Variant report

Variant	rs7780015
Chromosome Location	chr7:117823208-117823209
allele	C/G
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	chr7:117823112-117824791	Raji	blood:	n/a	n/a
2	TEAD4	chr7:117823198-117824680	K562	blood:	n/a	n/a
3	POLR2A	chr7:117823198-117824625	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr7:117820845-117829160	K562	blood:	n/a	n/a
5	E2F4	chr7:117823195-117823395	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr7:117822940-117825104	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr7:117823158-117824413	GM12891	blood:	n/a	n/a
8	NR2F2	chr7:117822821-117824953	K562	blood:	n/a	n/a
9	POLR2A	chr7:117823110-117824715	GM12891	blood:	n/a	n/a
10	FOXM1	chr7:117823198-117824723	GM12878	blood:	n/a	n/a
11	POLR2A	chr7:117823192-117824597	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr7:117823045-117825212	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr7:117823125-117824906	K562	blood:	n/a	n/a
14	POLR2A	chr7:117823162-117824584	GM12891	blood:	n/a	n/a
15	POLR2A	chr7:117822666-117825971	K562	blood:	n/a	n/a
16	POLR2A	chr7:117823082-117824715	MCF-7	breast:	n/a	n/a
17	POLR2A	chr7:117823197-117824526	GM12891	blood:	n/a	n/a
18	MAFF	chr7:117822920-117823294	HepG2	liver:	n/a	chr7:117823097-117823115
19	BHLHE40	chr7:117822905-117824434	K562	blood:	n/a	n/a
20	POLR2A	chr7:117823196-117825049	HepG2	liver:	n/a	n/a
21	POLR2A	chr7:117822775-117825097	GM18505	blood:	n/a	n/a
22	POLR2A	chr7:117823199-117824628	K562	blood:	n/a	n/a
23	POLR2A	chr7:117823151-117825966	GM12878	blood:	n/a	n/a
24	MAFK	chr7:117822932-117823306	HepG2	liver:	n/a	chr7:117823099-117823114 chr7:117823099-117823110 chr7:117823098-117823112 chr7:117823100-117823111 chr7:117823100-117823111 chr7:117823099-117823110 chr7:117823099-117823115
25	HEY1	chr7:117823117-117824648	K562	blood:	n/a	n/a
26	POLR2A	chr7:117823008-117825019	GM12878	blood:	n/a	n/a
27	POLR2A	chr7:117823043-117824581	GM12878	blood:	n/a	n/a
28	POLR2A	chr7:117822010-117826055	GM12891	blood:	n/a	n/a
29	MAFK	chr7:117822920-117823361	IMR90	lung:	n/a	chr7:117823099-117823114 chr7:117823099-117823110 chr7:117823098-117823112 chr7:117823100-117823111 chr7:117823100-117823111 chr7:117823099-117823110 chr7:117823099-117823115
30	POLR2A	chr7:117823082-117825058	SK-N-MC	brain:	n/a	n/a
31	POLR2A	chr7:117823147-117824906	GM12892	blood:	n/a	n/a
32	MAFF	chr7:117822898-117824301	K562	blood:	n/a	chr7:117823097-117823115
33	PML	chr7:117823060-117824703	K562	blood:	n/a	n/a
34	IRF1	chr7:117822511-117825605	K562	blood:	n/a	chr7:117823522-117823535 chr7:117825228-117825244 chr7:117822936-117822950 chr7:117824214-117824228 chr7:117824218-117824232 chr7:117824218-117824228
35	POLR2A	chr7:117822992-117824817	GM15510	blood:	n/a	n/a
36	POLR2A	chr7:117822794-117825026	Hela-S3	cervix:	n/a	n/a
37	STAT3	chr7:117823136-117823319	MCF10A-Er-Src	breast:	n/a	n/a
38	POLR2A	chr7:117822512-117825871	GM12878	blood:	n/a	n/a
39	CHD2	chr7:117823203-117824903	GM12878	blood:	n/a	chr7:117824414-117824424
40	BHLHE40	chr7:117822866-117823280	GM12878	blood:	n/a	n/a
41	POLR2A	chr7:117823044-117824849	GM12892	blood:	n/a	n/a
42	POLR2A	chr7:117822872-117824700	K562	blood:	n/a	n/a
43	CHD1	chr7:117823167-117824401	GM12878	blood:	n/a	n/a
44	TEAD4	chr7:117823173-117824900	K562	blood:	n/a	n/a
45	POLR2A	chr7:117823182-117824653	K562	blood:	n/a	n/a
46	POLR2A	chr7:117823114-117824616	NB4	blood:	n/a	n/a
47	POLR2A	chr7:117823079-117825878	MCF10A-Er-Src	breast:	n/a	n/a
48	MAFK	chr7:117822758-117824432	GM12878	blood:	n/a	chr7:117823891-117823906 chr7:117823099-117823114 chr7:117823099-117823110 chr7:117823098-117823112 chr7:117823100-117823111 chr7:117823100-117823111 chr7:117823099-117823110 chr7:117823099-117823115
49	POLR2A	chr7:117823143-117824982	GM12892	blood:	n/a	n/a
50	POLR2A	chr7:117823140-117824868	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:117388690..117390929-chr7:117821238..117823244,2	MCF-7	breast:
2	chr5:149864249..149866469-chr7:117821128..117824020,2	MCF-7	breast:
3	chr7:117821578..117823325-chr7:117847731..117849389,2	K562	blood:
4	chr3:64004028..64006157-chr7:117822623..117824945,2	MCF-7	breast:
5	chr7:117822159..117825807-chr7:117854196..117858736,4	K562	blood:
6	chr7:117821797..117823895-chr7:117873522..117875796,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CTTNBP2-3	chr7:117821706-117824013	NONHSAT122959

Variant related genes	Relation type
NAA38	TF binding region
ENSG00000163636	Chromatin interaction
ENSG00000272181	Chromatin interaction
