Variant report

Variant	rs2307253
Chromosome Location	chr7:48018376-48018377
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	chr7:48018329-48019508	K562	blood:	n/a	n/a
2	RELA	chr7:48018354-48019454	GM15510	blood:	n/a	n/a
3	GATA1	chr7:48017746-48019605	PBDE	blood:	n/a	chr7:48018631-48018642
4	ATF1	chr7:48018348-48019499	K562	blood:	n/a	n/a
5	POLR2A	chr7:48018099-48019561	GM12878	blood:	n/a	n/a
6	EP300	chr7:48018182-48019431	K562	blood:	n/a	n/a
7	RCOR1	chr7:48018203-48019674	K562	blood:	n/a	n/a
8	MYC	chr7:48018159-48019483	K562	blood:	n/a	chr7:48018810-48018818 chr7:48018810-48018823 chr7:48018810-48018823 chr7:48018812-48018821 chr7:48018810-48018823 chr7:48018811-48018822
9	ZMIZ1	chr7:48018323-48019780	K562	blood:	n/a	n/a
10	MTA3	chr7:48018267-48019421	GM12878	blood:	n/a	n/a
11	ZNF143	chr7:48018209-48019412	K562	blood:	n/a	chr7:48019339-48019357 chr7:48018595-48018604
12	POLR2A	chr7:48018359-48019470	K562	blood:	n/a	n/a
13	POLR2A	chr7:48018101-48019523	PANC-1	pancreas:	n/a	n/a
14	POLR2A	chr7:48018068-48019450	GM12892	blood:	n/a	n/a
15	RELA	chr7:48018225-48019486	GM18951	blood:	n/a	n/a
16	MXI1	chr7:48018199-48019630	GM12878	blood:	n/a	chr7:48018813-48018822
17	RCOR1	chr7:48017981-48019357	K562	blood:	n/a	n/a
18	POLR2A	chr7:48017926-48019495	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr7:48018212-48019574	H1-hESC	embryonic stem cell:	n/a	n/a
20	MAZ	chr7:48018264-48019569	K562	blood:	n/a	chr7:48018810-48018818 chr7:48018810-48018823 chr7:48018810-48018823 chr7:48018812-48018821 chr7:48018810-48018823 chr7:48018811-48018822
21	MXI1	chr7:48017679-48019985	SK-N-SH	brain:	n/a	chr7:48018813-48018822
22	MYC	chr7:48018139-48019527	K562	blood:	n/a	chr7:48018810-48018818 chr7:48018810-48018823 chr7:48018810-48018823 chr7:48018812-48018821 chr7:48018810-48018823 chr7:48018811-48018822
23	POLR2A	chr7:48017638-48019748	GM12891	blood:	n/a	n/a
24	TBP	chr7:48018295-48019473	K562	blood:	n/a	n/a
25	GATA3	chr7:48018207-48018643	SH-SY5Y	brain:	n/a	chr7:48018631-48018642
26	MYC	chr7:48018347-48019444	Hela-S3	cervix:	n/a	chr7:48018810-48018818 chr7:48018810-48018823 chr7:48018810-48018823 chr7:48018812-48018821 chr7:48018810-48018823 chr7:48018811-48018822
27	MYC	chr7:48018294-48019474	NB4	blood:	n/a	chr7:48018810-48018818 chr7:48018810-48018823 chr7:48018810-48018823 chr7:48018812-48018821 chr7:48018810-48018823 chr7:48018811-48018822
28	POLR2A	chr7:48018058-48019507	K562	blood:	n/a	n/a
29	MAX	chr7:48018164-48018426	K562	blood:	n/a	n/a
30	MXI1	chr7:48018306-48018843	K562	blood:	n/a	chr7:48018813-48018822
31	POLR2A	chr7:48017982-48019560	GM19193	blood:	n/a	n/a
32	EP300	chr7:48018306-48018829	K562	blood:	n/a	n/a
33	JUND	chr7:48018243-48019718	K562	blood:	n/a	n/a
34	POLR2A	chr7:48018238-48019510	Raji	blood:	n/a	n/a
35	MAFK	chr7:48018024-48019658	K562	blood:	n/a	n/a
36	STAT5A	chr7:48018192-48019491	GM12878	blood:	n/a	n/a
37	SIN3A	chr7:48018228-48019493	H1-hESC	embryonic stem cell:	n/a	chr7:48018813-48018822 chr7:48018811-48018820 chr7:48019379-48019390
38	POLR2A	chr7:48018245-48019504	MCF10A-Er-Src	breast:	n/a	n/a
39	WRNIP1	chr7:48018358-48018760	GM12878	blood:	n/a	n/a
40	POLR2A	chr7:48018247-48019562	GM18505	blood:	n/a	n/a
41	MAX	chr7:48018174-48019475	NB4	blood:	n/a	chr7:48018810-48018818 chr7:48018810-48018823 chr7:48018810-48018823 chr7:48018812-48018821 chr7:48018810-48018823 chr7:48018811-48018822
42	POLR2A	chr7:48017990-48019426	Hela-S3	cervix:	n/a	n/a
43	POLR2A	chr7:48018362-48019506	SK-N-MC	brain:	n/a	n/a
44	TBL1XR1	chr7:48018287-48019518	K562	blood:	n/a	n/a
45	CTCF	chr7:48018340-48018490	WI-38	lung:	n/a	n/a
46	POLR2A	chr7:48018276-48019595	K562	blood:	n/a	n/a
47	POLR2A	chr7:48018001-48019531	K562	blood:	n/a	n/a
48	MAX	chr7:48018098-48018421	K562	blood:	n/a	n/a
49	POLR2A	chr7:48018290-48019335	HepG2	liver:	n/a	n/a
50	USF2	chr7:48018139-48018896	K562	blood:	n/a	chr7:48018811-48018822

