Variant report

Variant	rs529795323
Chromosome Location	chr12:124246643-124246644
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	CTCF	chr12:124246500-124246650	GM12865	blood:	n/a	chr12:124246572-124246585
2	CTCF	chr12:124246500-124246650	GM12872	blood:	n/a	chr12:124246572-124246585
3	SIN3A	chr12:124246456-124247060	GM12878	blood:	n/a	chr12:124246895-124246904
4	POLR2A	chr12:124245802-124247997	K562	blood:	n/a	n/a
5	RAD21	chr12:124246327-124246698	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr12:124246363-124246965	HUVEC	blood vessel:	n/a	n/a
7	NFATC1	chr12:124246043-124247035	GM12878	blood:	n/a	n/a
8	CTCF	chr12:124246500-124246650	HA-sp	spinal cord:	n/a	chr12:124246572-124246585
9	CTCF	chr12:124246500-124246650	AoAF	blood vessel:	n/a	chr12:124246572-124246585
10	POLR2A	chr12:124246494-124246682	A549	lung:	n/a	n/a
11	CTCF	chr12:124246540-124246690	HAc	cerebellar:	n/a	chr12:124246572-124246585
12	CTCF	chr12:124246451-124246696	GM12878	blood:	n/a	chr12:124246572-124246585
13	NFATC1	chr12:124246137-124247075	GM12878	blood:	n/a	n/a
14	ATF2	chr12:124246313-124246745	GM12878	blood:	n/a	n/a
15	ZNF143	chr12:124246404-124246758	GM12878	blood:	n/a	chr12:124246734-124246744
16	SIN3AK20	chr12:124246341-124247081	PANC-1	pancreas:	n/a	n/a
17	RAD21	chr12:124246384-124246738	GM12878	blood:	n/a	n/a
18	CTCF	chr12:124246500-124246650	HVMF	connective:	n/a	chr12:124246572-124246585
19	PAX5	chr12:124246379-124247146	GM12892	blood:	n/a	chr12:124246769-124246778
20	CTCF	chr12:124246520-124246670	GM12868	blood:	n/a	chr12:124246572-124246585
21	CTCF	chr12:124246425-124246717	IMR90	lung:	n/a	chr12:124246572-124246585
22	CTCF	chr12:124246493-124246667	HepG2	liver:	n/a	chr12:124246572-124246585
23	CTCF	chr12:124246483-124246645	MCF-7	breast:	n/a	chr12:124246572-124246585
24	PAX5	chr12:124246338-124246666	GM12878	blood:	n/a	n/a
25	MAX	chr12:124246213-124247471	HepG2	liver:	n/a	chr12:124246832-124246841 chr12:124246915-124246922 chr12:124247235-124247242 chr12:124247234-124247243 chr12:124247196-124247206
26	YY1	chr12:124246337-124247139	GM12878	blood:	n/a	chr12:124246762-124246776 chr12:124246777-124246791 chr12:124246771-124246785 chr12:124246689-124246700
27	MXI1	chr12:124245970-124247083	GM12878	blood:	n/a	n/a
28	CTCF	chr12:124246500-124246650	GM12871	blood:	n/a	chr12:124246572-124246585
29	GTF2F1	chr12:124246511-124246664	H1-hESC	embryonic stem cell:	n/a	n/a
30	SIN3A	chr12:124246344-124248011	H1-hESC	embryonic stem cell:	n/a	chr12:124247207-124247215 chr12:124246895-124246904
31	POLR2A	chr12:124246327-124246697	GM12891	blood:	n/a	n/a
32	TCF3	chr12:124246369-124246722	GM12878	blood:	n/a	n/a
33	HDAC2	chr12:124246366-124247054	H1-hESC	embryonic stem cell:	n/a	chr12:124246949-124246968
34	PAX5	chr12:124246552-124247091	GM12891	blood:	n/a	chr12:124246769-124246778
35	CTCF	chr12:124246520-124246670	NHDF-neo	bronchial:	n/a	chr12:124246572-124246585
36	CTCF	chr12:124246500-124246650	HUVEC	blood vessel:	n/a	chr12:124246572-124246585
37	CTCF	chr12:124246500-124246650	GM12867	blood:	n/a	chr12:124246572-124246585
38	CTCF	chr12:124246500-124246650	GM12869	blood:	n/a	chr12:124246572-124246585
39	RAD21	chr12:124246308-124246820	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTCF	chr12:124246431-124246713	GM19240	blood:	n/a	chr12:124246572-124246585
41	YY1	chr12:124246364-124247085	GM12892	blood:	n/a	chr12:124246762-124246776 chr12:124246777-124246791 chr12:124246771-124246785 chr12:124246689-124246700
42	RAD21	chr12:124246294-124246687	HepG2	liver:	n/a	n/a
43	POU2F2	chr12:124246385-124246707	GM12891	blood:	n/a	n/a
44	BCL3	chr12:124246296-124247346	GM12878	blood:	n/a	chr12:124246703-124246716
45	CTCF	chr12:124246357-124246803	H1-hESC	embryonic stem cell:	n/a	chr12:124246572-124246585
46	CCNT2	chr12:124246551-124246673	K562	blood:	n/a	n/a
47	YY1	chr12:124246299-124247256	GM12891	blood:	n/a	chr12:124246762-124246776 chr12:124246777-124246791 chr12:124246771-124246785 chr12:124247156-124247170 chr12:124246689-124246700
48	RAD21	chr12:124246372-124246720	H1-hESC	embryonic stem cell:	n/a	n/a
49	SIN3AK20	chr12:124246392-124247124	H1-hESC	embryonic stem cell:	n/a	n/a
50	MAX	chr12:124246263-124246757	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:124238409..124242727-chr12:124245328..124248805,4	MCF-7	breast:
2	chr12:124239074..124241226-chr12:124246281..124247802,2	K562	blood:

