Variant report

Variant	rs368163938
Chromosome Location	chr7:138349197-138349198
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPD	chr7:138349000-138349263	HepG2	liver:	n/a	n/a
2	POLR2A	chr7:138348971-138349206	H1-hESC	embryonic stem cell:	n/a	n/a
3	HA-E2F1	chr7:138348977-138349459	MCF-7	breast:	n/a	chr7:138348988-138349002
4	GATA3	chr7:138348908-138349217	T-47D	breast:	n/a	n/a
5	SIN3A	chr7:138348393-138349373	H1-hESC	embryonic stem cell:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:138349158-138349208	GM12891	blood:	n/a
2	chr7:138349158-138349208	Caco-2	colon:	n/a
3	chr7:138349158-138349208	HNPCEpiC	eye:	n/a
4	chr7:138349158-138349208	ECC-1	luminal epithelium:	n/a
5	chr7:138349158-138349208	NHDF-neo	bronchial:	n/a
6	chr7:138349158-138349208	HMEC	breast:	n/a
7	chr7:138349158-138349208	GM19239	blood:	n/a
8	chr7:138349158-138349208	LNCaP	prostate:	n/a
9	chr7:138349158-138349208	HCM	heart:	n/a
10	chr7:138349158-138349208	HepG2	liver:	n/a
11	chr7:138349158-138349208	SK-N-MC	brain:	n/a
12	chr7:138349158-138349208	H1-hESC	embryonic stem cell:	embryo
13	chr7:138349158-138349208	HEK293	kidney:	embryo
14	chr7:138349158-138349208	HCPEpiC	choroid plexus:	n/a
15	chr7:138349158-138349208	PANC-1	pancreas:	n/a
16	chr7:138349158-138349208	Jurkat	blood:	n/a
17	chr7:138349158-138349208	BE2_C	brain:	n/a
18	chr7:138349158-138349208	CMK	blood:	n/a
19	chr7:138349158-138349208	NHBE	bronchial:	n/a
20	chr7:138349158-138349208	HL-60	blood:	n/a
21	chr7:138349158-138349208	T-47D	breast:	n/a
22	chr7:138349158-138349208	GM12878	blood:	n/a
23	chr7:138349158-138349208	HCF	heart:	n/a
24	chr7:138349158-138349208	HAEpiC	amniotic membrane:	n/a
25	chr7:138349158-138349208	GM06990	blood:	n/a
26	chr7:138349158-138349208	ovcar-3	ovarian:	n/a
27	chr7:138349158-138349208	PFSK-1	brain:	n/a
28	chr7:138349158-138349208	MCF-7	breast:	n/a
29	chr7:138349158-138349208	AG10803	skin:	n/a
30	chr7:138349158-138349208	GM12892	blood:	n/a
31	chr7:138349158-138349208	AG04450	lung:	fetal
32	chr7:138349158-138349208	ProgFib	skin:	n/a
33	chr7:138349158-138349208	SK-N-SH	brain:	n/a
34	chr7:138349158-138349208	HPAEpiC	pulmonary alveolar:	n/a
35	chr7:138349158-138349208	NB4	blood:	n/a
36	chr7:138349158-138349208	Hepatocyte	liver:	n/a
37	chr7:138349158-138349208	K562	blood:	n/a
38	chr7:138349158-138349208	U87	brain:	n/a
39	chr7:138349158-138349208	HRPEpiC	eye:	n/a
40	chr7:138349158-138349208	AoSMC	blood vessel:	n/a
41	chr7:138349158-138349208	RPTEC	kidney:	n/a
42	chr7:138349158-138349208	IMR90	lung:	fetal
43	chr7:138349158-138349208	AG09319	gingival:	n/a
44	chr7:138349158-138349208	HCT-116	colon:	n/a
45	chr7:138349158-138349208	HUVEC	blood vessel:	n/a
46	chr7:138349158-138349208	SK-N-SH_RA	brain:	n/a
47	chr7:138349158-138349208	MCF10A-Er-Src	breast:	n/a
48	chr7:138349158-138349208	HRCEpiC	kidney:	n/a
49	chr7:138349158-138349208	AG09309	skin:	n/a
50	chr7:138349158-138349208	NH-A	brain:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:138144628..138146925-chr7:138348716..138351288,3	MCF-7	breast:

No data

Variant related genes	Relation type
SVOPL	TF binding region
SVOPL	CpG island
ENSG00000122779	Chromatin interaction

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	nsv1030956	chr7:138163169-138579519	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	esv3325609	chr7:138348437-138351285	Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	esv3426851	chr7:138348612-138351035	Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:138345800-138349400	Enhancers	Fetal Heart	heart
2	chr7:138348400-138349200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr7:138348400-138349200	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr7:138348400-138349400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:138348400-138349400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr7:138348400-138349400	Active TSS	Brain Cingulate Gyrus	brain
7	chr7:138348400-138349400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr7:138348400-138349400	Active TSS	Fetal Kidney	kidney
9	chr7:138348400-138349400	Active TSS	NHEK	skin
10	chr7:138348400-138349600	Active TSS	Primary T cells from cord blood	blood
11	chr7:138348400-138349600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr7:138348400-138349600	Active TSS	Cortex derived primary cultured neurospheres	brain
13	chr7:138348400-138349600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr7:138348400-138349600	Active TSS	Brain Inferior Temporal Lobe	brain
15	chr7:138348400-138349600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
16	chr7:138348400-138349600	Active TSS	Fetal Intestine Small	intestine
17	chr7:138348400-138349600	Active TSS	Rectal Mucosa Donor 29	rectum
18	chr7:138348400-138350000	Active TSS	H1 Cell Line	embryonic stem cell
19	chr7:138348400-138350000	Active TSS	Brain Anterior Caudate	brain
20	chr7:138348400-138350000	Active TSS	Brain Hippocampus Middle	brain
21	chr7:138348400-138350000	Active TSS	Brain Substantia Nigra	brain
22	chr7:138348400-138350200	Active TSS	H9 Cell Line	embryonic stem cell
23	chr7:138348600-138349200	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr7:138348600-138349200	Active TSS	Primary B cells from cord blood	blood
25	chr7:138348600-138349200	Active TSS	Muscle Satellite Cultured Cells	--
26	chr7:138348600-138349200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr7:138348600-138349200	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr7:138348600-138349200	Active TSS	Fetal Lung	lung
29	chr7:138348600-138349400	Bivalent/Poised TSS	Primary neutrophils fromperipheralblood	blood
30	chr7:138348600-138349400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr7:138348600-138349400	Active TSS	Brain Angular Gyrus	brain
32	chr7:138348600-138349400	Bivalent/Poised TSS	Psoas Muscle	Psoas
33	chr7:138348600-138349400	Active TSS	Rectal Smooth Muscle	rectum
34	chr7:138348600-138349400	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
35	chr7:138348600-138349400	Active TSS	HSMM	muscle
36	chr7:138348600-138349400	Bivalent/Poised TSS	HSMMtube	muscle
37	chr7:138348600-138349400	Active TSS	NH-A	brain
38	chr7:138348600-138349400	Active TSS	Osteobl	bone
39	chr7:138348600-138349600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr7:138348600-138349600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr7:138348600-138349600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr7:138348600-138349600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr7:138348600-138349600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr7:138348600-138349600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
45	chr7:138348600-138349600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
46	chr7:138348600-138349600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr7:138348600-138349600	Active TSS	Duodenum Mucosa	Duodenum
48	chr7:138348600-138349600	Active TSS	Pancreatic Islets	Pancreatic Islet
49	chr7:138348600-138349600	Flanking Active TSS	Placenta	Placenta
50	chr7:138348600-138349600	Flanking Active TSS	Fetal Thymus	thymus

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