Variant report

Variant	rs2073535
Chromosome Location	chr7:21466157-21466158
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	MAZ	chr7:21466016-21468764	IMR90	lung:	n/a	chr7:21467795-21467805 chr7:21468598-21468607 chr7:21467204-21467213 chr7:21466884-21466894
3	E2F6	chr7:21466140-21468479	K562	blood:	n/a	chr7:21466699-21466708 chr7:21466951-21466963 chr7:21467151-21467161 chr7:21466676-21466685
4	JUND	chr7:21466074-21468321	K562	blood:	n/a	chr7:21467775-21467784 chr7:21466700-21466709
5	MXI1	chr7:21465834-21468446	IMR90	lung:	n/a	n/a
6	CEBPB	chr7:21465807-21466484	Hela-S3	cervix:	n/a	chr7:21466072-21466083 chr7:21466006-21466017 chr7:21466007-21466018 chr7:21466006-21466017
7	MAX	chr7:21465856-21466318	H1-hESC	embryonic stem cell:	n/a	n/a
8	MYC	chr7:21465867-21468340	K562	blood:	n/a	chr7:21467795-21467805 chr7:21467204-21467213 chr7:21466884-21466894
9	SIN3AK20	chr7:21465854-21468499	MCF-7	breast:	n/a	n/a
10	CEBPB	chr7:21465901-21466312	K562	blood:	n/a	chr7:21466072-21466083 chr7:21466006-21466017 chr7:21466007-21466018 chr7:21466006-21466017
11	POLR2A	chr7:21465782-21468620	H1-hESC	embryonic stem cell:	n/a	n/a
12	SMARCC1	chr7:21466145-21468697	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr7:21466112-21466340	HepG2	liver:	n/a	n/a
14	HA-E2F1	chr7:21466028-21467834	MCF-7	breast:	n/a	chr7:21466699-21466708 chr7:21466951-21466963 chr7:21467151-21467161 chr7:21466676-21466685
15	RAD21	chr7:21465986-21467173	H1-hESC	embryonic stem cell:	n/a	chr7:21466890-21466904 chr7:21466530-21466543
16	MXI1	chr7:21465714-21469527	SK-N-SH	brain:	n/a	n/a
17	CEBPB	chr7:21465894-21466211	HepG2	liver:	n/a	chr7:21466072-21466083 chr7:21466006-21466017 chr7:21466007-21466018 chr7:21466006-21466017
18	SREBP1	chr7:21465827-21468943	GM12878	blood:	n/a	chr7:21468076-21468090
19	FOS	chr7:21465831-21466195	MCF10A-Er-Src	breast:	n/a	n/a
20	SIN3A	chr7:21465913-21468854	H1-hESC	embryonic stem cell:	n/a	chr7:21466758-21466771
21	CEBPB	chr7:21465857-21466197	A549	lung:	n/a	chr7:21466072-21466083 chr7:21466006-21466017 chr7:21466007-21466018 chr7:21466006-21466017
22	CEBPB	chr7:21465911-21466262	MCF-7	breast:	n/a	chr7:21466072-21466083 chr7:21466006-21466017 chr7:21466007-21466018 chr7:21466006-21466017
23	CEBPB	chr7:21465895-21466531	K562	blood:	n/a	chr7:21466072-21466083 chr7:21466006-21466017 chr7:21466007-21466018 chr7:21466006-21466017
24	MYC	chr7:21465856-21468334	NB4	blood:	n/a	chr7:21467795-21467805 chr7:21467204-21467213 chr7:21466884-21466894
25	POLR2A	chr7:21465993-21468392	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr7:21466143-21468237	HepG2	liver:	n/a	n/a
27	EP300	chr7:21465970-21468527	K562	blood:	n/a	chr7:21467487-21467503 chr7:21466907-21466923 chr7:21466715-21466724 chr7:21466807-21466823
28	BHLHE40	chr7:21466143-21466282	K562	blood:	n/a	n/a
29	RCOR1	chr7:21465918-21466834	K562	blood:	n/a	n/a
30	REST	chr7:21465727-21468630	H1-neurons	neurons:	n/a	chr7:21466760-21466770 chr7:21467482-21467492
31	RCOR1	chr7:21465988-21468355	K562	blood:	n/a	n/a
32	POLR2A	chr7:21466093-21468294	Hela-S3	cervix:	n/a	n/a
33	YY1	chr7:21465943-21468051	H1-hESC	embryonic stem cell:	n/a	chr7:21467485-21467496 chr7:21467474-21467488 chr7:21467154-21467165 chr7:21467486-21467500 chr7:21466712-21466721 chr7:21467567-21467578
34	EP300	chr7:21466139-21466318	GM12878	blood:	n/a	n/a
35	GATA1	chr7:21466039-21467749	PBDE	blood:	n/a	chr7:21466442-21466454 chr7:21466445-21466455 chr7:21466445-21466452 chr7:21466443-21466452
36	MAX	chr7:21465829-21468517	NB4	blood:	n/a	chr7:21467795-21467805 chr7:21467204-21467213 chr7:21466884-21466894
37	POLR2A	chr7:21466090-21468527	GM12878	blood:	n/a	n/a
38	POLR2A	chr7:21465949-21466383	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr7:21465873-21468392	H1-neurons	neurons:	n/a	n/a
40	MAZ	chr7:21465915-21468446	K562	blood:	n/a	chr7:21467795-21467805 chr7:21467204-21467213 chr7:21466884-21466894
41	POLR2A	chr7:21465856-21467890	PBDE	blood:	n/a	n/a
42	MYC	chr7:21466015-21468560	K562	blood:	n/a	chr7:21467795-21467805 chr7:21467204-21467213 chr7:21466884-21466894
43	KAP1	chr7:21465971-21467467	HEK293	kidney:	n/a	n/a
44	FOS	chr7:21465824-21466182	MCF10A-Er-Src	breast:	n/a	n/a
45	EP300	chr7:21465898-21466162	Hela-S3	cervix:	n/a	n/a
46	JUND	chr7:21465923-21467934	H1-hESC	embryonic stem cell:	n/a	chr7:21467775-21467784 chr7:21466700-21466709
47	CEBPB	chr7:21465883-21466527	IMR90	lung:	n/a	chr7:21466072-21466083 chr7:21466006-21466017 chr7:21466007-21466018 chr7:21466006-21466017
48	ZNF384	chr7:21466086-21467272	K562	blood:	n/a	n/a
49	CEBPB	chr7:21465921-21466290	H1-hESC	embryonic stem cell:	n/a	chr7:21466072-21466083 chr7:21466006-21466017 chr7:21466007-21466018 chr7:21466006-21466017
50	POLR2A	chr7:21466137-21469177	GM18505	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:21464777..21466947-chr7:21524501..21526981,2	K562	blood:
2	chr17:56405577..56408427-chr7:21466025..21468331,2	K562	blood:
3	chr7:21464898..21467027-chr7:21551635..21554348,2	K562	blood:
4	chr7:21457297..21459826-chr7:21464740..21467437,4	MCF-7	breast:
5	chr7:21465232..21467333-chr7:21480661..21482272,2	K562	blood:
6	chr7:21455977..21463086-chr7:21463443..21469885,12	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CDCA7L-2	chr7:21466127-21466535	NONHSAT119446

