brain:	n/a	n/a
26	MAX	chr3:49591059-49592752	HepG2	liver:	n/a	chr3:49591131-49591141

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:49590547..49592695-chr3:49709214..49711684,3	MCF-7	breast:
2	chr3:49582614..49585275-chr3:49588937..49591341,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NICN1-1	chr3:49590374-49591536	NONHSAT089709

Variant related genes	Relation type
BSN	TF binding region
ENSG00000164062	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	nsv834687	chr3:49448632-49631788	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	esv3325224	chr3:49590473-49593321	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49590400-49591400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr3:49590400-49591400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
3	chr3:49590600-49591400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr3:49590600-49591400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr3:49590600-49591400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
6	chr3:49590600-49591400	Flanking Active TSS	Brain Anterior Caudate	brain
7	chr3:49590600-49591400	Flanking Active TSS	Brain Cingulate Gyrus	brain
8	chr3:49590600-49591600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
9	chr3:49590600-49591600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr3:49590600-49591600	Flanking Active TSS	Brain Angular Gyrus	brain
11	chr3:49590600-49591600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
12	chr3:49590600-49591600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr3:49590600-49591800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
14	chr3:49590600-49591800	Flanking Active TSS	Dnd41	blood
15	chr3:49590800-49591400	Flanking Active TSS	H9 Cell Line	embryonic stem cell
16	chr3:49590800-49591400	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
17	chr3:49590800-49591400	Enhancers	Fetal Heart	heart
18	chr3:49590800-49591400	Enhancers	Spleen	Spleen
19	chr3:49590800-49591600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr3:49590800-49591600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr3:49590800-49591600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr3:49590800-49591600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr3:49590800-49591600	Flanking Active TSS	Liver	Liver
24	chr3:49590800-49591600	Flanking Active TSS	Brain Hippocampus Middle	brain
25	chr3:49590800-49591600	Flanking Active TSS	Brain Substantia Nigra	brain
26	chr3:49590800-49591600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
27	chr3:49590800-49591600	Flanking Active TSS	Stomach Smooth Muscle	stomach
28	chr3:49590800-49591800	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
29	chr3:49590800-49592400	Active TSS	HUES64 Cell Line	embryonic stem cell
30	chr3:49591000-49591400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
31	chr3:49591000-49591400	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr3:49591000-49591400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
33	chr3:49591000-49591400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
34	chr3:49591000-49591400	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr3:49591000-49591400	Flanking Active TSS	Colon Smooth Muscle	Colon
36	chr3:49591000-49591400	Enhancers	Gastric	stomach
37	chr3:49591000-49591400	Flanking Active TSS	Left Ventricle	heart
38	chr3:49591000-49591400	Flanking Active TSS	Pancreas	Pancrea
39	chr3:49591000-49591400	Flanking Active TSS	Psoas Muscle	Psoas
40	chr3:49591000-49591400	Flanking Active TSS	Rectal Smooth Muscle	rectum
41	chr3:49591000-49591400	Flanking Active TSS	Right Ventricle	heart
42	chr3:49591000-49591400	Flanking Active TSS	A549	lung
43	chr3:49591000-49591400	Flanking Active TSS	HSMM	muscle
44	chr3:49591000-49591600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr3:49591000-49591600	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr3:49591000-49591600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr3:49591000-49591600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr3:49591000-49591600	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
49	chr3:49591000-49591600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr3:49591000-49591600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain

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