Variant report

Variant	rs2073534
Chromosome Location	chr7:21465942-21465943
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	MYC	chr7:21465887-21468372	K562	blood:	n/a	chr7:21467795-21467805 chr7:21467204-21467213 chr7:21466884-21466894
2	MXI1	chr7:21465834-21468446	IMR90	lung:	n/a	n/a
3	CEBPB	chr7:21465807-21466484	Hela-S3	cervix:	n/a	chr7:21466072-21466083 chr7:21466006-21466017 chr7:21466007-21466018 chr7:21466006-21466017
4	MAX	chr7:21465856-21466318	H1-hESC	embryonic stem cell:	n/a	n/a
5	MYC	chr7:21465867-21468340	K562	blood:	n/a	chr7:21467795-21467805 chr7:21467204-21467213 chr7:21466884-21466894
6	SIN3AK20	chr7:21465854-21468499	MCF-7	breast:	n/a	n/a
7	CEBPB	chr7:21465901-21466312	K562	blood:	n/a	chr7:21466072-21466083 chr7:21466006-21466017 chr7:21466007-21466018 chr7:21466006-21466017
8	POLR2A	chr7:21465782-21468620	H1-hESC	embryonic stem cell:	n/a	n/a
9	MXI1	chr7:21465714-21469527	SK-N-SH	brain:	n/a	n/a
10	CEBPB	chr7:21465894-21466211	HepG2	liver:	n/a	chr7:21466072-21466083 chr7:21466006-21466017 chr7:21466007-21466018 chr7:21466006-21466017
11	MYC	chr7:21465835-21466137	MCF10A-Er-Src	breast:	n/a	n/a
12	SREBP1	chr7:21465827-21468943	GM12878	blood:	n/a	chr7:21468076-21468090
13	FOS	chr7:21465831-21466195	MCF10A-Er-Src	breast:	n/a	n/a
14	SIN3A	chr7:21465913-21468854	H1-hESC	embryonic stem cell:	n/a	chr7:21466758-21466771
15	CEBPB	chr7:21465857-21466197	A549	lung:	n/a	chr7:21466072-21466083 chr7:21466006-21466017 chr7:21466007-21466018 chr7:21466006-21466017
16	CEBPB	chr7:21465911-21466262	MCF-7	breast:	n/a	chr7:21466072-21466083 chr7:21466006-21466017 chr7:21466007-21466018 chr7:21466006-21466017
17	CEBPB	chr7:21465895-21466531	K562	blood:	n/a	chr7:21466072-21466083 chr7:21466006-21466017 chr7:21466007-21466018 chr7:21466006-21466017
18	MYC	chr7:21465856-21468334	NB4	blood:	n/a	chr7:21467795-21467805 chr7:21467204-21467213 chr7:21466884-21466894
19	RCOR1	chr7:21465918-21466834	K562	blood:	n/a	n/a
20	REST	chr7:21465727-21468630	H1-neurons	neurons:	n/a	chr7:21466760-21466770 chr7:21467482-21467492
21	MAX	chr7:21465829-21468517	NB4	blood:	n/a	chr7:21467795-21467805 chr7:21467204-21467213 chr7:21466884-21466894
22	POLR2A	chr7:21465873-21468392	H1-neurons	neurons:	n/a	n/a
23	MAZ	chr7:21465915-21468446	K562	blood:	n/a	chr7:21467795-21467805 chr7:21467204-21467213 chr7:21466884-21466894
24	POLR2A	chr7:21465856-21467890	PBDE	blood:	n/a	n/a
25	FOS	chr7:21465824-21466182	MCF10A-Er-Src	breast:	n/a	n/a
26	EP300	chr7:21465898-21466162	Hela-S3	cervix:	n/a	n/a
27	JUND	chr7:21465923-21467934	H1-hESC	embryonic stem cell:	n/a	chr7:21467775-21467784 chr7:21466700-21466709
28	CEBPB	chr7:21465883-21466527	IMR90	lung:	n/a	chr7:21466072-21466083 chr7:21466006-21466017 chr7:21466007-21466018 chr7:21466006-21466017
29	CEBPB	chr7:21465921-21466290	H1-hESC	embryonic stem cell:	n/a	chr7:21466072-21466083 chr7:21466006-21466017 chr7:21466007-21466018 chr7:21466006-21466017
30	FOS	chr7:21465932-21466110	MCF10A-Er-Src	breast:	n/a	n/a
31	TAF1	chr7:21465905-21468425	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:21464777..21466947-chr7:21524501..21526981,2	K562	blood:
2	chr7:21464898..21467027-chr7:21551635..21554348,2	K562	blood:
3	chr7:21457297..21459826-chr7:21464740..21467437,4	MCF-7	breast:
4	chr7:21465232..21467333-chr7:21480661..21482272,2	K562	blood:
5	chr7:21455977..21463086-chr7:21463443..21469885,12	K562	blood:

