Variant report

Variant	rs34152646
Chromosome Location	chr1:150670448-150670449
allele	-/CC
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:61)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RFX5	chr1:150668562-150670834	SK-N-SH	brain:	n/a	chr1:150669882-150669891 chr1:150669644-150669660 chr1:150669753-150669761
2	NFYA	chr1:150669439-150670499	GM12878	blood:	n/a	chr1:150669879-150669893 chr1:150669878-150669890 chr1:150669879-150669894 chr1:150669678-150669693 chr1:150669708-150669723 chr1:150669879-150669894 chr1:150669708-150669723 chr1:150669879-150669892 chr1:150669708-150669722
3	SIN3AK20	chr1:150669345-150670495	MCF-7	breast:	n/a	n/a
4	KAP1	chr1:150669468-150670485	HEK293	kidney:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:150670422-150670472	HPAEpiC	pulmonary alveolar:	n/a
2	chr1:150670422-150670472	HIPEpiC	eye:	n/a
3	chr1:150670422-150670472	GM12891	blood:	n/a
4	chr1:150670422-150670472	SKMC	muscle:	n/a
5	chr1:150670422-150670472	Jurkat	blood:	n/a
6	chr1:150670422-150670472	SAEC	small airway:	n/a
7	chr1:150670422-150670472	NT2-D1	testis:	n/a
8	chr1:150670422-150670472	SK-N-SH	brain:	n/a
9	chr1:150670422-150670472	HCF	heart:	n/a
10	chr1:150670422-150670472	BJ	skin:	n/a
11	chr1:150670422-150670472	HCPEpiC	choroid plexus:	n/a
12	chr1:150670422-150670472	NH-A	brain:	n/a
13	chr1:150670422-150670472	K562	blood:	n/a
14	chr1:150670422-150670472	GM06990	blood:	n/a
15	chr1:150670422-150670472	AG09309	skin:	n/a
16	chr1:150670422-150670472	HRE	kidney:	n/a
17	chr1:150670422-150670472	HL-60	blood:	n/a
18	chr1:150670422-150670472	T-47D	breast:	n/a
19	chr1:150670422-150670472	ProgFib	skin:	n/a
20	chr1:150670422-150670472	HNPCEpiC	eye:	n/a
21	chr1:150670422-150670472	AG10803	skin:	n/a
22	chr1:150670422-150670472	NB4	blood:	n/a
23	chr1:150670422-150670472	Caco-2	colon:	n/a
24	chr1:150670422-150670472	PrEC	prostate:	n/a
25	chr1:150670422-150670472	MCF-7	breast:	n/a
26	chr1:150670422-150670472	SK-N-SH_RA	brain:	n/a
27	chr1:150670422-150670472	HRPEpiC	eye:	n/a
28	chr1:150670422-150670472	HUVEC	blood vessel:	n/a
29	chr1:150670422-150670472	BE2_C	brain:	n/a
30	chr1:150670422-150670472	AG04450	lung:	fetal
31	chr1:150670422-150670472	HepG2	liver:	n/a
32	chr1:150670422-150670472	MCF10A-Er-Src	breast:	n/a
33	chr1:150670422-150670472	HAEpiC	amniotic membrane:	n/a
34	chr1:150670422-150670472	AoSMC	blood vessel:	n/a
35	chr1:150670422-150670472	AG04449	skin:	fetal
36	chr1:150670422-150670472	RPTEC	kidney:	n/a
37	chr1:150670422-150670472	ECC-1	luminal epithelium:	n/a
38	chr1:150670422-150670472	NHBE	bronchial:	n/a
39	chr1:150670422-150670472	A549	lung:	n/a
40	chr1:150670422-150670472	IMR90	lung:	fetal
41	chr1:150670422-150670472	ovcar-3	ovarian:	n/a
42	chr1:150670422-150670472	HMEC	breast:	n/a
43	chr1:150670422-150670472	HCT-116	colon:	n/a
44	chr1:150670422-150670472	U87	brain:	n/a
45	chr1:150670422-150670472	AG09319	gingival:	n/a
46	chr1:150670422-150670472	SK-N-MC	brain:	n/a
47	chr1:150670422-150670472	PFSK-1	brain:	n/a
48	chr1:150670422-150670472	Hela-S3	cervix:	n/a
49	chr1:150670422-150670472	LNCaP	prostate:	n/a
50	chr1:150670422-150670472	HRCEpiC	kidney:	n/a

