Variant report

Variant	rs1835428
Chromosome Location	chr7:150715817-150715818
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:73)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:73 , 50 per page) page: 1 2

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	E2F6	chr7:150715609-150715887	K562	blood:	n/a	n/a
3	YY1	chr7:150715598-150716215	ECC-1	luminal epithelium:	n/a	n/a
4	TEAD4	chr7:150715208-150716071	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr7:150715641-150715823	GM12891	blood:	n/a	n/a
6	MAX	chr7:150715028-150716275	HepG2	liver:	n/a	chr7:150715178-150715187
7	TCF12	chr7:150715323-150716355	ECC-1	luminal epithelium:	n/a	n/a
8	TCF3	chr7:150715650-150716079	GM12878	blood:	n/a	n/a
9	USF1	chr7:150715533-150716270	ECC-1	luminal epithelium:	n/a	n/a
10	USF1	chr7:150715324-150716306	ECC-1	luminal epithelium:	n/a	n/a
11	MAX	chr7:150715337-150715836	A549	lung:	n/a	n/a
12	MAX	chr7:150715301-150716203	HUVEC	blood vessel:	n/a	n/a
13	MAX	chr7:150715116-150715932	MCF-7	breast:	n/a	chr7:150715178-150715187
14	NRF1	chr7:150715680-150716029	H1-hESC	embryonic stem cell:	n/a	n/a
15	MAX	chr7:150715188-150715889	SK-N-SH	brain:	n/a	n/a
16	E2F6	chr7:150714876-150716679	H1-hESC	embryonic stem cell:	n/a	chr7:150716654-150716668 chr7:150716651-150716665
17	SIN3A	chr7:150715254-150716221	H1-hESC	embryonic stem cell:	n/a	n/a
18	GTF2F1	chr7:150715279-150716345	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr7:150714992-150715842	HCT-116	colon:	n/a	n/a
20	MAX	chr7:150714700-150716853	H1-hESC	embryonic stem cell:	n/a	chr7:150715178-150715187
21	MAX	chr7:150715181-150716035	A549	lung:	n/a	n/a
22	MYC	chr7:150715266-150716155	H1-hESC	embryonic stem cell:	n/a	n/a
23	MAX	chr7:150714272-150716135	K562	blood:	n/a	chr7:150715178-150715187
24	CTCF	chr7:150714502-150715903	A549	lung:	n/a	chr7:150714633-150714646 chr7:150714664-150714673
25	E2F6	chr7:150714725-150715884	K562	blood:	n/a	n/a
26	POLR2A	chr7:150713752-150715829	K562	blood:	n/a	n/a
27	HMGN3	chr7:150714855-150716160	K562	blood:	n/a	n/a
28	MAX	chr7:150715268-150716145	GM12878	blood:	n/a	n/a
29	POLR2A	chr7:150715340-150716286	H1-neurons	neurons:	n/a	n/a
30	BHLHE40	chr7:150715301-150715905	GM12878	blood:	n/a	n/a
31	MXI1	chr7:150714036-150715907	SK-N-SH	brain:	n/a	n/a
32	CTCF	chr7:150715681-150715878	Spleen_OC	spleen:	n/a	n/a
33	YY1	chr7:150715280-150715929	H1-hESC	embryonic stem cell:	n/a	n/a
34	JUN	chr7:150714458-150715922	K562	blood:	n/a	n/a
35	E2F6	chr7:150715327-150715936	A549	lung:	n/a	n/a
36	CTCF	chr7:150713980-150716369	SK-N-SH	brain:	n/a	chr7:150714633-150714646 chr7:150714664-150714673
37	GABPA	chr7:150715187-150716160	H1-hESC	embryonic stem cell:	n/a	n/a
38	MXI1	chr7:150715287-150716171	H1-hESC	embryonic stem cell:	n/a	n/a
39	CTCF	chr7:150715780-150715930	GM12864	blood:	n/a	n/a
40	TCF12	chr7:150715555-150716019	H1-hESC	embryonic stem cell:	n/a	n/a
41	YY1	chr7:150715191-150715955	H1-hESC	embryonic stem cell:	n/a	n/a
42	MAX	chr7:150715116-150716276	HepG2	liver:	n/a	chr7:150715178-150715187
43	USF1	chr7:150715315-150716244	H1-hESC	embryonic stem cell:	n/a	n/a
44	MAX	chr7:150715161-150716530	ECC-1	luminal epithelium:	n/a	chr7:150715178-150715187
45	ZBTB7A	chr7:150715179-150715909	ECC-1	luminal epithelium:	n/a	n/a
46	MXI1	chr7:150715225-150716270	IMR90	lung:	n/a	n/a
47	MAX	chr7:150715295-150716166	H1-hESC	embryonic stem cell:	n/a	n/a
48	TEAD4	chr7:150715699-150716274	ECC-1	luminal epithelium:	n/a	n/a
49	ELF1	chr7:150715219-150715919	K562	blood:	n/a	n/a
50	E2F6	chr7:150714956-150716590	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:150708483..150712186-chr7:150712647..150718557,9	MCF-7	breast:
2	chr7:150705619..150708029-chr7:150714028..150715967,2	MCF-7	breast:
3	chr7:150663039..150663716-chr7:150714870..150715859,2	K562	blood:
4	chr7:150713297..150718122-chr7:150719622..150723511,6	MCF-7	breast:
5	chr7:150686266..150688164-chr7:150713918..150716520,2	MCF-7	breast:
6	chr7:150713283..150718085-chr7:150719345..150725201,8	MCF-7	breast:
7	chr7:150705881..150707323-chr7:150714964..150716387,6	K562	blood:
8	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: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs6464119	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]