ENSG00000070614	Chromatin interaction
ENSG00000254333	Chromatin interaction
ENSG00000106013	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs17140971	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61605094	1.00[AMR][1000 genomes]
rs6953988	1.00[AMR][1000 genomes]
rs7792745	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7792854	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7802235	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7811177	1.00[AMR][1000 genomes]
rs7811815	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869971	chr7:117420583-118274149	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
2	nsv889088	chr7:117744660-117913648	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:117820800-117823400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:117822400-117824800	Active TSS	Gastric	stomach
3	chr7:117822400-117825000	Active TSS	Fetal Intestine Large	intestine
4	chr7:117822400-117825600	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr7:117822600-117825000	Active TSS	Duodenum Smooth Muscle	Duodenum
6	chr7:117822600-117825800	Active TSS	Psoas Muscle	Psoas
7	chr7:117822800-117823400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr7:117822800-117823400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
9	chr7:117822800-117823400	Flanking Active TSS	Dnd41	blood
10	chr7:117822800-117823400	Flanking Active TSS	NHEK	skin
11	chr7:117822800-117823600	Flanking Active TSS	Primary B cells from cord blood	blood
12	chr7:117822800-117823600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
13	chr7:117822800-117825200	Active TSS	Muscle Satellite Cultured Cells	--
14	chr7:117822800-117825200	Active TSS	GM12878-XiMat	blood
15	chr7:117822800-117825200	Active TSS	HMEC	breast
16	chr7:117822800-117825400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr7:117822800-117825600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr7:117822800-117825600	Active TSS	iPS-20b Cell Line	embryonic stem cell
19	chr7:117822800-117825600	Active TSS	A549	lung
20	chr7:117823000-117823400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:117823000-117823400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr7:117823000-117823400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
23	chr7:117823000-117823400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
24	chr7:117823000-117823400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr7:117823000-117823400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr7:117823000-117823400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr7:117823000-117823400	Active TSS	Primary T cells fromperipheralblood	blood
28	chr7:117823000-117823400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
29	chr7:117823000-117823400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr7:117823000-117823400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr7:117823000-117823400	Flanking Active TSS	Brain Hippocampus Middle	brain
32	chr7:117823000-117823400	Flanking Active TSS	Duodenum Mucosa	Duodenum
33	chr7:117823000-117823400	Flanking Active TSS	Fetal Brain Female	brain
34	chr7:117823000-117823400	Flanking Active TSS	Fetal Heart	heart
35	chr7:117823000-117823400	Flanking Active TSS	Fetal Intestine Small	intestine
36	chr7:117823000-117823400	Flanking Active TSS	Fetal Stomach	stomach
37	chr7:117823000-117823400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
38	chr7:117823000-117823400	Flanking Active TSS	Rectal Smooth Muscle	rectum
39	chr7:117823000-117823400	Flanking Active TSS	Stomach Smooth Muscle	stomach
40	chr7:117823000-117823400	Flanking Active TSS	Hela-S3	cervix
41	chr7:117823000-117823600	Flanking Active TSS	Primary hematopoietic stem cells	blood
42	chr7:117823000-117823600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
43	chr7:117823000-117823600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
44	chr7:117823000-117823600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr7:117823000-117823600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
46	chr7:117823000-117823600	Flanking Active TSS	Liver	Liver
47	chr7:117823000-117823600	Flanking Active TSS	Brain Substantia Nigra	brain
48	chr7:117823000-117823600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
49	chr7:117823000-117823800	Flanking Active TSS	Primary T cells from cord blood	blood
50	chr7:117823000-117823800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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