Variant report

Variant	rs139329072
Chromosome Location	chr1:193155846-193155847
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TAF1	chr1:193155478-193155911	H1-neurons	neurons:	n/a	n/a
2	MYC	chr1:193155653-193155855	MCF10A-Er-Src	breast:	n/a	n/a
3	MXI1	chr1:193154561-193156105	IMR90	lung:	n/a	n/a
4	USF1	chr1:193155604-193155932	A549	lung:	n/a	n/a
5	MXI1	chr1:193154452-193157811	SK-N-SH	brain:	n/a	n/a
6	BHLHE40	chr1:193155686-193155886	K562	blood:	n/a	n/a
7	MAX	chr1:193155097-193155961	SK-N-SH	brain:	n/a	n/a
8	REST	chr1:193154882-193156208	H1-neurons	neurons:	n/a	n/a
9	MYC	chr1:193155740-193155965	MCF10A-Er-Src	breast:	n/a	n/a
10	SIN3AK20	chr1:193155544-193155912	SK-N-SH	brain:	n/a	n/a
11	POLR2A	chr1:193154893-193155968	H1-neurons	neurons:	n/a	n/a
12	USF2	chr1:193155728-193155867	GM12878	blood:	n/a	n/a
13	MAFK	chr1:193155735-193155867	K562	blood:	n/a	n/a
14	MAX	chr1:193155521-193155959	SK-N-SH	brain:	n/a	n/a
15	USF1	chr1:193155564-193155870	SK-N-SH_RA	brain:	n/a	n/a
16	USF1	chr1:193155619-193156041	SK-N-SH	brain:	n/a	n/a
17	POLR2A	chr1:193155118-193155942	H1-neurons	neurons:	n/a	n/a
18	USF1	chr1:193155619-193155894	K562	blood:	n/a	n/a
19	TBL1XR1	chr1:193155712-193155892	K562	blood:	n/a	n/a
20	USF1	chr1:193155593-193155923	SK-N-SH_RA	brain:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:193155806-193155856	HRE	kidney:	n/a
2	chr1:193155806-193155856	HCT-116	colon:	n/a
3	chr1:193155806-193155856	NHBE	bronchial:	n/a
4	chr1:193155806-193155856	H1-hESC	embryonic stem cell:	embryo
5	chr1:193155806-193155856	BE2_C	brain:	n/a
6	chr1:193155806-193155856	GM19239	blood:	n/a
7	chr1:193155806-193155856	LNCaP	prostate:	n/a
8	chr1:193155806-193155856	K562	blood:	n/a
9	chr1:193155806-193155856	ECC-1	luminal epithelium:	n/a
10	chr1:193155806-193155856	HEEpiC	esophagus:	n/a
11	chr1:193155806-193155856	IMR90	lung:	fetal
12	chr1:193155806-193155856	GM12892	blood:	n/a
13	chr1:193155806-193155856	GM12891	blood:	n/a
14	chr1:193155806-193155856	CMK	blood:	n/a
15	chr1:193155806-193155856	Hela-S3	cervix:	n/a
16	chr1:193155806-193155856	HCPEpiC	choroid plexus:	n/a
17	chr1:193155806-193155856	SK-N-MC	brain:	n/a
18	chr1:193155806-193155856	HRPEpiC	eye:	n/a
19	chr1:193155806-193155856	ovcar-3	ovarian:	n/a
20	chr1:193155806-193155856	HCM	heart:	n/a
21	chr1:193155806-193155856	NH-A	brain:	n/a
22	chr1:193155806-193155856	SK-N-SH	brain:	n/a
23	chr1:193155806-193155856	PrEC	prostate:	n/a
24	chr1:193155806-193155856	NB4	blood:	n/a
25	chr1:193155806-193155856	NT2-D1	testis:	n/a
26	chr1:193155806-193155856	HAEpiC	amniotic membrane:	n/a
27	chr1:193155806-193155856	Jurkat	blood:	n/a
28	chr1:193155806-193155856	AG10803	skin:	n/a
29	chr1:193155806-193155856	PANC-1	pancreas:	n/a
30	chr1:193155806-193155856	MCF-7	breast:	n/a
31	chr1:193155806-193155856	Caco-2	colon:	n/a
32	chr1:193155806-193155856	SK-N-SH_RA	brain:	n/a
33	chr1:193155806-193155856	ProgFib	skin:	n/a
34	chr1:193155806-193155856	T-47D	breast:	n/a
35	chr1:193155806-193155856	HUVEC	blood vessel:	n/a
36	chr1:193155806-193155856	HCF	heart:	n/a
37	chr1:193155806-193155856	A549	lung:	n/a
38	chr1:193155806-193155856	HIPEpiC	eye:	n/a
39	chr1:193155806-193155856	MCF10A-Er-Src	breast:	n/a
40	chr1:193155806-193155856	AG04449	skin:	fetal
41	chr1:193155806-193155856	HepG2	liver:	n/a
42	chr1:193155806-193155856	HMEC	breast:	n/a
43	chr1:193155806-193155856	U87	brain:	n/a
44	chr1:193155806-193155856	HEK293	kidney:	embryo
45	chr1:193155806-193155856	GM06990	blood:	n/a
46	chr1:193155806-193155856	RPTEC	kidney:	n/a
47	chr1:193155806-193155856	PFSK-1	brain:	n/a
48	chr1:193155806-193155856	AG09309	skin:	n/a
49	chr1:193155806-193155856	HL-60	blood:	n/a
50	chr1:193155806-193155856	HPAEpiC	pulmonary alveolar:	n/a