Variant related genes	Relation type
SP4	TF binding region
ENSG00000266862	TF binding region
ENSG00000266862	Chromatin interaction
ENSG00000005379	Chromatin interaction
ENSG00000265148	Chromatin interaction

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

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

rs_ID	r²[population]
rs2073534	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]

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:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:21465400-21466400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:21465600-21466200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
3	chr7:21465600-21466200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr7:21465600-21466200	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr7:21465600-21466200	Enhancers	Placenta	Placenta
6	chr7:21465600-21466200	Enhancers	Fetal Thymus	thymus
7	chr7:21465800-21466200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr7:21465800-21466200	Enhancers	Primary B cells from peripheral blood	blood
9	chr7:21465800-21466200	Enhancers	Primary T cells from cord blood	blood
10	chr7:21465800-21466200	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr7:21465800-21466200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr7:21465800-21466200	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr7:21465800-21466200	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr7:21465800-21466200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
15	chr7:21465800-21466200	Enhancers	Brain Cingulate Gyrus	brain
16	chr7:21465800-21466200	Enhancers	Fetal Intestine Small	intestine
17	chr7:21465800-21466200	Enhancers	Fetal Muscle Leg	muscle
18	chr7:21465800-21466200	Enhancers	Hela-S3	cervix
19	chr7:21465800-21466200	Enhancers	Osteobl	bone
20	chr7:21465800-21466400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
21	chr7:21465800-21466400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr7:21465800-21466400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr7:21465800-21466400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr7:21465800-21466600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
25	chr7:21465800-21466600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
26	chr7:21465800-21466600	Flanking Active TSS	K562	blood
27	chr7:21465800-21466600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
28	chr7:21466000-21466200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr7:21466000-21466200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr7:21466000-21466200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr7:21466000-21466200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr7:21466000-21466200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr7:21466000-21466200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr7:21466000-21466200	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr7:21466000-21466200	Enhancers	Primary T cells fromperipheralblood	blood
36	chr7:21466000-21466200	Enhancers	Primary hematopoietic stem cells	blood
37	chr7:21466000-21466200	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr7:21466000-21466200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr7:21466000-21466200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr7:21466000-21466200	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr7:21466000-21466200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr7:21466000-21466200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr7:21466000-21466200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr7:21466000-21466200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr7:21466000-21466200	Enhancers	Adipose Nuclei	Adipose
46	chr7:21466000-21466200	Enhancers	Liver	Liver
47	chr7:21466000-21466200	Enhancers	Brain Angular Gyrus	brain
48	chr7:21466000-21466200	Enhancers	Colonic Mucosa	Colon
49	chr7:21466000-21466200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr7:21466000-21466200	Enhancers	Fetal Heart	heart

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