Variant report

Variant	rs76711001
Chromosome Location	chr12:49931625-49931626
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:49931440-49932126	H1-neurons	neurons:	n/a	n/a
2	HDAC2	chr12:49931554-49931775	K562	blood:	n/a	n/a
3	EGR1	chr12:49931601-49931927	K562	blood:	n/a	n/a
4	ZNF263	chr12:49931322-49931852	HEK293-T-REx	kidney:	n/a	chr12:49931744-49931753
5	MAX	chr12:49931520-49933106	A549	lung:	n/a	chr12:49932763-49932772 chr12:49932471-49932480
6	SUZ12	chr12:49931448-49932210	H1-hESC	embryonic stem cell:	n/a	n/a
7	CREB1	chr12:49931581-49931900	A549	lung:	n/a	n/a
8	UBTF	chr12:49931624-49931949	K562	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:49930852..49937653-chr12:49953841..49959391,7	K562	blood:
2	chr12:49668500..49671128-chr12:49928861..49931681,2	MCF-7	breast:
3	chr12:49759022..49764027-chr12:49928293..49932911,8	MCF-7	breast:
4	chr12:49759326..49761606-chr12:49928836..49931818,3	MCF-7	breast:
5	chr12:49657477..49660356-chr12:49930384..49933439,3	K562	blood:
6	chr12:49759353..49762276-chr12:49930939..49933731,4	K562	blood:
7	chr12:49930865..49935032-chr12:49959689..49963246,5	K562	blood:
8	chr12:49931420..49936579-chr12:49960006..49963071,6	MCF-7	breast:

No data

Variant related genes	Relation type
KCNH3	TF binding region
ENSG00000258101	Chromatin interaction
ENSG00000110844	Chromatin interaction
ENSG00000167553	Chromatin interaction
ENSG00000187778	Chromatin interaction
ENSG00000123352	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899070	chr12:49811311-49941500	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv832406	chr12:49860693-50062136	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv482795	chr12:49897633-50068686	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	esv1801776	chr12:49915354-49934565	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv899071	chr12:49927148-49955935	Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent Enhancer Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	esv3431223	chr12:49931235-49934833	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49931000-49932400	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
2	chr12:49931200-49931800	Flanking Active TSS	Brain Hippocampus Middle	brain
3	chr12:49931200-49931800	Flanking Bivalent TSS/Enh	K562	blood
4	chr12:49931200-49932000	Bivalent Enhancer	Fetal Thymus	thymus
5	chr12:49931200-49932400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
6	chr12:49931200-49932400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
7	chr12:49931200-49932400	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
8	chr12:49931200-49932400	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
9	chr12:49931200-49932400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr12:49931200-49932400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr12:49931200-49932400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr12:49931200-49932400	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
13	chr12:49931200-49932400	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
14	chr12:49931200-49932400	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
15	chr12:49931200-49932400	Flanking Active TSS	Right Ventricle	heart
16	chr12:49931200-49932400	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
17	chr12:49931200-49932800	Flanking Active TSS	Primary B cells from cord blood	blood
18	chr12:49931200-49932800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr12:49931200-49932800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr12:49931200-49933400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
21	chr12:49931200-49933400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
22	chr12:49931200-49935000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
23	chr12:49931400-49931800	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
24	chr12:49931400-49931800	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
25	chr12:49931400-49931800	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
26	chr12:49931400-49931800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
27	chr12:49931400-49931800	Bivalent/Poised TSS	Brain Substantia Nigra	brain
28	chr12:49931400-49931800	Enhancers	Esophagus	oesophagus
29	chr12:49931400-49931800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
30	chr12:49931400-49931800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
31	chr12:49931400-49931800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
32	chr12:49931400-49931800	Flanking Bivalent TSS/Enh	Placenta	Placenta
33	chr12:49931400-49931800	Enhancers	Gastric	stomach
34	chr12:49931400-49931800	Flanking Bivalent TSS/Enh	Stomach Mucosa	stomach
35	chr12:49931400-49931800	Flanking Active TSS	A549	lung
36	chr12:49931400-49931800	Flanking Active TSS	HSMMtube	muscle
37	chr12:49931400-49931800	Bivalent/Poised TSS	NHLF	lung
38	chr12:49931400-49932000	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr12:49931400-49932000	Active TSS	Breast Myoepithelial Primary Cells	Breast
40	chr12:49931400-49932000	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
41	chr12:49931400-49932200	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr12:49931400-49932200	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr12:49931400-49932200	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr12:49931400-49932200	Flanking Bivalent TSS/Enh	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr12:49931400-49932200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
46	chr12:49931400-49932200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
47	chr12:49931400-49932200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
48	chr12:49931400-49932200	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
49	chr12:49931400-49932200	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
50	chr12:49931400-49932200	Flanking Bivalent TSS/Enh	Psoas Muscle	Psoas

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