Variant report

Variant	rs138087302
Chromosome Location	chr6:150259439-150259440
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:56)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:56 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOSL2	chr6:150259063-150259447	HepG2	liver:	n/a	n/a
2	NR2F2	chr6:150258956-150259515	K562	blood:	n/a	n/a
3	SPI1	chr6:150259202-150259487	K562	blood:	n/a	chr6:150259448-150259455
4	ESRRA	chr6:150259409-150261022	GM12878	blood:	n/a	n/a
5	CTCF	chr6:150259380-150259530	HBMEC	blood vessel:	n/a	n/a
6	CTCF	chr6:150259340-150259490	BJ	skin:	n/a	n/a
7	CTCF	chr6:150259400-150259550	HMF	breast:	n/a	n/a
8	CTCF	chr6:150259300-150259450	SK-N-SH_RA	brain:	n/a	n/a
9	POLR2A	chr6:150259064-150259514	GM12878	blood:	n/a	n/a
10	CTCF	chr6:150259360-150259510	NHEK	skin:	n/a	n/a
11	CTCF	chr6:150259400-150259550	HFF-Myc	foreskin:	n/a	n/a
12	CTCF	chr6:150259360-150259510	HMEC	breast:	n/a	n/a
13	HEY1	chr6:150259191-150259516	K562	blood:	n/a	n/a
14	IRF4	chr6:150259083-150259533	GM12878	blood:	n/a	n/a
15	CTCF	chr6:150259320-150259470	HAc	cerebellar:	n/a	n/a
16	CTCF	chr6:150259340-150259490	HepG2	liver:	n/a	n/a
17	CTCF	chr6:150259380-150259530	A549	lung:	n/a	n/a
18	CTCF	chr6:150259380-150259530	GM06990	blood:	n/a	n/a
19	CTCF	chr6:150259380-150259530	HCPEpiC	choroid plexus:	n/a	n/a
20	CTCF	chr6:150259380-150259530	HVMF	connective:	n/a	n/a
21	CTCF	chr6:150259380-150259530	HPAF	blood vessel:	n/a	n/a
22	CTCF	chr6:150259360-150259510	GM12864	blood:	n/a	n/a
23	CTCF	chr6:150259380-150259530	AG09309	skin:	n/a	n/a
24	CTCF	chr6:150259300-150259450	GM12864	blood:	n/a	n/a
25	CTCF	chr6:150259046-150259469	A549	lung:	n/a	n/a
26	CTCF	chr6:150259340-150259490	WERI-Rb-1	eye:	n/a	n/a
27	POLR2A	chr6:150259076-150259478	GM12891	blood:	n/a	n/a
28	SUZ12	chr6:150259426-150261085	NT2-D1	testis:	n/a	n/a
29	POLR2A	chr6:150259141-150259614	U87	brain:	n/a	n/a
30	CTCF	chr6:150259380-150259530	HEEpiC	esophagus:	n/a	n/a
31	POU2F2	chr6:150258991-150259492	GM12878	blood:	n/a	chr6:150259306-150259318
32	CTCF	chr6:150259340-150259490	GM12873	blood:	n/a	n/a
33	SUZ12	chr6:150259414-150260894	H1-hESC	embryonic stem cell:	n/a	n/a
34	TEAD4	chr6:150259048-150259444	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr6:150258985-150259697	H1-hESC	embryonic stem cell:	n/a	n/a
36	CTCF	chr6:150259380-150259530	NHEK	skin:	n/a	n/a
37	IRF4	chr6:150259015-150259486	GM12878	blood:	n/a	n/a
38	POLR2A	chr6:150259214-150259450	MCF-7	breast:	n/a	n/a
39	CTCF	chr6:150259400-150259550	HFF	foreskin:	n/a	n/a
40	CTCF	chr6:150259340-150259490	HCFaa	heart:	n/a	n/a
41	CTCF	chr6:150259400-150259550	RPTEC	kidney:	n/a	n/a
42	ELF1	chr6:150259420-150260359	GM12878	blood:	n/a	chr6:150259820-150259833
43	PAX5	chr6:150259089-150259470	GM12878	blood:	n/a	n/a
44	SP1	chr6:150259108-150259500	GM12878	blood:	n/a	chr6:150259311-150259323 chr6:150259308-150259322 chr6:150259312-150259321 chr6:150259312-150259322 chr6:150259311-150259323 chr6:150259313-150259322 chr6:150259312-150259322
45	CTCF	chr6:150259380-150259530	SAEC	small airway:	n/a	n/a
46	POU2F2	chr6:150259021-150259471	GM12891	blood:	n/a	chr6:150259306-150259318
47	CTCF	chr6:150259340-150259490	HCM	heart:	n/a	n/a
48	PAX5	chr6:150258995-150260388	GM12878	blood:	n/a	n/a
49	CTCF	chr6:150259320-150259470	GM12871	blood:	n/a	n/a
50	POLR2A	chr6:150259205-150259464	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:150258514..150260378-chr6:150337573..150339969,2	MCF-7	breast:
2	chr6:149846576..149848106-chr6:150258402..150260712,2	K562	blood:
3	chr6:150255165..150257260-chr6:150258635..150261924,3	MCF-7	breast:
4	chr6:150257396..150260080-chr6:150261360..150264274,3	MCF-7	breast:

