Variant report

Variant	rs1839878
Chromosome Location	chr8:65490072-65490073
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	SP1	chr8:65489884-65490458	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr8:65489978-65490155	GM10266	blood:	n/a	chr8:65490071-65490084 chr8:65490123-65490133
3	CTCF	chr8:65490020-65490170	HMF	breast:	n/a	chr8:65490071-65490084 chr8:65490123-65490133
4	CTCF	chr8:65490020-65490170	RPTEC	kidney:	n/a	chr8:65490071-65490084 chr8:65490123-65490133
5	CTCF	chr8:65489960-65490110	GM12872	blood:	n/a	chr8:65490071-65490084
6	CTCF	chr8:65489990-65490170	GM13977	blood:	n/a	chr8:65490071-65490084 chr8:65490123-65490133
7	CTCF	chr8:65489960-65490110	NHDF-neo	bronchial:	n/a	chr8:65490071-65490084
8	CTCF	chr8:65489980-65490130	HUVEC	blood vessel:	n/a	chr8:65490071-65490084
9	CTCF	chr8:65489980-65490130	GM12873	blood:	n/a	chr8:65490071-65490084
10	CTCF	chr8:65489960-65490110	HPF	lung:	n/a	chr8:65490071-65490084
11	CTCF	chr8:65489980-65490130	HRPEpiC	eye:	n/a	chr8:65490071-65490084
12	CTCF	chr8:65490060-65490210	HMEC	breast:	n/a	chr8:65490071-65490084 chr8:65490123-65490133
13	CTCF	chr8:65490011-65490133	Pancreas_OC	pancreas:	n/a	chr8:65490071-65490084 chr8:65490123-65490133
14	POLR2A	chr8:65489458-65495014	GM18951	blood:	n/a	n/a
15	MYC	chr8:65490050-65490212	H1-hESC	embryonic stem cell:	n/a	n/a
16	KAP1	chr8:65489656-65490540	U2OS	brain:	n/a	n/a
17	ATF2	chr8:65489934-65490276	GM12878	blood:	n/a	chr8:65490095-65490106
18	CTCF	chr8:65490000-65490150	BJ	skin:	n/a	chr8:65490071-65490084 chr8:65490123-65490133
19	CTCF	chr8:65489980-65490130	AG09309	skin:	n/a	chr8:65490071-65490084
20	YY1	chr8:65489842-65490142	H1-hESC	embryonic stem cell:	n/a	chr8:65490105-65490114
21	RAD21	chr8:65489814-65490258	H1-hESC	embryonic stem cell:	n/a	chr8:65490074-65490084 chr8:65490074-65490086 chr8:65490065-65490078
22	STAT1	chr8:65489644-65490292	GM12878	blood:	n/a	chr8:65490269-65490277
23	TBP	chr8:65490018-65490221	H1-hESC	embryonic stem cell:	n/a	n/a
24	CTCF	chr8:65489980-65490130	AG09319	gingival:	n/a	chr8:65490071-65490084
25	MAX	chr8:65489921-65490313	H1-hESC	embryonic stem cell:	n/a	n/a
26	CTCF	chr8:65490040-65490190	GM06990	blood:	n/a	chr8:65490071-65490084 chr8:65490123-65490133
27	CTCF	chr8:65490000-65490150	AG09319	gingival:	n/a	chr8:65490071-65490084 chr8:65490123-65490133
28	EP300	chr8:65489504-65490262	GM12878	blood:	n/a	chr8:65489675-65489691
29	CREB1	chr8:65489784-65490424	H1-hESC	embryonic stem cell:	n/a	chr8:65490094-65490107
30	NRF1	chr8:65489845-65490304	GM12878	blood:	n/a	n/a
31	CTCF	chr8:65489955-65490107	IMR90	lung:	n/a	chr8:65490071-65490084
32	CTCF	chr8:65489994-65490173	Medullo	brain:	n/a	chr8:65490071-65490084 chr8:65490123-65490133
33	JUND	chr8:65489943-65490250	H1-hESC	embryonic stem cell:	n/a	chr8:65490096-65490105
34	CTCF	chr8:65489987-65490121	A549	lung:	n/a	chr8:65490071-65490084
35	RAD21	chr8:65489961-65490196	GM12878	blood:	n/a	chr8:65490074-65490084 chr8:65490074-65490086 chr8:65490065-65490078
36	CREB1	chr8:65489843-65490356	H1-hESC	embryonic stem cell:	n/a	chr8:65490094-65490107
37	CTCF	chr8:65489980-65490130	GM12870	blood:	n/a	chr8:65490071-65490084
38	RAD21	chr8:65489891-65490194	SK-N-SH_RA	brain:	n/a	chr8:65490074-65490084 chr8:65490074-65490086 chr8:65490065-65490078
39	RAD21	chr8:65489929-65490474	H1-hESC	embryonic stem cell:	n/a	chr8:65490074-65490084 chr8:65490074-65490086 chr8:65490065-65490078
40	CTCF	chr8:65490020-65490170	HVMF	connective:	n/a	chr8:65490071-65490084 chr8:65490123-65490133
41	WRNIP1	chr8:65489732-65490297	GM12878	blood:	n/a	n/a
42	CTCF	chr8:65489980-65490130	HBMEC	blood vessel:	n/a	chr8:65490071-65490084
43	CTCF	chr8:65489960-65490110	A549	lung:	n/a	chr8:65490071-65490084
44	CREB1	chr8:65489859-65490251	A549	lung:	n/a	chr8:65490094-65490107
45	CTCF	chr8:65490060-65490210	BE2_C	brain:	n/a	chr8:65490071-65490084 chr8:65490123-65490133
46	CTCF	chr8:65490000-65490150	SK-N-SH_RA	brain:	n/a	chr8:65490071-65490084 chr8:65490123-65490133
47	CTCF	chr8:65489940-65490090	AG04449	skin:	n/a	chr8:65490071-65490084
48	CTCF	chr8:65489940-65490090	HA-sp	spinal cord:	n/a	chr8:65490071-65490084
49	CTCF	chr8:65489969-65490179	H1-hESC	embryonic stem cell:	n/a	chr8:65490071-65490084 chr8:65490123-65490133
50	CTCF	chr8:65490040-65490190	GM12878	blood:	n/a	chr8:65490071-65490084 chr8:65490123-65490133

