Variant report

Variant	rs2069446
Chromosome Location	chr7:150754509-150754510
allele	C/T
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	POLR2A	chr7:150754493-150760694	K562	blood:	n/a	n/a
2	CREB1	chr7:150754483-150756028	K562	blood:	n/a	n/a
3	SREBP1	chr7:150754410-150757606	GM12878	blood:	n/a	n/a
4	NR2F2	chr7:150753155-150758025	K562	blood:	n/a	n/a
5	MXI1	chr7:150754410-150760844	IMR90	lung:	n/a	chr7:150759550-150759559 chr7:150759552-150759561 chr7:150760584-150760593 chr7:150759552-150759561
6	POLR2A	chr7:150754086-150757415	HepG2	liver:	n/a	n/a
7	SIN3A	chr7:150753793-150756399	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr7:150754259-150757131	Raji	blood:	n/a	n/a
9	GABPA	chr7:150754454-150755792	K562	blood:	n/a	n/a
10	ELF1	chr7:150754482-150755883	GM12878	blood:	n/a	n/a
11	TEAD4	chr7:150754482-150758469	K562	blood:	n/a	n/a
12	SPI1	chr7:150754507-150754742	K562	blood:	n/a	n/a
13	SRF	chr7:150754508-150755943	HCT-116	colon:	n/a	n/a
14	MAZ	chr7:150753782-150759140	IMR90	lung:	n/a	chr7:150756001-150756008 chr7:150755999-150756012 chr7:150755999-150756012 chr7:150757089-150757099 chr7:150758470-150758480 chr7:150755996-150756015 chr7:150756003-150756010
15	MAX	chr7:150754457-150756361	A549	lung:	n/a	chr7:150756001-150756008 chr7:150755999-150756012 chr7:150755999-150756012 chr7:150755996-150756015 chr7:150756003-150756010
16	THAP1	chr7:150754497-150754830	K562	blood:	n/a	n/a
17	SPI1	chr7:150754464-150754873	HL-60	blood:	n/a	n/a
18	ZBTB7A	chr7:150753716-150756145	K562	blood:	n/a	n/a
19	ZBTB7A	chr7:150754318-150755921	K562	blood:	n/a	n/a
20	HCFC1	chr7:150754327-150756301	Hela-S3	cervix:	n/a	n/a
21	SMARCB1	chr7:150754280-150755931	Hela-S3	cervix:	n/a	n/a
22	REST	chr7:150754443-150755928	H1-neurons	neurons:	n/a	chr7:150755872-150755880 chr7:150755847-150755860
23	JUN	chr7:150752692-150760841	K562	blood:	n/a	chr7:150756021-150756033 chr7:150757173-150757182
24	MAX	chr7:150754444-150760310	HCT-116	colon:	n/a	chr7:150759551-150759560 chr7:150759519-150759526 chr7:150756001-150756008 chr7:150755999-150756012 chr7:150755999-150756012 chr7:150759549-150759558 chr7:150759518-150759527 chr7:150759551-150759560 chr7:150759517-150759527 chr7:150757089-150757099 chr7:150759551-150759560 chr7:150759659-150759668 chr7:150759658-150759669 chr7:150759551-150759561 chr7:150758470-150758480 chr7:150755996-150756015 chr7:150756003-150756010

No.	Distal block	Cell Line	Cell type
1	chr7:150725565..150726404-chr7:150753483..150754857,4	MCF-7	breast:
2	chr7:150652621..150654850-chr7:150754233..150756879,2	MCF-7	breast:
3	chr17:57913545..57916042-chr7:150753031..150754907,2	MCF-7	breast:

