Variant report

Variant	rs6976843
Chromosome Location	chr7:33103303-33103304
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:33101062-33103342	MCF10A-Er-Src	breast:	n/a	n/a
2	HCFC1	chr7:33101640-33103304	K562	blood:	n/a	n/a
3	POLR2A	chr7:33102073-33103330	SK-N-SH	brain:	n/a	n/a
4	WRNIP1	chr7:33103286-33103402	GM12878	blood:	n/a	n/a
5	POLR2A	chr7:33101739-33103463	Raji	blood:	n/a	n/a
6	MXI1	chr7:33101470-33103789	IMR90	lung:	n/a	chr7:33101819-33101828
7	POLR2A	chr7:33101667-33103405	GM12891	blood:	n/a	n/a
8	MYC	chr7:33101557-33103522	A549	lung:	n/a	n/a
9	EP300	chr7:33102593-33103343	GM12878	blood:	n/a	n/a
10	POLR2A	chr7:33101972-33103419	HUVEC	blood vessel:	n/a	n/a
11	TBL1XR1	chr7:33102170-33103374	K562	blood:	n/a	n/a
12	SIN3A	chr7:33101611-33103343	H1-hESC	embryonic stem cell:	n/a	n/a
13	SIN3AK20	chr7:33101566-33103333	MCF-7	breast:	n/a	n/a
14	MAZ	chr7:33101520-33103445	IMR90	lung:	n/a	n/a
15	POLR2A	chr7:33103263-33103378	MCF10A-Er-Src	breast:	n/a	n/a
16	SMARCC1	chr7:33101673-33103452	Hela-S3	cervix:	n/a	n/a
17	MYC	chr7:33101675-33103416	K562	blood:	n/a	n/a
18	JUND	chr7:33101640-33103369	K562	blood:	n/a	chr7:33102003-33102012
19	CUX1	chr7:33102435-33103439	K562	blood:	n/a	n/a
20	REST	chr7:33101396-33103370	H1-neurons	neurons:	n/a	chr7:33102585-33102598 chr7:33103054-33103072

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:32931143..32934134-chr7:33099467..33103532,3	MCF-7	breast:
2	chr7:33102728..33104282-chr7:33122562..33124194,2	MCF-7	breast:
3	chr7:32930611..32935175-chr7:33099257..33103988,8	MCF-7	breast:
4	chr7:33100859..33104943-chr7:33146945..33149986,6	MCF-7	breast:
5	chr7:33101766..33103971-chr7:33147720..33150417,2	K562	blood:
6	chr16:89786278..89788701-chr7:33102722..33104312,2	MCF-7	breast:
7	chr7:32981117..32983868-chr7:33100044..33104533,5	K562	blood:
8	chr7:33101689..33103789-chr7:33147448..33149100,2	MCF-7	breast:
9	chr7:33101592..33103439-chr7:33148174..33150339,2	K562	blood:

No data

Variant related genes	Relation type
NT5C3A	TF binding region
ENSG00000205763	Chromatin interaction
ENSG00000075399	Chromatin interaction
ENSG00000170852	Chromatin interaction
ENSG00000158805	Chromatin interaction
ENSG00000164610	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12113707	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12667900	0.87[CHB][hapmap]
rs12668520	0.93[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12672785	0.96[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs16881927	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs16881929	0.87[CHB][hapmap];1.00[JPT][hapmap]
rs66798602	0.80[AFR][1000 genomes]
rs67595817	0.96[AFR][1000 genomes]
rs67608094	0.80[AFR][1000 genomes]
rs6946062	0.96[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs6963198	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs6965006	0.85[AFR][1000 genomes]
rs7786711	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029220	chr7:32921484-33262190	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
2	esv3478254	chr7:32956181-33133477	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	esv3478255	chr7:32956181-33133477	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	esv3528603	chr7:32956254-33133429	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	esv3528604	chr7:32956254-33133429	Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	esv3366191	chr7:32956659-33134592	Enhancers Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
7	esv3418466	chr7:32968130-33138898	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
8	nsv830942	chr7:33048075-33246735	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
9	esv3443773	chr7:33101252-33103800	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:33100200-33103600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr7:33100400-33103400	Active TSS	Muscle Satellite Cultured Cells	--
3	chr7:33100400-33103400	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr7:33100600-33103400	Active TSS	Stomach Smooth Muscle	stomach
5	chr7:33100600-33103600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr7:33100600-33103600	Active TSS	NHLF	lung
7	chr7:33100800-33103400	Active TSS	Fetal Intestine Large	intestine
8	chr7:33100800-33103400	Active TSS	Ovary	ovary
9	chr7:33100800-33103400	Active TSS	NHDF-Ad	bronchial
10	chr7:33100800-33103600	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr7:33100800-33103800	Active TSS	K562	blood
12	chr7:33101000-33103400	Active TSS	H9 Cell Line	embryonic stem cell
13	chr7:33101000-33103400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
14	chr7:33101000-33103400	Active TSS	Colonic Mucosa	Colon
15	chr7:33101000-33103600	Active TSS	H1 Cell Line	embryonic stem cell
16	chr7:33101000-33103600	Active TSS	HUES64 Cell Line	embryonic stem cell
17	chr7:33101200-33103400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:33101200-33103400	Active TSS	Fetal Muscle Trunk	muscle
19	chr7:33101200-33103400	Active TSS	Psoas Muscle	Psoas
20	chr7:33101200-33103400	Active TSS	Right Ventricle	heart
21	chr7:33101200-33103600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr7:33101200-33103600	Active TSS	Brain Cingulate Gyrus	brain
23	chr7:33101200-33103600	Active TSS	Brain Germinal Matrix	brain
24	chr7:33101200-33103600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr7:33101200-33103800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr7:33101200-33104000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr7:33101400-33103400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
28	chr7:33101400-33103400	Active TSS	iPS-15b Cell Line	embryonic stem cell
29	chr7:33101400-33103400	Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr7:33101400-33103400	Active TSS	Brain Substantia Nigra	brain
31	chr7:33101400-33103400	Active TSS	Placenta	Placenta
32	chr7:33101400-33103400	Active TSS	HSMM	muscle
33	chr7:33101400-33103600	Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr7:33101400-33103600	Active TSS	Brain Angular Gyrus	brain
35	chr7:33101400-33103600	Active TSS	Duodenum Smooth Muscle	Duodenum
36	chr7:33101400-33103600	Active TSS	Fetal Brain Male	brain
37	chr7:33101400-33103600	Active TSS	Fetal Lung	lung
38	chr7:33101400-33103800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr7:33101400-33104000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr7:33101600-33103600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr7:33101600-33103600	Active TSS	HUES48 Cell Line	embryonic stem cell
42	chr7:33101600-33103600	Active TSS	iPS-18 Cell Line	embryonic stem cell
43	chr7:33101600-33103600	Active TSS	Fetal Kidney	kidney
44	chr7:33101600-33103600	Active TSS	Rectal Mucosa Donor 29	rectum
45	chr7:33102200-33103400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr7:33102200-33103600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr7:33102400-33103600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr7:33102800-33103400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
49	chr7:33102800-33103400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
50	chr7:33102800-33103400	Flanking Active TSS	Primary B cells from cord blood	blood

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