Variant report

Variant	rs201470938
Chromosome Location	chr7:150715296-150715297
allele	-/CAGACAGACCCTCCGCG
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:232)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:232 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr7:150715218-150715592	IMR90	lung:	n/a	n/a
2	EP300	chr7:150714907-150715542	K562	blood:	n/a	chr7:150715345-150715354
3	HEY1	chr7:150715197-150715577	K562	blood:	n/a	n/a
4	E2F4	chr7:150714887-150715743	K562	blood:	n/a	n/a
5	CTCF	chr7:150715273-150715551	Hela-S3	cervix:	n/a	n/a
6	ELF1	chr7:150715222-150715580	A549	lung:	n/a	n/a
7	RAD21	chr7:150715286-150715481	GM12878	blood:	n/a	n/a
8	CTCF	chr7:150715182-150715555	H1-hESC	embryonic stem cell:	n/a	n/a
9	TEAD4	chr7:150715208-150716071	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr7:150715079-150715575	GM19238	blood:	n/a	n/a
11	GATA2	chr7:150714809-150715534	SH-SY5Y	brain:	n/a	chr7:150715189-150715206
12	RUNX3	chr7:150715202-150715529	GM12878	blood:	n/a	n/a
13	FOSL1	chr7:150715210-150715586	H1-hESC	embryonic stem cell:	n/a	n/a
14	RFX5	chr7:150715276-150715462	Hela-S3	cervix:	n/a	n/a
15	RAD21	chr7:150715182-150715654	SK-N-SH_RA	brain:	n/a	n/a
16	CTCF	chr7:150715189-150715624	GM12878	blood:	n/a	n/a
17	CTCF	chr7:150714919-150715724	HCT-116	colon:	n/a	n/a
18	HDAC2	chr7:150715272-150715599	HepG2	liver:	n/a	n/a
19	RAD21	chr7:150715214-150715607	HepG2	liver:	n/a	n/a
20	CTCF	chr7:150715004-150715617	K562	blood:	n/a	n/a
21	ZBTB7A	chr7:150714906-150715681	K562	blood:	n/a	chr7:150715164-150715173
22	MAX	chr7:150715028-150716275	HepG2	liver:	n/a	chr7:150715178-150715187
23	PML	chr7:150714782-150715543	K562	blood:	n/a	n/a
24	MXI1	chr7:150714939-150715536	K562	blood:	n/a	n/a
25	POLR2A	chr7:150715160-150715794	SK-N-MC	brain:	n/a	n/a
26	FOXP2	chr7:150715250-150715639	PFSK-1	brain:	n/a	n/a
27	CTCF	chr7:150715292-150715535	GM20000	blood:	n/a	n/a
28	CTCF	chr7:150715284-150715533	MCF-7	breast:	n/a	n/a
29	YY1	chr7:150715264-150715541	A549	lung:	n/a	n/a
30	MYC	chr7:150714883-150715797	K562	blood:	n/a	chr7:150715178-150715187
31	ELK1	chr7:150714850-150715525	K562	blood:	n/a	n/a
32	SP2	chr7:150715276-150715447	K562	blood:	n/a	n/a
33	RAD21	chr7:150715246-150715599	K562	blood:	n/a	n/a
34	YY1	chr7:150715250-150715747	GM12878	blood:	n/a	n/a
35	RAD21	chr7:150715164-150715635	MCF-7	breast:	n/a	n/a
36	RAD21	chr7:150715246-150715562	HepG2	liver:	n/a	n/a
37	BCL3	chr7:150715018-150715482	A549	lung:	n/a	n/a
38	CTCF	chr7:150715257-150715561	MCF-7	breast:	n/a	n/a
39	CTCF	chr7:150715179-150715651	MCF-7	breast:	n/a	n/a
40	MAX	chr7:150715116-150715932	MCF-7	breast:	n/a	chr7:150715178-150715187
41	RAD21	chr7:150714013-150715788	SK-N-SH	brain:	n/a	n/a
42	MAX	chr7:150715188-150715889	SK-N-SH	brain:	n/a	n/a
43	POLR2A	chr7:150715248-150715705	HL-60	blood:	n/a	n/a
44	E2F6	chr7:150714876-150716679	H1-hESC	embryonic stem cell:	n/a	chr7:150716654-150716668 chr7:150716651-150716665
45	CTCF	chr7:150715290-150715504	ECC-1	luminal epithelium:	n/a	n/a
46	POLR2A	chr7:150715283-150715579	H1-hESC	embryonic stem cell:	n/a	n/a
47	SIN3A	chr7:150715254-150716221	H1-hESC	embryonic stem cell:	n/a	n/a
48	RAD21	chr7:150715237-150715605	H1-hESC	embryonic stem cell:	n/a	n/a
49	TCF12	chr7:150715284-150715664	H1-hESC	embryonic stem cell:	n/a	n/a
50	CTCF	chr7:150715231-150715563	SK-N-SH_RA	brain:	n/a	n/a