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:150551078..150552936-chr1:150667990..150671349,4	K562	blood:
2	chr1:150667811..150671175-chr1:150944483..150949055,4	MCF-7	breast:
3	chr1:150533613..150535919-chr1:150668275..150670992,2	MCF-7	breast:
4	chr1:150600620..150604710-chr1:150667156..150670884,6	K562	blood:
5	chr1:150551507..150553628-chr1:150668472..150670953,2	K562	blood:
6	chr1:150600649..150603708-chr1:150666872..150671304,5	K562	blood:
7	chr1:150669609..150671897-chr1:150782631..150785278,2	K562	blood:
8	chr1:150600957..150603301-chr1:150669104..150670860,3	MCF-7	breast:
9	chr1:150670046..150672281-chr1:150847927..150849937,2	MCF-7	breast:

No data

Variant related genes	Relation type
GOLPH3L	TF binding region
RNU6-1042P	TF binding region
RNU6-1042P	CpG island
GOLPH3L	CpG island
ENSG00000231073	Chromatin interaction
ENSG00000203804	Chromatin interaction
ENSG00000143437	Chromatin interaction
ENSG00000143420	Chromatin interaction
ENSG00000143418	Chromatin interaction
ENSG00000200175	Chromatin interaction
ENSG00000143384	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	nsv1006838	chr1:150440214-150722783	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
2	esv2829859	chr1:150608894-150937329	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv872417	chr1:150618632-150759979	Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv1014638	chr1:150647987-150679033	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv437158	chr1:150652202-150683512	Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv520425	chr1:150669952-150673684	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150668000-150670600	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr1:150668000-150670600	Active TSS	K562	blood
3	chr1:150668200-150670600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr1:150668400-150670600	Active TSS	Ovary	ovary
5	chr1:150668600-150670600	Active TSS	Brain Inferior Temporal Lobe	brain
6	chr1:150668600-150670600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr1:150668600-150670600	Active TSS	Right Atrium	heart
8	chr1:150668800-150670600	Active TSS	Brain Angular Gyrus	brain
9	chr1:150668800-150670600	Active TSS	Right Ventricle	heart
10	chr1:150668800-150670600	Active TSS	Stomach Smooth Muscle	stomach
11	chr1:150668800-150670600	Active TSS	NHDF-Ad	bronchial
12	chr1:150669000-150670600	Active TSS	Primary T cells fromperipheralblood	blood
13	chr1:150669000-150670600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr1:150669000-150670600	Active TSS	Brain Cingulate Gyrus	brain
15	chr1:150669000-150670600	Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr1:150669400-150670600	Active TSS	Brain Substantia Nigra	brain
17	chr1:150669800-150670600	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
18	chr1:150670000-150670600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:150670000-150670600	Flanking Active TSS	Primary B cells from cord blood	blood
20	chr1:150670000-150670600	Flanking Active TSS	Primary T cells from cord blood	blood
21	chr1:150670000-150670600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
22	chr1:150670000-150670600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
23	chr1:150670000-150670600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
24	chr1:150670000-150670600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr1:150670000-150670600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr1:150670000-150670600	Flanking Active TSS	Adipose Nuclei	Adipose
27	chr1:150670000-150670600	Flanking Active TSS	Dnd41	blood
28	chr1:150670200-150670600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
29	chr1:150670200-150670600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr1:150670200-150670600	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr1:150670200-150670600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
32	chr1:150670200-150670600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
33	chr1:150670200-150670600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
34	chr1:150670200-150670600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
35	chr1:150670200-150670600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
36	chr1:150670200-150670600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
37	chr1:150670200-150670600	Flanking Active TSS	Fetal Intestine Large	intestine
38	chr1:150670200-150670600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
39	chr1:150670200-150670600	Flanking Active TSS	A549	lung
40	chr1:150670200-150670600	Flanking Active TSS	GM12878-XiMat	blood
41	chr1:150670400-150670600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr1:150670400-150670600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr1:150670400-150670600	Enhancers	Primary B cells from peripheral blood	blood
44	chr1:150670400-150670600	Enhancers	Primary hematopoietic stem cells	blood
45	chr1:150670400-150670600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
46	chr1:150670400-150670600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr1:150670400-150670600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr1:150670400-150670600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr1:150670400-150670600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr1:150670400-150670600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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