Variant report

Variant	rs2906713
Chromosome Location	chr7:101934652-101934653
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	chr7:101934444-101935436	GM12892	blood:	n/a	n/a
2	POLR2A	chr7:101934226-101935399	GM15510	blood:	n/a	n/a
3	RUNX3	chr7:101934334-101935382	GM12878	blood:	n/a	n/a
4	RELA	chr7:101934578-101935251	GM19099	blood:	n/a	chr7:101934935-101934944 chr7:101934935-101934944
5	ATF2	chr7:101934447-101935309	GM12878	blood:	n/a	n/a
6	MTA3	chr7:101933738-101935610	GM12878	blood:	n/a	n/a
7	POLR2A	chr7:101929531-101935334	GM12892	blood:	n/a	n/a
8	PAX5	chr7:101934611-101935355	GM12878	blood:	n/a	n/a
9	TCF3	chr7:101934450-101935222	GM12878	blood:	n/a	n/a
10	EBF1	chr7:101934478-101935274	GM12878	blood:	n/a	n/a
11	PAX5	chr7:101934589-101935204	GM12878	blood:	n/a	n/a
12	ELF1	chr7:101934373-101935372	GM12878	blood:	n/a	n/a
13	POLR2A	chr7:101933567-101935529	GM12878	blood:	n/a	n/a
14	POLR2A	chr7:101933959-101935424	GM12878	blood:	n/a	n/a
15	MEF2A	chr7:101934531-101935306	GM12878	blood:	n/a	n/a
16	BCLAF1	chr7:101934439-101935371	GM12878	blood:	n/a	chr7:101934935-101934944
17	MEF2C	chr7:101934589-101935295	GM12878	blood:	n/a	n/a
18	RELA	chr7:101934302-101935324	GM12891	blood:	n/a	chr7:101934935-101934944 chr7:101934935-101934944
19	NFIC	chr7:101934486-101935258	GM12878	blood:	n/a	n/a
20	CEBPB	chr7:101934541-101934677	K562	blood:	n/a	n/a
21	EBF1	chr7:101934495-101935139	GM12878	blood:	n/a	n/a
22	MEF2A	chr7:101934607-101935224	GM12878	blood:	n/a	n/a
23	RELA	chr7:101934585-101935342	GM15510	blood:	n/a	chr7:101934935-101934944 chr7:101934935-101934944
24	RELA	chr7:101934618-101935224	GM10847	blood:	n/a	chr7:101934935-101934944 chr7:101934935-101934944
25	POLR2A	chr7:101934118-101935484	GM12892	blood:	n/a	n/a
26	FOXM1	chr7:101934609-101935343	GM12878	blood:	n/a	n/a
27	FOXM1	chr7:101934641-101935304	GM12878	blood:	n/a	n/a
28	NFATC1	chr7:101934552-101935377	GM12878	blood:	n/a	n/a
29	RELA	chr7:101934591-101935356	GM19193	blood:	n/a	chr7:101934935-101934944 chr7:101934935-101934944
30	PML	chr7:101934500-101935342	GM12878	blood:	n/a	n/a
31	RCOR1	chr7:101934599-101935425	GM12878	blood:	n/a	n/a
32	BCLAF1	chr7:101934466-101935271	GM12878	blood:	n/a	chr7:101934935-101934944
33	CEBPB	chr7:101934517-101934678	HepG2	liver:	n/a	n/a
34	POU2F2	chr7:101934579-101935222	GM12878	blood:	n/a	n/a
35	POU2F2	chr7:101934527-101935399	GM12891	blood:	n/a	n/a
36	RELA	chr7:101934577-101935279	GM18505	blood:	n/a	chr7:101934935-101934944 chr7:101934935-101934944
37	STAT5A	chr7:101934529-101935394	GM12878	blood:	n/a	n/a
38	RELA	chr7:101934643-101935187	GM18526	blood:	n/a	chr7:101934935-101934944 chr7:101934935-101934944
39	POLR2A	chr7:101934354-101935337	Raji	blood:	n/a	n/a
40	POLR2A	chr7:101927777-101935499	GM18505	blood:	n/a	n/a
41	ATF2	chr7:101934617-101935095	GM12878	blood:	n/a	n/a
42	POLR2A	chr7:101930900-101935462	GM12891	blood:	n/a	n/a
43	ELF1	chr7:101934632-101935308	GM12878	blood:	n/a	n/a
44	EBF1	chr7:101934578-101935218	GM12878	blood:	n/a	n/a
45	IKZF1	chr7:101934518-101935171	GM12878	blood:	n/a	n/a
46	RELA	chr7:101934644-101935256	GM12878	blood:	n/a	chr7:101934935-101934944 chr7:101934935-101934944
47	ZEB1	chr7:101934610-101935218	GM12878	blood:	n/a	chr7:101934777-101934788
48	POLR2A	chr7:101934391-101934815	GM12878	blood:	n/a	n/a
49	RELA	chr7:101934514-101935361	GM18951	blood:	n/a	chr7:101934935-101934944 chr7:101934935-101934944
50	TBL1XR1	chr7:101934514-101935422	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:101933901..101936240-chr7:101942791..101945477,2	MCF-7	breast:
2	chr7:101933755..101935437-chr7:101946466..101948365,2	K562	blood:
3	chr7:101933934..101936298-chr7:101951581..101953703,2	MCF-7	breast:
4	chr7:101928285..101931151-chr7:101931936..101935513,3	K562	blood:

Variant related genes	Relation type
MIR4285	TF binding region
ENSG00000160999	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12112502	0.80[AFR][1000 genomes]
rs2242579	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2906711	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2906712	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2960270	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2974958	0.89[CEU][hapmap];0.89[EUR][1000 genomes]
rs2974959	0.89[EUR][1000 genomes]
rs34707892	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4729779	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8950	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv464662	chr7:101912320-101949128	Strong transcription Weak transcription Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	24 gene(s)	inside rSNPs	diseases
2	nsv464663	chr7:101912320-101949128	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	24 gene(s)	inside rSNPs	diseases
3	nsv607996	chr7:101912320-101949128	Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	24 gene(s)	inside rSNPs	diseases
4	nsv607997	chr7:101912320-101949128	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	24 gene(s)	inside rSNPs	diseases
5	esv2758126	chr7:101912320-102005026	Genic enhancers Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
