Variant report

Variant	rs556780378
Chromosome Location	chr7:150716404-150716405
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFIC	chr7:150715640-150716470	ECC-1	luminal epithelium:	n/a	n/a
2	REST	chr7:150715877-150716547	ECC-1	luminal epithelium:	n/a	n/a
3	E2F6	chr7:150714876-150716679	H1-hESC	embryonic stem cell:	n/a	chr7:150716654-150716668 chr7:150716651-150716665
4	ELF1	chr7:150716044-150716460	GM12878	blood:	n/a	n/a
5	MAX	chr7:150714700-150716853	H1-hESC	embryonic stem cell:	n/a	chr7:150715178-150715187
6	MAX	chr7:150715161-150716530	ECC-1	luminal epithelium:	n/a	chr7:150715178-150715187
7	E2F6	chr7:150714956-150716590	H1-hESC	embryonic stem cell:	n/a	n/a
8	TCF12	chr7:150715186-150716406	ECC-1	luminal epithelium:	n/a	n/a
9	MAX	chr7:150715204-150716436	ECC-1	luminal epithelium:	n/a	n/a
10	MAX	chr7:150714884-150716877	H1-hESC	embryonic stem cell:	n/a	chr7:150715178-150715187
11	NFIC	chr7:150715680-150716441	ECC-1	luminal epithelium:	n/a	n/a
12	CTCF	chr7:150716400-150716550	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:150716366-150716416	AG04450	lung:	fetal
2	chr7:150716366-150716416	HCPEpiC	choroid plexus:	n/a
3	chr7:150716366-150716416	LNCaP	prostate:	n/a
4	chr7:150716366-150716416	HMEC	breast:	n/a
5	chr7:150716366-150716416	AG09319	gingival:	n/a
6	chr7:150716366-150716416	NT2-D1	testis:	n/a
7	chr7:150716366-150716416	ProgFib	skin:	n/a
8	chr7:150716366-150716416	HRPEpiC	eye:	n/a
9	chr7:150716366-150716416	BJ	skin:	n/a
10	chr7:150716366-150716416	NB4	blood:	n/a
11	chr7:150716366-150716416	PANC-1	pancreas:	n/a
12	chr7:150716366-150716416	RPTEC	kidney:	n/a
13	chr7:150716366-150716416	HNPCEpiC	eye:	n/a
14	chr7:150716366-150716416	SK-N-SH_RA	brain:	n/a
15	chr7:150716366-150716416	MCF10A-Er-Src	breast:	n/a
16	chr7:150716366-150716416	Hela-S3	cervix:	n/a
17	chr7:150716366-150716416	Jurkat	blood:	n/a
18	chr7:150716366-150716416	H1-hESC	embryonic stem cell:	embryo
19	chr7:150716366-150716416	GM06990	blood:	n/a
20	chr7:150716366-150716416	HCF	heart:	n/a
21	chr7:150716366-150716416	AG04449	skin:	fetal
22	chr7:150716366-150716416	ECC-1	luminal epithelium:	n/a
23	chr7:150716366-150716416	HPAEpiC	pulmonary alveolar:	n/a
24	chr7:150716366-150716416	NHDF-neo	bronchial:	n/a
25	chr7:150716366-150716416	NHBE	bronchial:	n/a
26	chr7:150716366-150716416	AoSMC	blood vessel:	n/a
27	chr7:150716366-150716416	NH-A	brain:	n/a
28	chr7:150716366-150716416	SK-N-MC	brain:	n/a
29	chr7:150716366-150716416	HAEpiC	amniotic membrane:	n/a
30	chr7:150716366-150716416	HCM	heart:	n/a
31	chr7:150716366-150716416	T-47D	breast:	n/a
32	chr7:150716366-150716416	HL-60	blood:	n/a
33	chr7:150716366-150716416	SK-N-SH	brain:	n/a
34	chr7:150716366-150716416	GM12878	blood:	n/a
35	chr7:150716366-150716416	IMR90	lung:	fetal
36	chr7:150716366-150716416	HEK293	kidney:	embryo
37	chr7:150716366-150716416	SKMC	muscle:	n/a
38	chr7:150716366-150716416	HEEpiC	esophagus:	n/a
39	chr7:150716366-150716416	HIPEpiC	eye:	n/a
40	chr7:150716366-150716416	MCF-7	breast:	n/a
41	chr7:150716366-150716416	Caco-2	colon:	n/a
42	chr7:150716366-150716416	SAEC	small airway:	n/a
43	chr7:150716366-150716416	GM19239	blood:	n/a
44	chr7:150716366-150716416	A549	lung:	n/a
45	chr7:150716366-150716416	HRCEpiC	kidney:	n/a
46	chr7:150716366-150716416	HCT-116	colon:	n/a
47	chr7:150716366-150716416	PrEC	prostate:	n/a
48	chr7:150716366-150716416	AG10803	skin:	n/a
49	chr7:150716366-150716416	K562	blood:	n/a
50	chr7:150716366-150716416	GM12892	blood:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr7:150708483..150712186-chr7:150712647..150718557,9	MCF-7	breast:
2	chr7:150713297..150718122-chr7:150719622..150723511,6	MCF-7	breast:
3	chr7:150686266..150688164-chr7:150713918..150716520,2	MCF-7	breast:
4	chr7:150713283..150718085-chr7:150719345..150725201,8	MCF-7	breast:

No data

Variant related genes	Relation type
ATG9B	TF binding region
ATG9B	CpG island
ENSG00000181652	Chromatin interaction
ENSG00000164867	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1821419	chr7:150593315-150974269	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	128 gene(s)	inside rSNPs	diseases
2	nsv1022246	chr7:150619660-150779924	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv889464	chr7:150640285-150723467	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv889465	chr7:150640285-150800823	Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
5	nsv1017863	chr7:150643928-150779924	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
6	nsv539197	chr7:150643928-150779924	Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
7	nsv1028645	chr7:150643928-150806534	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
8	nsv539198	chr7:150643928-150879259	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
9	nsv889467	chr7:150645534-150723467	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
10	nsv889469	chr7:150657209-150747746	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
11	nsv889471	chr7:150700946-150751590	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
12	nsv889474	chr7:150705842-150717153	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	esv3374736	chr7:150714644-150717192	Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
14	nsv526410	chr7:150714812-150775306	Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
15	esv3373696	chr7:150714969-150716967	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
16	esv3358756	chr7:150715069-150717867	Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS 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:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150711600-150716800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
2	chr7:150714600-150716600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
3	chr7:150714600-150716600	Bivalent Enhancer	Stomach Mucosa	stomach
4	chr7:150714600-150717000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
5	chr7:150715000-150716600	Bivalent Enhancer	Fetal Lung	lung
6	chr7:150715000-150716800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
7	chr7:150715400-150716600	Bivalent Enhancer	Fetal Intestine Large	intestine
8	chr7:150715600-150716600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr7:150715600-150716800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr7:150715600-150718800	Enhancers	Fetal Heart	heart
11	chr7:150715600-150718800	Enhancers	Placenta Amnion	Placenta Amnion
12	chr7:150715800-150716600	Bivalent Enhancer	Fetal Intestine Small	intestine
13	chr7:150715800-150716600	Bivalent Enhancer	Fetal Thymus	thymus
14	chr7:150715800-150716800	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr7:150715800-150717000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
16	chr7:150715800-150717200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr7:150715800-150717400	Bivalent Enhancer	Fetal Muscle Leg	muscle
18	chr7:150715800-150718000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
19	chr7:150715800-150718400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
20	chr7:150715800-150718600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:150715800-150721600	Weak transcription	A549	lung
22	chr7:150716000-150716600	Bivalent Enhancer	Primary B cells from cord blood	blood
23	chr7:150716000-150716600	Bivalent/Poised TSS	HepG2	liver
24	chr7:150716200-150716600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr7:150716200-150716600	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr7:150716200-150716600	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
27	chr7:150716200-150716600	Flanking Active TSS	Primary T cells from cord blood	blood
28	chr7:150716200-150716600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
29	chr7:150716200-150716600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
30	chr7:150716200-150716600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr7:150716200-150716600	Bivalent Enhancer	Colonic Mucosa	Colon
32	chr7:150716200-150716600	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
33	chr7:150716200-150716600	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
34	chr7:150716200-150716600	Enhancers	Spleen	Spleen
35	chr7:150716200-150716800	Enhancers	Primary T killer memory cells from peripheral blood	blood
36	chr7:150716200-150717600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr7:150716200-150717800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
38	chr7:150716200-150717800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr7:150716200-150718600	Bivalent Enhancer	Placenta	Placenta
40	chr7:150716200-150725000	Weak transcription	Right Atrium	heart
41	chr7:150716400-150716600	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
42	chr7:150716400-150716600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
43	chr7:150716400-150716600	Enhancers	Primary T helper cells PMA-I stimulated	--
44	chr7:150716400-150716600	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
45	chr7:150716400-150716600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr7:150716400-150716600	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr7:150716400-150716600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr7:150716400-150716600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr7:150716400-150716600	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
50	chr7:150716400-150716600	Bivalent Enhancer	Adipose Nuclei	Adipose

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