Variant report

Variant	rs150657360
Chromosome Location	chr7:97736092-97736093
allele	-/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	MAX	chr7:97735859-97736609	H1-hESC	embryonic stem cell:	n/a	chr7:97736174-97736183
2	FOXA2	chr7:97735876-97736446	A549	lung:	n/a	n/a
3	CTCF	chr7:97736060-97736210	HMEC	breast:	n/a	n/a
4	CCNT2	chr7:97735963-97736982	K562	blood:	n/a	chr7:97736789-97736798 chr7:97736640-97736649
5	TAF1	chr7:97735951-97736579	A549	lung:	n/a	n/a
6	TAF1	chr7:97736072-97736314	GM12891	blood:	n/a	n/a
7	POLR2A	chr7:97735967-97736639	GM18951	blood:	n/a	n/a
8	ATF2	chr7:97735863-97736282	GM12878	blood:	n/a	n/a
9	ATF3	chr7:97735940-97736387	H1-hESC	embryonic stem cell:	n/a	chr7:97736168-97736179 chr7:97736174-97736183 chr7:97736148-97736168 chr7:97736179-97736193
10	YY1	chr7:97735901-97736601	H1-hESC	embryonic stem cell:	n/a	chr7:97736179-97736201 chr7:97736191-97736201
11	BRCA1	chr7:97735889-97736315	Hela-S3	cervix:	n/a	n/a
12	RAD21	chr7:97735931-97736176	GM12878	blood:	n/a	chr7:97736051-97736061
13	JUN	chr7:97735982-97736317	K562	blood:	n/a	n/a
14	CTCF	chr7:97735980-97736130	GM12878	blood:	n/a	chr7:97736045-97736063 chr7:97736048-97736061
15	SIN3AK20	chr7:97735944-97736655	SK-N-SH	brain:	n/a	n/a
16	USF1	chr7:97735959-97736544	SK-N-SH_RA	brain:	n/a	chr7:97736172-97736183 chr7:97736049-97736065 chr7:97736460-97736476
17	RAD21	chr7:97735902-97736191	ECC-1	luminal epithelium:	n/a	chr7:97736051-97736061
18	ATF2	chr7:97735853-97736328	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr7:97735978-97736423	Hela-S3	cervix:	n/a	n/a
20	USF1	chr7:97735821-97736446	A549	lung:	n/a	chr7:97736172-97736183 chr7:97736049-97736065
21	MAX	chr7:97735955-97736736	HepG2	liver:	n/a	chr7:97736174-97736183
22	MAX	chr7:97735833-97736520	ECC-1	luminal epithelium:	n/a	chr7:97736174-97736183
23	CTCF	chr7:97735960-97736110	GM12865	blood:	n/a	chr7:97736045-97736063 chr7:97736048-97736061
24	JUND	chr7:97735669-97736305	H1-hESC	embryonic stem cell:	n/a	chr7:97735756-97735764
25	CTCF	chr7:97735980-97736130	HRE	kidney:	n/a	chr7:97736045-97736063 chr7:97736048-97736061
26	YY1	chr7:97735949-97736811	K562	blood:	n/a	chr7:97736741-97736752 chr7:97736650-97736661 chr7:97736801-97736810 chr7:97736179-97736201 chr7:97736191-97736201 chr7:97736789-97736800 chr7:97736616-97736627
27	CTCF	chr7:97735913-97736264	Kidney_OC	kidney:	n/a	chr7:97736045-97736063 chr7:97736048-97736061
28	SIN3AK20	chr7:97735977-97737038	K562	blood:	n/a	n/a
29	POLR2A	chr7:97736032-97736401	K562	blood:	n/a	n/a
30	PBX3	chr7:97735964-97736320	GM12878	blood:	n/a	chr7:97736129-97736149 chr7:97736142-97736151
31	TCF12	chr7:97735799-97736557	A549	lung:	n/a	chr7:97736025-97736035 chr7:97736319-97736326 chr7:97736234-97736244
32	CTCF	chr7:97735907-97736186	GM10248	blood:	n/a	chr7:97736045-97736063 chr7:97736048-97736061
33	POLR2A	chr7:97735905-97736735	H1-neurons	neurons:	n/a	n/a
34	HDAC2	chr7:97735811-97736771	MCF-7	breast:	n/a	chr7:97735884-97735898 chr7:97735882-97735896 chr7:97735886-97735900 chr7:97735883-97735897 chr7:97735885-97735899 chr7:97735889-97735903
35	ATF2	chr7:97735798-97736331	GM12878	blood:	n/a	n/a
36	CTCF	chr7:97735960-97736110	BJ	skin:	n/a	chr7:97736045-97736063 chr7:97736048-97736061
37	NFYB	chr7:97735943-97736268	Hela-S3	cervix:	n/a	n/a
38	ETS1	chr7:97735993-97736524	K562	blood:	n/a	n/a
39	RAD21	chr7:97735841-97736243	SK-N-SH_RA	brain:	n/a	chr7:97736051-97736061 chr7:97736228-97736241
40	POLR2A	chr7:97735857-97736463	MCF10A-Er-Src	breast:	n/a	n/a
41	MAX	chr7:97735929-97736308	A549	lung:	n/a	chr7:97736174-97736183
42	MYC	chr7:97736014-97736460	MCF-7	breast:	n/a	chr7:97736174-97736183
43	CTCF	chr7:97735738-97736451	HCT-116	colon:	n/a	chr7:97736045-97736063 chr7:97736048-97736061
44	REST	chr7:97736081-97736395	ECC-1	luminal epithelium:	n/a	n/a
45	MAX	chr7:97736008-97736579	HepG2	liver:	n/a	chr7:97736174-97736183
46	CREB1	chr7:97735864-97736543	ECC-1	luminal epithelium:	n/a	n/a