6	esv2759548	chr7:101912320-102005026	Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
7	esv1814780	chr7:101912320-102375950	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
8	esv1819566	chr7:101912320-102375950	Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
9	esv1822347	chr7:101912320-102375950	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
10	esv1825708	chr7:101912320-102375950	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
11	esv1842898	chr7:101912320-102375950	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
12	esv1847418	chr7:101912320-102375950	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
13	nsv427798	chr7:101912320-102375950	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
14	nsv428182	chr7:101912320-102375950	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
15	nsv1016563	chr7:101912320-102695860	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
16	nsv1028438	chr7:101912320-102704135	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
17	esv1822373	chr7:101913187-101969458	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
18	nsv888828	chr7:101921289-101939759	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA	23 gene(s)	inside rSNPs	diseases
19	nsv888829	chr7:101926788-101946385	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	22 gene(s)	inside rSNPs	diseases
20	nsv888830	chr7:101926788-101957518	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101931400-101935000	Weak transcription	HMEC	breast
2	chr7:101931400-101939000	Weak transcription	Right Atrium	heart
3	chr7:101931400-101944200	Weak transcription	Gastric	stomach
4	chr7:101931600-101934800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr7:101931600-101936000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr7:101931600-101936000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr7:101931600-101936200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr7:101931600-101943800	Weak transcription	Ovary	ovary
9	chr7:101931800-101936000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr7:101931800-101936000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr7:101931800-101936000	Weak transcription	Left Ventricle	heart
12	chr7:101931800-101936600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:101931800-101936600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr7:101931800-101950000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr7:101932000-101934800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr7:101932000-101935000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr7:101932200-101936200	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr7:101932200-101938400	Weak transcription	A549	lung
19	chr7:101932400-101935400	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr7:101932400-101936600	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr7:101932600-101935400	Enhancers	Fetal Thymus	thymus
22	chr7:101932600-101936000	Weak transcription	Colonic Mucosa	Colon
23	chr7:101932600-101936200	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr7:101932600-101938800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr7:101932600-101949800	Weak transcription	Brain Anterior Caudate	brain
26	chr7:101932800-101935800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr7:101932800-101936000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr7:101932800-101938800	Weak transcription	HSMMtube	muscle
29	chr7:101933000-101935000	Weak transcription	Spleen	Spleen
30	chr7:101933000-101935400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr7:101933200-101936000	Weak transcription	Brain Germinal Matrix	brain
32	chr7:101933200-101936000	Weak transcription	Fetal Brain Male	brain
33	chr7:101933200-101936000	Weak transcription	Fetal Brain Female	brain
34	chr7:101933200-101936000	Weak transcription	Placenta	Placenta
35	chr7:101933200-101942600	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr7:101933400-101942600	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr7:101933400-101944000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr7:101933800-101935200	Flanking Active TSS	GM12878-XiMat	blood
39	chr7:101933800-101936200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr7:101934000-101935400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
41	chr7:101934200-101935000	Enhancers	Duodenum Mucosa	Duodenum
42	chr7:101934200-101935000	Enhancers	Fetal Muscle Leg	muscle
43	chr7:101934200-101935200	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr7:101934200-101935200	Flanking Active TSS	Primary B cells from cord blood	blood
45	chr7:101934200-101935400	Enhancers	Primary T cells from cord blood	blood
46	chr7:101934200-101935400	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chr7:101934200-101935400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr7:101934200-101935600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr7:101934200-101935600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
50	chr7:101934200-101935600	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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