Variant report

Variant	rs572101914
Chromosome Location	chr7:96647516-96647517
allele	A/G
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	chr7:96629453-96654775	H1-neurons	neurons:	n/a	n/a
2	CTBP2	chr7:96645669-96647906	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr7:96647155-96647543	HepG2	liver:	n/a	n/a
4	SUZ12	chr7:96645469-96648990	H1-hESC	embryonic stem cell:	n/a	n/a
5	REST	chr7:96645097-96647724	H1-neurons	neurons:	n/a	n/a
6	POLR2A	chr7:96628026-96649797	H1-neurons	neurons:	n/a	n/a
7	REST	chr7:96624507-96656402	H1-neurons	neurons:	n/a	chr7:96626900-96626913 chr7:96628274-96628287 chr7:96653242-96653252 chr7:96638441-96638449 chr7:96644780-96644790 chr7:96627625-96627635 chr7:96628223-96628236 chr7:96655951-96655958 chr7:96625513-96625526 chr7:96635204-96635222 chr7:96634677-96634690 chr7:96628302-96628315 chr7:96652071-96652084 chr7:96650634-96650647 chr7:96628298-96628318 chr7:96628298-96628318
8	SUZ12	chr7:96645885-96648969	NT2-D1	testis:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:96647483-96647533	SKMC	muscle:	n/a
2	chr7:96647483-96647533	PrEC	prostate:	n/a
3	chr7:96647483-96647533	H1-hESC	embryonic stem cell:	embryo
4	chr7:96647483-96647533	AG10803	skin:	n/a
5	chr7:96647483-96647533	GM06990	blood:	n/a
6	chr7:96647483-96647533	BE2_C	brain:	n/a
7	chr7:96647483-96647533	HRE	kidney:	n/a
8	chr7:96647483-96647533	PFSK-1	brain:	n/a
9	chr7:96647483-96647533	Jurkat	blood:	n/a
10	chr7:96647483-96647533	HCF	heart:	n/a
11	chr7:96647483-96647533	GM12892	blood:	n/a
12	chr7:96647483-96647533	ProgFib	skin:	n/a
13	chr7:96647483-96647533	SAEC	small airway:	n/a
14	chr7:96647483-96647533	HEEpiC	esophagus:	n/a
15	chr7:96647483-96647533	AG09309	skin:	n/a
16	chr7:96647483-96647533	CMK	blood:	n/a
17	chr7:96647483-96647533	ECC-1	luminal epithelium:	n/a
18	chr7:96647483-96647533	HPAEpiC	pulmonary alveolar:	n/a
19	chr7:96647483-96647533	HepG2	liver:	n/a
20	chr7:96647483-96647533	BJ	skin:	n/a
21	chr7:96647483-96647533	HL-60	blood:	n/a
22	chr7:96647483-96647533	Hepatocyte	liver:	n/a
23	chr7:96647483-96647533	AoSMC	blood vessel:	n/a
24	chr7:96647483-96647533	RPTEC	kidney:	n/a
25	chr7:96647483-96647533	MCF10A-Er-Src	breast:	n/a
26	chr7:96647483-96647533	HCPEpiC	choroid plexus:	n/a
27	chr7:96647483-96647533	HUVEC	blood vessel:	n/a
28	chr7:96647483-96647533	NT2-D1	testis:	n/a
29	chr7:96647483-96647533	HNPCEpiC	eye:	n/a
30	chr7:96647483-96647533	HEK293	kidney:	embryo
31	chr7:96647483-96647533	NB4	blood:	n/a
32	chr7:96647483-96647533	HRCEpiC	kidney:	n/a
33	chr7:96647483-96647533	Caco-2	colon:	n/a
34	chr7:96647483-96647533	NHDF-neo	bronchial:	n/a
35	chr7:96647483-96647533	HRPEpiC	eye:	n/a
36	chr7:96647483-96647533	AG04450	lung:	fetal
37	chr7:96647483-96647533	U87	brain:	n/a
38	chr7:96647483-96647533	PANC-1	pancreas:	n/a
39	chr7:96647483-96647533	HCT-116	colon:	n/a
40	chr7:96647483-96647533	HMEC	breast:	n/a
41	chr7:96647483-96647533	MCF-7	breast:	n/a
42	chr7:96647483-96647533	A549	lung:	n/a
43	chr7:96647483-96647533	AG09319	gingival:	n/a
44	chr7:96647483-96647533	HIPEpiC	eye:	n/a
45	chr7:96647483-96647533	NH-A	brain:	n/a
46	chr7:96647483-96647533	GM19239	blood:	n/a
47	chr7:96647483-96647533	LNCaP	prostate:	n/a
48	chr7:96647483-96647533	K562	blood:	n/a
49	chr7:96647483-96647533	SK-N-SH_RA	brain:	n/a
50	chr7:96647483-96647533	T-47D	breast:	n/a