47	RAD21	chr7:97735856-97736486	IMR90	lung:	n/a	chr7:97736051-97736061 chr7:97736228-97736241
48	POLR2A	chr7:97735930-97736470	PFSK-1	brain:	n/a	n/a
49	PBX3	chr7:97735747-97736685	SK-N-SH	brain:	n/a	chr7:97736129-97736149 chr7:97736142-97736151
50	SIN3AK20	chr7:97735878-97736785	PANC-1	pancreas:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:97736046-97736096	HRCEpiC	kidney:	n/a
2	chr7:97736046-97736096	A549	lung:	n/a
3	chr7:97736046-97736096	AG09309	skin:	n/a
4	chr7:97736046-97736096	GM12892	blood:	n/a
5	chr7:97736046-97736096	CMK	blood:	n/a
6	chr7:97736046-97736096	AG10803	skin:	n/a
7	chr7:97736046-97736096	T-47D	breast:	n/a
8	chr7:97736046-97736096	HCM	heart:	n/a
9	chr7:97736046-97736096	Hepatocyte	liver:	n/a
10	chr7:97736046-97736096	HRPEpiC	eye:	n/a
11	chr7:97736046-97736096	MCF10A-Er-Src	breast:	n/a
12	chr7:97736046-97736096	BJ	skin:	n/a
13	chr7:97736046-97736096	HCF	heart:	n/a
14	chr7:97736046-97736096	SAEC	small airway:	n/a
15	chr7:97736046-97736096	AG04450	lung:	fetal
16	chr7:97736046-97736096	NT2-D1	testis:	n/a
17	chr7:97736046-97736096	PFSK-1	brain:	n/a
18	chr7:97736046-97736096	HEEpiC	esophagus:	n/a
19	chr7:97736046-97736096	HCPEpiC	choroid plexus:	n/a
20	chr7:97736046-97736096	ProgFib	skin:	n/a
21	chr7:97736046-97736096	Caco-2	colon:	n/a
22	chr7:97736046-97736096	HRE	kidney:	n/a
23	chr7:97736046-97736096	GM19239	blood:	n/a
24	chr7:97736046-97736096	GM12891	blood:	n/a
25	chr7:97736046-97736096	U87	brain:	n/a
26	chr7:97736046-97736096	HMEC	breast:	n/a
27	chr7:97736046-97736096	Jurkat	blood:	n/a
28	chr7:97736046-97736096	SK-N-SH	brain:	n/a
29	chr7:97736046-97736096	HepG2	liver:	n/a
30	chr7:97736046-97736096	GM12878	blood:	n/a
31	chr7:97736046-97736096	NHDF-neo	bronchial:	n/a
32	chr7:97736046-97736096	HIPEpiC	eye:	n/a
33	chr7:97736046-97736096	AG09319	gingival:	n/a
34	chr7:97736046-97736096	RPTEC	kidney:	n/a
35	chr7:97736046-97736096	SK-N-MC	brain:	n/a
36	chr7:97736046-97736096	GM06990	blood:	n/a
37	chr7:97736046-97736096	Hela-S3	cervix:	n/a
38	chr7:97736046-97736096	K562	blood:	n/a
39	chr7:97736046-97736096	PANC-1	pancreas:	n/a
40	chr7:97736046-97736096	AG04449	skin:	fetal
41	chr7:97736046-97736096	SKMC	muscle:	n/a
42	chr7:97736046-97736096	IMR90	lung:	fetal
43	chr7:97736046-97736096	HAEpiC	amniotic membrane:	n/a
44	chr7:97736046-97736096	LNCaP	prostate:	n/a
45	chr7:97736046-97736096	H1-hESC	embryonic stem cell:	embryo
46	chr7:97736046-97736096	HEK293	kidney:	embryo
47	chr7:97736046-97736096	NH-A	brain:	n/a
48	chr7:97736046-97736096	HL-60	blood:	n/a
49	chr7:97736046-97736096	HPAEpiC	pulmonary alveolar:	n/a
50	chr7:97736046-97736096	HUVEC	blood vessel:	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:13049394..13049962-chr7:97735896..97736709,2	Hela-S3	cervix:
2	chr7:97735652..97737286-chr7:97753750..97756683,2	MCF-7	breast:
3	chr20:48807269..48810011-chr7:97735604..97737144,2	MCF-7	breast:

Variant related genes	Relation type
LMTK2	TF binding region
LMTK2	CpG island
ENSG00000172216	Chromatin interaction
ENSG00000179218	Chromatin interaction
ENSG00000164715	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031371	chr7:97312452-98070538	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv3500384	chr7:97527787-98015382	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
3	esv3500386	chr7:97527787-98015382	Bivalent Enhancer Flanking Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
4	nsv1017481	chr7:97597641-98041043	Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
5	nsv539031	chr7:97597641-98041043	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
6	nsv1019531	chr7:97653880-98034129	Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv539032	chr7:97653880-98034129	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	esv1816676	chr7:97676259-97868033	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv831066	chr7:97726879-97890550	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	esv3411371	chr7:97735041-97737589	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	3 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	chr7:97735400-97736200	Enhancers	Primary T killer memory cells from peripheral blood	blood