No data

Variant related genes	Relation type
B3GALT2	TF binding region
B3GALT2	CpG island

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832148	chr1:193143945-193292897	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv872831	chr1:193152317-193322087	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	esv275335	chr1:193155443-193159711	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193131800-193158600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:193140400-193159800	Weak transcription	Dnd41	blood
3	chr1:193140800-193161400	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr1:193144200-193160400	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr1:193148400-193161200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr1:193149600-193156600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr1:193149800-193156600	Active TSS	Brain Inferior Temporal Lobe	brain
8	chr1:193150200-193156400	Active TSS	Brain Angular Gyrus	brain
9	chr1:193150400-193157600	Active TSS	Fetal Brain Female	brain
10	chr1:193150800-193156000	Active TSS	Fetal Brain Male	brain
11	chr1:193150800-193156000	Active TSS	HSMM	muscle
12	chr1:193150800-193157000	Active TSS	HSMMtube	muscle
13	chr1:193151400-193156200	Active TSS	Brain Germinal Matrix	brain
14	chr1:193151600-193156200	Active TSS	Fetal Muscle Leg	muscle
15	chr1:193151600-193156600	Active TSS	NHLF	lung
16	chr1:193151800-193156000	Active TSS	NHDF-Ad	bronchial
17	chr1:193152000-193156000	Active TSS	Brain Anterior Caudate	brain
18	chr1:193152000-193156200	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
19	chr1:193152400-193156000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr1:193152400-193156000	Active TSS	Fetal Intestine Large	intestine
21	chr1:193152600-193156000	Active TSS	Brain Hippocampus Middle	brain
22	chr1:193152600-193156200	Active TSS	Brain Cingulate Gyrus	brain
23	chr1:193152600-193156600	Active TSS	Fetal Stomach	stomach
24	chr1:193153400-193156000	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr1:193153600-193156000	Active TSS	Ovary	ovary
26	chr1:193153600-193156200	Active TSS	Brain Substantia Nigra	brain
27	chr1:193153600-193156400	Active TSS	Right Ventricle	heart
28	chr1:193153600-193158000	Active TSS	Right Atrium	heart
29	chr1:193154000-193156000	Active TSS	Duodenum Smooth Muscle	Duodenum
30	chr1:193154400-193156000	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr1:193154600-193156000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr1:193154600-193156200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:193154600-193156200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
34	chr1:193154600-193156200	Active TSS	Stomach Smooth Muscle	stomach
35	chr1:193154800-193156000	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr1:193154800-193156000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr1:193154800-193156400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr1:193154800-193156800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr1:193154800-193157400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr1:193155000-193156000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr1:193155000-193156000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr1:193155000-193156000	Enhancers	Psoas Muscle	Psoas
43	chr1:193155000-193156000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
44	chr1:193155000-193156000	Flanking Active TSS	A549	lung
45	chr1:193155000-193156000	Flanking Active TSS	Osteobl	bone
46	chr1:193155000-193156200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
47	chr1:193155000-193156600	Enhancers	Primary T cells from cord blood	blood
48	chr1:193155000-193156600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
49	chr1:193155200-193156000	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr1:193155200-193156000	Enhancers	Primary T helper naive cells from peripheral blood	blood

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