No data

Variant related genes	Relation type
ULBP2	TF binding region
ENSG00000131015	Chromatin interaction
ENSG00000216621	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv886764	chr6:150114745-150393683	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv517022	chr6:150145001-150426272	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers 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	nsv886765	chr6:150198491-150288722	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	esv1817805	chr6:150209592-150268708	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	esv3332714	chr6:150259037-150275045	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:150258000-150259600	Bivalent Enhancer	GM12878-XiMat	blood
2	chr6:150258800-150259600	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
3	chr6:150258800-150259600	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
4	chr6:150258800-150259600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr6:150258800-150259800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
6	chr6:150259000-150259600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
7	chr6:150259000-150259600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
8	chr6:150259200-150259600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
9	chr6:150259200-150259600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr6:150259400-150259600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
11	chr6:150259400-150259600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
12	chr6:150259400-150259600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
13	chr6:150259400-150259600	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr6:150259400-150259600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
15	chr6:150259400-150259600	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr6:150259400-150259600	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
17	chr6:150259400-150259600	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr6:150259400-150259600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr6:150259400-150259600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
20	chr6:150259400-150259600	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
21	chr6:150259400-150259600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
22	chr6:150259400-150259600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
23	chr6:150259400-150259600	Flanking Bivalent TSS/Enh	Primary T helper memory cells from peripheral blood 1	blood
24	chr6:150259400-150259600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
25	chr6:150259400-150259600	Bivalent/Poised TSS	Cortex derived primary cultured neurospheres	brain
26	chr6:150259400-150259600	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr6:150259400-150259600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr6:150259400-150259600	Bivalent Enhancer	Brain Cingulate Gyrus	brain
29	chr6:150259400-150259600	Bivalent Enhancer	Brain Hippocampus Middle	brain
30	chr6:150259400-150259600	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
31	chr6:150259400-150259600	Bivalent Enhancer	Brain Substantia Nigra	brain
32	chr6:150259400-150259600	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
33	chr6:150259400-150259600	Bivalent Enhancer	Fetal Muscle Leg	muscle
34	chr6:150259400-150259600	Bivalent Enhancer	Fetal Stomach	stomach
35	chr6:150259400-150259600	Bivalent Enhancer	Left Ventricle	heart
36	chr6:150259400-150259600	Bivalent Enhancer	Ovary	ovary
37	chr6:150259400-150259600	Enhancers	Pancreas	Pancrea
38	chr6:150259400-150259600	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
39	chr6:150259400-150259600	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
40	chr6:150259400-150259600	Active TSS	Right Ventricle	heart
41	chr6:150259400-150259600	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
42	chr6:150259400-150259600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
43	chr6:150259400-150259600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
44	chr6:150259400-150259600	Bivalent Enhancer	HUVEC	blood vessel
45	chr6:150259400-150259600	Bivalent/Poised TSS	NH-A	brain
46	chr6:150259400-150259600	Bivalent/Poised TSS	NHEK	skin
47	chr6:150259400-150259800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
48	chr6:150259400-150259800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr6:150259400-150259800	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr6:150259400-150259800	Bivalent Enhancer	Primary B cells from cord blood	blood

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