Variant report

Variant	rs1836635
Chromosome Location	chr8:64079937-64079938
allele	C/T
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	POLR2A	chr8:64079458-64081451	K562	blood:	n/a	n/a
2	POLR2A	chr8:64079543-64082486	GM12891	blood:	n/a	n/a
3	POLR2A	chr8:64079792-64080125	MCF-7	breast:	n/a	n/a
4	POLR2A	chr8:64078992-64081970	GM12878	blood:	n/a	n/a
5	POLR2A	chr8:64079625-64081872	Raji	blood:	n/a	n/a
6	POLR2A	chr8:64079753-64082489	HepG2	liver:	n/a	n/a
7	POLR2A	chr8:64079352-64080172	SK-N-MC	brain:	n/a	n/a
8	MAZ	chr8:64079916-64082021	IMR90	lung:	n/a	chr8:64081101-64081111
9	POLR2A	chr8:64079806-64080114	K562	blood:	n/a	n/a
10	POLR2A	chr8:64079782-64080278	GM12878	blood:	n/a	n/a
11	POLR2A	chr8:64079589-64082179	IMR90	lung:	n/a	n/a
12	STAT3	chr8:64079591-64079987	GM12878	blood:	n/a	chr8:64079611-64079625 chr8:64079608-64079628 chr8:64079893-64079901 chr8:64079614-64079623 chr8:64079613-64079622 chr8:64079608-64079628 chr8:64079614-64079622
13	POLR2A	chr8:64079846-64081785	K562	blood:	n/a	n/a
14	CHD1	chr8:64079830-64083117	IMR90	lung:	n/a	n/a
15	POLR2A	chr8:64079735-64080156	GM12878	blood:	n/a	n/a
16	POLR2A	chr8:64079673-64082798	PBDE	blood:	n/a	n/a
17	POLR2A	chr8:64079756-64081848	PFSK-1	brain:	n/a	n/a
18	MXI1	chr8:64079903-64081964	IMR90	lung:	n/a	n/a
19	POLR2A	chr8:64079521-64080173	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr8:64079807-64080114	GM12892	blood:	n/a	n/a
21	POLR2A	chr8:64078970-64081416	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:64041174..64043019-chr8:64079400..64080966,2	K562	blood:
2	chr8:64078480..64080986-chr8:64100261..64102698,2	MCF-7	breast:
3	chr8:63950192..63952306-chr8:64079468..64082451,3	K562	blood:
4	chr8:62678357..62681293-chr8:64079795..64081873,2	MCF-7	breast:

Variant related genes	Relation type
YTHDF3	TF binding region
ENSG00000137563	Chromatin interaction
ENSG00000251127	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10088859	0.81[YRI][hapmap]
rs10098776	0.81[YRI][hapmap]
rs16930250	0.82[YRI][hapmap]
rs28685228	1.00[EUR][1000 genomes]
rs4074214	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv465701	chr8:63951237-64080486	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv611448	chr8:63951237-64080486	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv890965	chr8:64006201-64104092	Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv890966	chr8:64073650-64099240	Active TSS Flanking Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:64078400-64080200	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr8:64078800-64080400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr8:64079000-64080200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr8:64079000-64080200	Enhancers	Primary B cells from peripheral blood	blood
5	chr8:64079200-64080000	Flanking Active TSS	GM12878-XiMat	blood
6	chr8:64079200-64080000	Flanking Active TSS	K562	blood
7	chr8:64079400-64080000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr8:64079400-64080000	Enhancers	Fetal Brain Female	brain
9	chr8:64079400-64080200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr8:64079400-64080200	Enhancers	Brain Substantia Nigra	brain
11	chr8:64079400-64080200	Enhancers	Fetal Thymus	thymus
12	chr8:64079400-64080200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
13	chr8:64079400-64080800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr8:64079600-64080000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:64079600-64080000	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr8:64079600-64080000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr8:64079600-64080000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
18	chr8:64079600-64080000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
19	chr8:64079600-64080000	Enhancers	Primary T cells from cord blood	blood
20	chr8:64079600-64080000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr8:64079600-64080000	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr8:64079600-64080000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr8:64079600-64080000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr8:64079600-64080000	Enhancers	Liver	Liver
25	chr8:64079600-64080000	Enhancers	Colon Smooth Muscle	Colon
26	chr8:64079600-64080000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
27	chr8:64079600-64080000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr8:64079600-64080000	Enhancers	Fetal Stomach	stomach
29	chr8:64079600-64080200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr8:64079600-64080200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr8:64079600-64080200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
32	chr8:64079600-64080200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
33	chr8:64079600-64080200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
34	chr8:64079600-64080200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr8:64079600-64080200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
36	chr8:64079600-64080200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
37	chr8:64079600-64080200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
38	chr8:64079600-64080200	Flanking Active TSS	Dnd41	blood
39	chr8:64079600-64080200	Flanking Active TSS	HMEC	breast
40	chr8:64079600-64080200	Flanking Active TSS	NHDF-Ad	bronchial
41	chr8:64079600-64080200	Flanking Active TSS	NHLF	lung
42	chr8:64079600-64080400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr8:64079600-64080400	Flanking Active TSS	Fetal Heart	heart
44	chr8:64079600-64080400	Flanking Active TSS	Osteobl	bone
45	chr8:64079600-64080600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr8:64079600-64080600	Flanking Active TSS	NH-A	brain
47	chr8:64079800-64080000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
48	chr8:64079800-64080000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
49	chr8:64079800-64080000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr8:64079800-64080000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast

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