Variant related genes	Relation type
SLC4A2	TF binding region
CDK5	TF binding region
ENSG00000197150	Chromatin interaction
ENSG00000062716	Chromatin interaction
ENSG00000055118	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11977913	1.00[AMR][1000 genomes]
rs11979696	1.00[AMR][1000 genomes]
rs11983213	1.00[AMR][1000 genomes]
rs11983731	1.00[AMR][1000 genomes]
rs34158168	1.00[AMR][1000 genomes]
rs3918198	1.00[AMR][1000 genomes]
rs61652080	1.00[AMR][1000 genomes]
rs73472561	1.00[AMR][1000 genomes]
rs7776461	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 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	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
4	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
5	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
6	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
7	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
8	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
9	nsv889476	chr7:150729212-150951819	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	120 gene(s)	inside rSNPs	diseases
10	nsv1031733	chr7:150730999-150790517	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
11	nsv524928	chr7:150731698-150766799	Genic enhancers Bivalent Enhancer Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
12	nsv889477	chr7:150731698-150837529	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
13	nsv889478	chr7:150732812-150889527	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
14	nsv831188	chr7:150735204-150912875	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
15	nsv889479	chr7:150736382-150785321	Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
16	nsv889480	chr7:150736382-150797581	Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
17	nsv1028023	chr7:150738624-150790517	Strong transcription Genic enhancers Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
18	nsv465214	chr7:150751590-150822192	Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
19	nsv609012	chr7:150751590-150822192	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
20	nsv609013	chr7:150751590-150832913	Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150753400-150754600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
2	chr7:150753400-150754600	Flanking Active TSS	Fetal Brain Female	brain
3	chr7:150753400-150754800	Flanking Active TSS	K562	blood
4	chr7:150753600-150754600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
5	chr7:150753600-150754600	Flanking Active TSS	Brain Germinal Matrix	brain
6	chr7:150753800-150754600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
7	chr7:150753800-150754600	Flanking Active TSS	Brain Anterior Caudate	brain
8	chr7:150753800-150754600	Flanking Active TSS	Brain Hippocampus Middle	brain
9	chr7:150753800-150754800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:150753800-150754800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr7:150753800-150754800	Flanking Active TSS	NHEK	skin
12	chr7:150753800-150755000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
13	chr7:150753800-150755000	Flanking Active TSS	Stomach Smooth Muscle	stomach
14	chr7:150754000-150754600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr7:150754000-150754600	Flanking Active TSS	Fetal Intestine Small	intestine
16	chr7:150754000-150754600	Enhancers	Sigmoid Colon	Sigmoid Colon
17	chr7:150754000-150754600	Flanking Active TSS	GM12878-XiMat	blood
18	chr7:150754000-150754600	Flanking Active TSS	NHLF	lung
19	chr7:150754000-150754800	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr7:150754000-150754800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr7:150754000-150754800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr7:150754000-150754800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
23	chr7:150754000-150754800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
24	chr7:150754000-150754800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr7:150754000-150754800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr7:150754000-150754800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr7:150754000-150754800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr7:150754000-150754800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr7:150754000-150754800	Flanking Active TSS	Brain Angular Gyrus	brain
30	chr7:150754000-150754800	Flanking Active TSS	Brain Cingulate Gyrus	brain
31	chr7:150754000-150754800	Flanking Active TSS	Colonic Mucosa	Colon
32	chr7:150754000-150754800	Flanking Active TSS	Duodenum Mucosa	Duodenum
33	chr7:150754000-150754800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
34	chr7:150754000-150754800	Flanking Active TSS	Placenta	Placenta
35	chr7:150754000-150754800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
36	chr7:150754000-150754800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
37	chr7:150754000-150754800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
38	chr7:150754000-150754800	Flanking Active TSS	Dnd41	blood
39	chr7:150754000-150754800	Flanking Active TSS	Hela-S3	cervix
40	chr7:150754000-150754800	Flanking Active TSS	HMEC	breast
41	chr7:150754000-150754800	Flanking Active TSS	HSMMtube	muscle
42	chr7:150754000-150754800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
43	chr7:150754000-150755000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
44	chr7:150754000-150755400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr7:150754000-150755600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr7:150754000-150755600	Active TSS	A549	lung
47	chr7:150754000-150756600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
48	chr7:150754000-150756600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr7:150754200-150754600	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr7:150754200-150754600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived

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