Variant report

Variant	rs144487907
Chromosome Location	chr7:150716131-150716132
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:48)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:48 , 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	YY1	chr7:150715598-150716215	ECC-1	luminal epithelium:	n/a	n/a
3	MAX	chr7:150715028-150716275	HepG2	liver:	n/a	chr7:150715178-150715187
4	TCF12	chr7:150715323-150716355	ECC-1	luminal epithelium:	n/a	n/a
5	USF1	chr7:150715533-150716270	ECC-1	luminal epithelium:	n/a	n/a
6	USF1	chr7:150715324-150716306	ECC-1	luminal epithelium:	n/a	n/a
7	CTCF	chr7:150716100-150716250	HRE	kidney:	n/a	n/a
8	ZBTB7A	chr7:150715949-150716361	ECC-1	luminal epithelium:	n/a	n/a
9	MAX	chr7:150715301-150716203	HUVEC	blood vessel:	n/a	n/a
10	REST	chr7:150715877-150716547	ECC-1	luminal epithelium:	n/a	n/a
11	E2F6	chr7:150714876-150716679	H1-hESC	embryonic stem cell:	n/a	chr7:150716654-150716668 chr7:150716651-150716665
12	ELF1	chr7:150716044-150716460	GM12878	blood:	n/a	n/a
13	CTCF	chr7:150716120-150716270	BJ	skin:	n/a	n/a
14	SIN3A	chr7:150715254-150716221	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr7:150716020-150716170	HUVEC	blood vessel:	n/a	n/a
16	ELF1	chr7:150716055-150716385	K562	blood:	n/a	n/a
17	GTF2F1	chr7:150715279-150716345	H1-hESC	embryonic stem cell:	n/a	n/a
18	MAX	chr7:150714700-150716853	H1-hESC	embryonic stem cell:	n/a	chr7:150715178-150715187
19	MYC	chr7:150715266-150716155	H1-hESC	embryonic stem cell:	n/a	n/a
20	MAX	chr7:150714272-150716135	K562	blood:	n/a	chr7:150715178-150715187
21	CTCF	chr7:150716000-150716150	SAEC	small airway:	n/a	n/a
22	CTCF	chr7:150716100-150716250	AG04449	skin:	n/a	n/a
23	HMGN3	chr7:150714855-150716160	K562	blood:	n/a	n/a
24	MAX	chr7:150715268-150716145	GM12878	blood:	n/a	n/a
25	POLR2A	chr7:150715340-150716286	H1-neurons	neurons:	n/a	n/a
26	CTCF	chr7:150716040-150716190	SAEC	small airway:	n/a	n/a
27	CTCF	chr7:150713980-150716369	SK-N-SH	brain:	n/a	chr7:150714633-150714646 chr7:150714664-150714673
28	GABPA	chr7:150715187-150716160	H1-hESC	embryonic stem cell:	n/a	n/a
29	MXI1	chr7:150715287-150716171	H1-hESC	embryonic stem cell:	n/a	n/a
30	REST	chr7:150715963-150716268	ECC-1	luminal epithelium:	n/a	n/a
31	MAX	chr7:150715116-150716276	HepG2	liver:	n/a	chr7:150715178-150715187
32	USF1	chr7:150715315-150716244	H1-hESC	embryonic stem cell:	n/a	n/a
33	MAX	chr7:150715161-150716530	ECC-1	luminal epithelium:	n/a	chr7:150715178-150715187
34	MXI1	chr7:150715225-150716270	IMR90	lung:	n/a	n/a
35	MAX	chr7:150715295-150716166	H1-hESC	embryonic stem cell:	n/a	n/a
36	TEAD4	chr7:150715699-150716274	ECC-1	luminal epithelium:	n/a	n/a
37	E2F6	chr7:150714956-150716590	H1-hESC	embryonic stem cell:	n/a	n/a
38	TCF12	chr7:150715186-150716406	ECC-1	luminal epithelium:	n/a	n/a
39	CREB1	chr7:150715166-150716220	H1-hESC	embryonic stem cell:	n/a	n/a
40	TEAD4	chr7:150715802-150716313	ECC-1	luminal epithelium:	n/a	n/a
41	USF2	chr7:150715355-150716165	H1-hESC	embryonic stem cell:	n/a	n/a
42	MAX	chr7:150715204-150716436	ECC-1	luminal epithelium:	n/a	n/a
43	MAX	chr7:150714884-150716877	H1-hESC	embryonic stem cell:	n/a	chr7:150715178-150715187
44	CTCF	chr7:150716080-150716230	GM12866	blood:	n/a	n/a
45	SMC3	chr7:150714552-150716258	SK-N-SH	brain:	n/a	n/a
46	CTCF	chr7:150716020-150716170	HMEC	breast:	n/a	n/a
47	MAX	chr7:150715077-150716191	A549	lung:	n/a	chr7:150715178-150715187
48	NFIC	chr7:150715680-150716441	ECC-1	luminal epithelium:	n/a	n/a