Variant related genes	Relation type
DNAH10	TF binding region
ENSG00000185344	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	nsv498024	chr12:123994372-124459856	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	esv3389445	chr12:124245999-124247847	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124201800-124247800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:124203800-124248000	Strong transcription	Dnd41	blood
3	chr12:124234200-124247400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr12:124239800-124246800	Weak transcription	Brain Angular Gyrus	brain
5	chr12:124239800-124247200	Weak transcription	HSMM	muscle
6	chr12:124239800-124249400	Weak transcription	Brain Substantia Nigra	brain
7	chr12:124239800-124252000	Weak transcription	K562	blood
8	chr12:124244800-124254800	Weak transcription	HSMMtube	muscle
9	chr12:124245800-124247800	Bivalent Enhancer	Fetal Brain Male	brain
10	chr12:124245800-124248000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr12:124246000-124247200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr12:124246000-124247400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr12:124246000-124247600	Flanking Active TSS	Primary hematopoietic stem cells	blood
14	chr12:124246000-124247600	Active TSS	Rectal Smooth Muscle	rectum
15	chr12:124246200-124246800	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr12:124246200-124247000	Active TSS	H1 Cell Line	embryonic stem cell
17	chr12:124246200-124247000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
18	chr12:124246200-124247000	Active TSS	Primary neutrophils fromperipheralblood	blood
19	chr12:124246200-124247000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr12:124246200-124247000	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
21	chr12:124246200-124247000	Active TSS	Brain Hippocampus Middle	brain
22	chr12:124246200-124247000	Bivalent/Poised TSS	Fetal Lung	lung
23	chr12:124246200-124247000	Active TSS	Rectal Mucosa Donor 29	rectum
24	chr12:124246200-124247000	Active TSS	Thymus	Thymus
25	chr12:124246200-124247000	Active TSS	NH-A	brain
26	chr12:124246200-124247000	Active TSS	NHLF	lung
27	chr12:124246200-124247000	Active TSS	Osteobl	bone
28	chr12:124246200-124247200	Active TSS	iPS-20b Cell Line	embryonic stem cell
29	chr12:124246200-124247200	Active TSS	Primary T helper naive cells from peripheral blood	blood
30	chr12:124246200-124247200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
31	chr12:124246200-124247200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr12:124246200-124247400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr12:124246200-124247400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr12:124246200-124247600	Active TSS	Fetal Kidney	kidney
35	chr12:124246200-124247800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
36	chr12:124246200-124247800	Active TSS	H9 Cell Line	embryonic stem cell
37	chr12:124246200-124248200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
38	chr12:124246400-124246800	Flanking Bivalent TSS/Enh	Psoas Muscle	Psoas
39	chr12:124246400-124246800	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
40	chr12:124246400-124246800	Enhancers	Stomach Mucosa	stomach
41	chr12:124246400-124246800	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
42	chr12:124246400-124246800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
43	chr12:124246400-124247000	Active TSS	Primary monocytes fromperipheralblood	blood
44	chr12:124246400-124247000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
45	chr12:124246400-124247000	Active TSS	Brain Inferior Temporal Lobe	brain
46	chr12:124246400-124247000	Active TSS	Duodenum Mucosa	Duodenum
47	chr12:124246400-124247000	Flanking Bivalent TSS/Enh	Left Ventricle	heart
48	chr12:124246400-124247000	Flanking Active TSS	Lung	lung
49	chr12:124246400-124247000	Active TSS	Placenta Amnion	Placenta Amnion
50	chr12:124246400-124247000	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle

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