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:150475528..150476481-chr7:150715209..150715717,2	K562	blood:
2	chr7:150475548..150476095-chr7:150715046..150715683,2	MCF-7	breast:
3	chr7:150708483..150712186-chr7:150712647..150718557,9	MCF-7	breast:
4	chr7:150663098..150663704-chr7:150714962..150715654,2	MCF-7	breast:
5	chr7:150705619..150708029-chr7:150714028..150715967,2	MCF-7	breast:
6	chr7:150663039..150663716-chr7:150714870..150715859,2	K562	blood:
7	chr7:150659969..150660714-chr7:150715006..150715747,3	MCF-7	breast:
8	chr7:150713297..150718122-chr7:150719622..150723511,6	MCF-7	breast:
9	chr7:150661683..150662564-chr7:150714931..150715681,2	K562	blood:
10	chr7:150659964..150660756-chr7:150714935..150715624,4	K562	blood:
11	chr7:150686266..150688164-chr7:150713918..150716520,2	MCF-7	breast:
12	chr7:150713283..150718085-chr7:150719345..150725201,8	MCF-7	breast:
13	chr7:150705881..150707323-chr7:150714964..150716387,6	K562	blood:
14	chr7:150682825..150683700-chr7:150715137..150715857,2	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:117 , 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	chr7:150713200-150715600	Enhancers	Spleen	Spleen
3	chr7:150714200-150715800	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
4	chr7:150714400-150715800	Flanking Active TSS	Dnd41	blood
5	chr7:150714400-150716000	Flanking Bivalent TSS/Enh	HepG2	liver
6	chr7:150714600-150715400	Bivalent Enhancer	Fetal Muscle Leg	muscle
7	chr7:150714600-150715600	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr7:150714600-150715800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
9	chr7:150714600-150715800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
10	chr7:150714600-150715800	Flanking Active TSS	K562	blood
11	chr7:150714600-150716200	Bivalent Enhancer	Fetal Brain Male	brain
12	chr7:150714600-150716400	Enhancers	Lung	lung
13	chr7:150714600-150716600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
14	chr7:150714600-150716600	Bivalent Enhancer	Stomach Mucosa	stomach
15	chr7:150714600-150717000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
16	chr7:150714800-150715400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr7:150714800-150715400	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
18	chr7:150714800-150715600	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:150714800-150715600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr7:150714800-150715600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr7:150714800-150715600	Bivalent Enhancer	Fetal Intestine Small	intestine
22	chr7:150714800-150715800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
23	chr7:150714800-150715800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
24	chr7:150714800-150715800	Flanking Active TSS	Primary T cells from cord blood	blood
25	chr7:150714800-150715800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
26	chr7:150714800-150715800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
27	chr7:150714800-150715800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
28	chr7:150714800-150715800	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr7:150714800-150715800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr7:150714800-150715800	Enhancers	HUVEC	blood vessel
31	chr7:150714800-150716400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
32	chr7:150714800-150716400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
33	chr7:150715000-150715400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
34	chr7:150715000-150715400	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr7:150715000-150715400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr7:150715000-150715400	Flanking Active TSS	Brain Angular Gyrus	brain
37	chr7:150715000-150715400	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
38	chr7:150715000-150715400	Enhancers	GM12878-XiMat	blood
39	chr7:150715000-150715600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr7:150715000-150715600	Enhancers	Pancreas	Pancrea
41	chr7:150715000-150715600	Flanking Active TSS	A549	lung
42	chr7:150715000-150715800	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
43	chr7:150715000-150715800	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
44	chr7:150715000-150715800	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
45	chr7:150715000-150715800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
46	chr7:150715000-150715800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
47	chr7:150715000-150715800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr7:150715000-150715800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
49	chr7:150715000-150715800	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
50	chr7:150715000-150715800	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle

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