Variant related genes	Relation type
BHLHE22	TF binding region
ENSG00000254102	TF binding region

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs16931308	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16931326	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16931374	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs28391816	0.85[EUR][1000 genomes]
rs3779871	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs4263804	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs4358837	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs4521800	0.83[EUR][1000 genomes]
rs4543580	0.81[EUR][1000 genomes]
rs4737202	0.83[EUR][1000 genomes]
rs4737677	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs4737684	0.83[EUR][1000 genomes]
rs55852316	0.83[EUR][1000 genomes]
rs56682216	0.83[EUR][1000 genomes]
rs57071798	0.85[EUR][1000 genomes]
rs57148757	0.83[EUR][1000 genomes]
rs57948164	0.83[EUR][1000 genomes]
rs58284770	0.83[EUR][1000 genomes]
rs58303167	0.83[EUR][1000 genomes]
rs58451406	0.83[EUR][1000 genomes]
rs58668371	0.83[EUR][1000 genomes]
rs60551204	0.83[EUR][1000 genomes]
rs6981395	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6997421	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7012812	0.83[EUR][1000 genomes]
rs73688006	0.83[EUR][1000 genomes]
rs73688014	0.83[EUR][1000 genomes]
rs73688018	0.83[EUR][1000 genomes]
rs73688022	0.83[EUR][1000 genomes]
rs73688285	0.83[EUR][1000 genomes]
rs73688286	0.83[EUR][1000 genomes]
rs73688293	0.83[EUR][1000 genomes]
rs73688294	0.83[EUR][1000 genomes]
rs73689569	0.83[EUR][1000 genomes]
rs73689574	0.83[EUR][1000 genomes]
rs73689575	0.83[EUR][1000 genomes]
rs9918785	0.83[EUR][1000 genomes]

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	nsv534001	chr8:64992196-65798776	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
2	nsv972538	chr8:65489860-65495278	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:65487800-65490600	Bivalent/Poised TSS	Brain Anterior Caudate	brain
2	chr8:65487800-65491400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr8:65487800-65491800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
4	chr8:65487800-65492800	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
5	chr8:65488000-65490200	Bivalent Enhancer	Primary hematopoietic stem cells	blood
6	chr8:65488000-65490800	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr8:65488200-65490400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
8	chr8:65488400-65490600	Active TSS	Brain Substantia Nigra	brain
9	chr8:65488400-65491200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
10	chr8:65488400-65492200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr8:65488600-65491000	Bivalent/Poised TSS	Brain Angular Gyrus	brain
12	chr8:65488600-65491600	Bivalent Enhancer	Fetal Brain Male	brain
13	chr8:65489000-65490200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
14	chr8:65489000-65490200	Active TSS	Right Atrium	heart
15	chr8:65489000-65491200	Bivalent Enhancer	Fetal Stomach	stomach
16	chr8:65489400-65490200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
17	chr8:65489400-65490200	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
18	chr8:65489400-65490400	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr8:65489400-65490400	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
20	chr8:65489400-65490600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
21	chr8:65489400-65490800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr8:65489400-65490800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr8:65489400-65490800	Bivalent Enhancer	Spleen	Spleen
24	chr8:65489400-65490800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
25	chr8:65489400-65491000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr8:65489400-65491400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
27	chr8:65489400-65492400	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
28	chr8:65489600-65490200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr8:65489600-65490200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
30	chr8:65489600-65490200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr8:65489600-65490200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr8:65489600-65490200	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
33	chr8:65489600-65490200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr8:65489600-65490200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr8:65489600-65490200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr8:65489600-65490200	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr8:65489600-65490200	Flanking Bivalent TSS/Enh	Liver	Liver
38	chr8:65489600-65490200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
39	chr8:65489600-65490200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
40	chr8:65489600-65490200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
41	chr8:65489600-65490200	Flanking Active TSS	Right Ventricle	heart
42	chr8:65489600-65490200	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
43	chr8:65489600-65490200	Bivalent Enhancer	HMEC	breast
44	chr8:65489600-65490400	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
45	chr8:65489600-65490400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr8:65489600-65490400	Flanking Bivalent TSS/Enh	Colon Smooth Muscle	Colon
47	chr8:65489600-65491000	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr8:65489600-65491000	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
49	chr8:65489600-65491200	Bivalent Enhancer	Brain Germinal Matrix	brain
50	chr8:65489600-65491800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell

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