Variant related genes	Relation type
ENSG00000266862	TF binding region
SP4	TF binding region
ENSG00000266862	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2073535	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9791447	1.00[CEU][hapmap]
rs9791769	0.85[CHB][hapmap];1.00[MEX][hapmap]

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	nsv1027302	chr7:21391598-21727016	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv538800	chr7:21391598-21727016	Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:21458200-21466000	Weak transcription	Thymus	Thymus
2	chr7:21462200-21466000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr7:21464600-21466000	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr7:21465000-21466000	Enhancers	H1 Cell Line	embryonic stem cell
5	chr7:21465200-21466000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr7:21465400-21466400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr7:21465600-21466000	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr7:21465600-21466000	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr7:21465600-21466000	Enhancers	Primary B cells from cord blood	blood
10	chr7:21465600-21466000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr7:21465600-21466000	Enhancers	Brain Germinal Matrix	brain
12	chr7:21465600-21466200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
13	chr7:21465600-21466200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr7:21465600-21466200	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr7:21465600-21466200	Enhancers	Placenta	Placenta
16	chr7:21465600-21466200	Enhancers	Fetal Thymus	thymus
17	chr7:21465800-21466000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr7:21465800-21466000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr7:21465800-21466000	Enhancers	H9 Cell Line	embryonic stem cell
20	chr7:21465800-21466000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:21465800-21466000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr7:21465800-21466000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr7:21465800-21466000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr7:21465800-21466000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr7:21465800-21466000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr7:21465800-21466000	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr7:21465800-21466000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr7:21465800-21466000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr7:21465800-21466000	Enhancers	Muscle Satellite Cultured Cells	--
30	chr7:21465800-21466000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr7:21465800-21466000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr7:21465800-21466000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr7:21465800-21466000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr7:21465800-21466000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr7:21465800-21466000	Active TSS	Brain Anterior Caudate	brain
36	chr7:21465800-21466000	Enhancers	Brain Hippocampus Middle	brain
37	chr7:21465800-21466000	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr7:21465800-21466000	Enhancers	Brain Substantia Nigra	brain
39	chr7:21465800-21466000	Active TSS	Colon Smooth Muscle	Colon
40	chr7:21465800-21466000	Enhancers	Duodenum Mucosa	Duodenum
41	chr7:21465800-21466000	Enhancers	Duodenum Smooth Muscle	Duodenum
42	chr7:21465800-21466000	Enhancers	Fetal Brain Female	brain
43	chr7:21465800-21466000	Enhancers	Rectal Mucosa Donor 29	rectum
44	chr7:21465800-21466000	Enhancers	Rectal Smooth Muscle	rectum
45	chr7:21465800-21466000	Enhancers	Right Ventricle	heart
46	chr7:21465800-21466000	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr7:21465800-21466000	Active TSS	Stomach Smooth Muscle	stomach
48	chr7:21465800-21466000	Enhancers	Dnd41	blood
49	chr7:21465800-21466000	Enhancers	GM12878-XiMat	blood
50	chr7:21465800-21466000	Enhancers	HepG2	liver

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