2	chr7:97735400-97737400	Active TSS	Stomach Smooth Muscle	stomach
3	chr7:97735600-97736200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr7:97735600-97736200	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr7:97735600-97736200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr7:97735600-97736800	Active TSS	Brain Substantia Nigra	brain
7	chr7:97735600-97737000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr7:97735600-97737000	Active TSS	Rectal Smooth Muscle	rectum
9	chr7:97735600-97737200	Active TSS	Duodenum Smooth Muscle	Duodenum
10	chr7:97735600-97737400	Active TSS	Brain Germinal Matrix	brain
11	chr7:97735800-97736200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr7:97735800-97736200	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr7:97735800-97736200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr7:97735800-97736200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr7:97735800-97736200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr7:97735800-97736800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr7:97735800-97737000	Active TSS	Brain Hippocampus Middle	brain
18	chr7:97735800-97737200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr7:97735800-97737200	Active TSS	Esophagus	oesophagus
20	chr7:97735800-97737200	Active TSS	Fetal Kidney	kidney
21	chr7:97735800-97737400	Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr7:97735800-97737400	Active TSS	Skeletal Muscle Female	skeletal muscle
23	chr7:97735800-97737400	Active TSS	Thymus	Thymus
24	chr7:97735800-97738000	Active TSS	HUES64 Cell Line	embryonic stem cell
25	chr7:97735800-97738000	Active TSS	iPS-15b Cell Line	embryonic stem cell
26	chr7:97735800-97738000	Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr7:97735800-97738000	Active TSS	Brain Angular Gyrus	brain
28	chr7:97736000-97736200	Weak transcription	Primary T cells from cord blood	blood
29	chr7:97736000-97736200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
30	chr7:97736000-97736200	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
31	chr7:97736000-97736200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
32	chr7:97736000-97736200	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
33	chr7:97736000-97736200	Weak transcription	Fetal Intestine Large	intestine
34	chr7:97736000-97736200	Weak transcription	Fetal Intestine Small	intestine
35	chr7:97736000-97736200	Genic enhancers	Right Atrium	heart
36	chr7:97736000-97736200	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr7:97736000-97736200	Weak transcription	Stomach Mucosa	stomach
38	chr7:97736000-97736400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr7:97736000-97736400	Active TSS	Cortex derived primary cultured neurospheres	brain
40	chr7:97736000-97736400	Active TSS	HepG2	liver
41	chr7:97736000-97736600	Active TSS	Primary B cells from cord blood	blood
42	chr7:97736000-97736800	Active TSS	Primary monocytes fromperipheralblood	blood
43	chr7:97736000-97736800	Active TSS	Primary B cells from peripheral blood	blood
44	chr7:97736000-97736800	Active TSS	Primary T cells fromperipheralblood	blood
45	chr7:97736000-97736800	Active TSS	Primary hematopoietic stem cells	blood
46	chr7:97736000-97736800	Active TSS	Primary hematopoietic stem cells short term culture	blood
47	chr7:97736000-97736800	Active TSS	Primary T helper cells fromperipheralblood	blood
48	chr7:97736000-97736800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr7:97736000-97736800	Active TSS	Adipose Nuclei	Adipose
50	chr7:97736000-97736800	Active TSS	Fetal Adrenal Gland	Adrenal Gland

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