Variant related genes	Relation type
DLX6-AS1	TF binding region
DLX6-AS1	CpG island

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv824221	chr7:96620279-96669211	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv3337466	chr7:96647166-96649364	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:96644600-96648200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:96645200-96647800	Flanking Active TSS	Osteobl	bone
3	chr7:96645200-96651600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr7:96645400-96648400	Bivalent Enhancer	Fetal Brain Male	brain
5	chr7:96645600-96647800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr7:96645600-96647800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
7	chr7:96645600-96647800	Bivalent Enhancer	Fetal Stomach	stomach
8	chr7:96645600-96647800	Bivalent Enhancer	Stomach Smooth Muscle	stomach
9	chr7:96645600-96648200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
10	chr7:96645800-96648200	Bivalent Enhancer	Fetal Muscle Leg	muscle
11	chr7:96646200-96647800	Bivalent Enhancer	Psoas Muscle	Psoas
12	chr7:96646400-96647600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr7:96646400-96648000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
14	chr7:96646400-96648000	Bivalent Enhancer	Esophagus	oesophagus
15	chr7:96646600-96647600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr7:96646600-96647600	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
17	chr7:96646600-96647800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr7:96646600-96648000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
19	chr7:96646600-96648000	Bivalent Enhancer	Adipose Nuclei	Adipose
20	chr7:96646600-96648000	Enhancers	Right Atrium	heart
21	chr7:96646600-96648200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr7:96646800-96647600	Bivalent Enhancer	Brain Hippocampus Middle	brain
23	chr7:96646800-96647800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr7:96646800-96647800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr7:96646800-96648000	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr7:96646800-96648000	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr7:96646800-96648000	Bivalent Enhancer	Right Ventricle	heart
28	chr7:96647000-96647600	Bivalent Enhancer	Brain Cingulate Gyrus	brain
29	chr7:96647000-96650200	Bivalent/Poised TSS	Fetal Brain Female	brain
30	chr7:96647000-96655200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
31	chr7:96647200-96647800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
32	chr7:96647200-96647800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
33	chr7:96647200-96647800	Enhancers	HepG2	liver
34	chr7:96647400-96647600	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr7:96647400-96647600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
36	chr7:96647400-96647600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
37	chr7:96647400-96647600	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
38	chr7:96647400-96647600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
39	chr7:96647400-96647600	Flanking Bivalent TSS/Enh	Brain Anterior Caudate	brain
40	chr7:96647400-96647600	Flanking Bivalent TSS/Enh	Brain Substantia Nigra	brain
41	chr7:96647400-96647600	Flanking Bivalent TSS/Enh	Colon Smooth Muscle	Colon
42	chr7:96647400-96647600	Bivalent Enhancer	Fetal Kidney	kidney
43	chr7:96647400-96647600	Enhancers	Pancreas	Pancrea
44	chr7:96647400-96647600	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
45	chr7:96647400-96647600	Bivalent/Poised TSS	Spleen	Spleen
46	chr7:96647400-96647600	Bivalent/Poised TSS	HSMMtube	muscle
47	chr7:96647400-96647600	Flanking Bivalent TSS/Enh	NHEK	skin
48	chr7:96647400-96647800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
49	chr7:96647400-96648000	Bivalent Enhancer	Liver	Liver
50	chr7:96647400-96648000	Bivalent/Poised TSS	HSMM	muscle

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