No.	Distal block	Cell Line	Cell type
1	chr7:48017535..48019169-chr7:48128413..48129998,2	K562	blood:
2	chr7:48016950..48019113-chr7:48039129..48042039,2	K562	blood:
3	chr7:48017568..48020341-chr7:48128356..48131105,2	MCF-7	breast:
4	chr7:48017456..48020295-chr7:48126750..48129913,5	K562	blood:

Variant related genes	Relation type
HUS1	TF binding region
ENSG00000164744	Chromatin interaction
ENSG00000183696	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17131957	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3176484	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3176552	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3176603	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3176608	1.00[AMR][1000 genomes]
rs3176621	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59522165	1.00[AMR][1000 genomes]
rs6978458	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026223	chr7:47560728-48243287	Genic enhancers Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv869585	chr7:47765428-48151324	Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv830991	chr7:47854530-48025996	Weak transcription Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv532120	chr7:47882757-48195869	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv470221	chr7:47917495-48354363	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv464442	chr7:47917495-48354820	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv606893	chr7:47917495-48354820	Flanking Active TSS Strong transcription Genic enhancers Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 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	chr7:48017600-48018400	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr7:48017600-48019600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr7:48017800-48018400	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:48017800-48018400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr7:48017800-48018400	Genic enhancers	Primary monocytes fromperipheralblood	blood
6	chr7:48017800-48018400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr7:48017800-48018400	Flanking Active TSS	Fetal Brain Male	brain
8	chr7:48017800-48018400	Transcr. at gene 5' and 3'	A549	lung
9	chr7:48017800-48018400	Transcr. at gene 5' and 3'	HMEC	breast
10	chr7:48017800-48018600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
11	chr7:48017800-48018600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
12	chr7:48017800-48018600	Enhancers	Placenta Amnion	Placenta Amnion
13	chr7:48017800-48018600	Transcr. at gene 5' and 3'	K562	blood
14	chr7:48017800-48018600	Flanking Active TSS	NHLF	lung
15	chr7:48017800-48018800	Flanking Active TSS	Hela-S3	cervix
16	chr7:48018000-48018400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:48018000-48018400	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
18	chr7:48018000-48018400	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
19	chr7:48018000-48018400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr7:48018000-48018400	Transcr. at gene 5' and 3'	Primary B cells from cord blood	blood
21	chr7:48018000-48018400	Genic enhancers	Primary B cells from peripheral blood	blood
22	chr7:48018000-48018400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
23	chr7:48018000-48018400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr7:48018000-48018400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr7:48018000-48018400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr7:48018000-48018400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr7:48018000-48018400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr7:48018000-48018400	Flanking Active TSS	Brain Cingulate Gyrus	brain
29	chr7:48018000-48018400	Genic enhancers	Placenta	Placenta
30	chr7:48018000-48018400	Flanking Active TSS	Psoas Muscle	Psoas
31	chr7:48018000-48018400	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 29	rectum
32	chr7:48018000-48018400	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
33	chr7:48018000-48018400	Flanking Active TSS	HSMMtube	muscle
34	chr7:48018000-48018400	Transcr. at gene 5' and 3'	NHEK	skin
35	chr7:48018000-48018600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr7:48018000-48018600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr7:48018000-48018600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
38	chr7:48018000-48018600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr7:48018000-48018600	Flanking Active TSS	Brain Germinal Matrix	brain
40	chr7:48018000-48018600	Flanking Active TSS	Brain Hippocampus Middle	brain
41	chr7:48018000-48018600	Flanking Active TSS	Colon Smooth Muscle	Colon
42	chr7:48018000-48018600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
43	chr7:48018000-48018600	Flanking Active TSS	Thymus	Thymus
44	chr7:48018000-48018600	Flanking Active TSS	Dnd41	blood
45	chr7:48018000-48018800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr7:48018000-48018800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
47	chr7:48018000-48018800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
48	chr7:48018000-48018800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
49	chr7:48018000-48018800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
50	chr7:48018000-48018800	Flanking Active TSS	Muscle Satellite Cultured Cells	--

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