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:113 , 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	chr7:150714400-150716000	Flanking Bivalent TSS/Enh	HepG2	liver
3	chr7:150714600-150716200	Bivalent Enhancer	Fetal Brain Male	brain
4	chr7:150714600-150716400	Enhancers	Lung	lung
5	chr7:150714600-150716600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
6	chr7:150714600-150716600	Bivalent Enhancer	Stomach Mucosa	stomach
7	chr7:150714600-150717000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
8	chr7:150714800-150716400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
9	chr7:150714800-150716400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
10	chr7:150715000-150716000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr7:150715000-150716200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
12	chr7:150715000-150716200	Enhancers	Left Ventricle	heart
13	chr7:150715000-150716200	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
14	chr7:150715000-150716400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
15	chr7:150715000-150716400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
16	chr7:150715000-150716400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
17	chr7:150715000-150716400	Flanking Active TSS	Primary hematopoietic stem cells	blood
18	chr7:150715000-150716400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr7:150715000-150716400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr7:150715000-150716400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr7:150715000-150716400	Enhancers	Liver	Liver
22	chr7:150715000-150716400	Enhancers	Ovary	ovary
23	chr7:150715000-150716400	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
24	chr7:150715000-150716400	Flanking Bivalent TSS/Enh	Thymus	Thymus
25	chr7:150715000-150716400	Flanking Bivalent TSS/Enh	HMEC	breast
26	chr7:150715000-150716600	Bivalent Enhancer	Fetal Lung	lung
27	chr7:150715000-150716800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
28	chr7:150715200-150716000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr7:150715200-150716000	Transcr. at gene 5' and 3'	Right Atrium	heart
30	chr7:150715200-150716200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
31	chr7:150715200-150716200	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr7:150715200-150716200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
33	chr7:150715200-150716200	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
34	chr7:150715200-150716200	Flanking Active TSS	Gastric	stomach
35	chr7:150715200-150716200	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
36	chr7:150715200-150716200	Bivalent/Poised TSS	Osteobl	bone
37	chr7:150715200-150716400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
38	chr7:150715200-150716400	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
39	chr7:150715200-150716400	Bivalent/Poised TSS	Fetal Brain Female	brain
40	chr7:150715200-150716400	Flanking Active TSS	Right Ventricle	heart
41	chr7:150715400-150716000	Active TSS	Brain Angular Gyrus	brain
42	chr7:150715400-150716000	Flanking Bivalent TSS/Enh	Esophagus	oesophagus
43	chr7:150715400-150716000	Bivalent Enhancer	Small Intestine	intestine
44	chr7:150715400-150716200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr7:150715400-150716200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
46	chr7:150715400-150716200	Bivalent/Poised TSS	HSMM	muscle
47	chr7:150715400-150716400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr7:150715400-150716400	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
49	chr7:150715400-150716600	Bivalent Enhancer	Fetal Intestine Large	intestine
50	chr7:150715600-150716000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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