No data

(count:5 , 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:
5	chr7:150705881..150707323-chr7:150714964..150716387,6	K562	blood:

No data

Variant related genes	Relation type
ATG9B	TF binding region
ENSG00000164867	Chromatin interaction
ENSG00000181652	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:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150711600-150716800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
2	chr7:150714600-150716200	Bivalent Enhancer	Fetal Brain Male	brain
3	chr7:150714600-150716400	Enhancers	Lung	lung
4	chr7:150714600-150716600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
5	chr7:150714600-150716600	Bivalent Enhancer	Stomach Mucosa	stomach
6	chr7:150714600-150717000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
7	chr7:150714800-150716400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
8	chr7:150714800-150716400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
9	chr7:150715000-150716200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
10	chr7:150715000-150716200	Enhancers	Left Ventricle	heart
11	chr7:150715000-150716200	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
12	chr7:150715000-150716400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
13	chr7:150715000-150716400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
14	chr7:150715000-150716400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
15	chr7:150715000-150716400	Flanking Active TSS	Primary hematopoietic stem cells	blood
16	chr7:150715000-150716400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr7:150715000-150716400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr7:150715000-150716400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr7:150715000-150716400	Enhancers	Liver	Liver
20	chr7:150715000-150716400	Enhancers	Ovary	ovary
21	chr7:150715000-150716400	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
22	chr7:150715000-150716400	Flanking Bivalent TSS/Enh	Thymus	Thymus
23	chr7:150715000-150716400	Flanking Bivalent TSS/Enh	HMEC	breast
24	chr7:150715000-150716600	Bivalent Enhancer	Fetal Lung	lung
25	chr7:150715000-150716800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
26	chr7:150715200-150716200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
27	chr7:150715200-150716200	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr7:150715200-150716200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
29	chr7:150715200-150716200	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
30	chr7:150715200-150716200	Flanking Active TSS	Gastric	stomach
31	chr7:150715200-150716200	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
32	chr7:150715200-150716200	Bivalent/Poised TSS	Osteobl	bone
33	chr7:150715200-150716400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
34	chr7:150715200-150716400	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
35	chr7:150715200-150716400	Bivalent/Poised TSS	Fetal Brain Female	brain
36	chr7:150715200-150716400	Flanking Active TSS	Right Ventricle	heart
37	chr7:150715400-150716200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr7:150715400-150716200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
39	chr7:150715400-150716200	Bivalent/Poised TSS	HSMM	muscle
40	chr7:150715400-150716400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr7:150715400-150716400	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
42	chr7:150715400-150716600	Bivalent Enhancer	Fetal Intestine Large	intestine
43	chr7:150715600-150716200	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr7:150715600-150716400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr7:150715600-150716400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr7:150715600-150716400	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
47	chr7:150715600-150716600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr7:150715600-150716800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr7:150715600-150718800	Enhancers	Fetal Heart	heart
50	chr7:150715600-150718800	Enhancers	Placenta Amnion	Placenta Amnion

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