Variant report

Variant	rs2949257
Chromosome Location	chr7:64542121-64542122
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	chr7:64541262-64542212	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr7:64541233-64542121	ProgFib	skin:	n/a	n/a
3	PAX5	chr7:64541371-64542154	GM12878	blood:	n/a	chr7:64541826-64541835
4	POLR2A	chr7:64541217-64542281	MCF-7	breast:	n/a	n/a
5	POLR2A	chr7:64541198-64542583	GM12878	blood:	n/a	n/a
6	POLR2A	chr7:64541173-64542248	MCF-7	breast:	n/a	n/a
7	POLR2A	chr7:64541014-64542203	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr7:64541156-64542389	MCF-7	breast:	n/a	n/a
9	HEY1	chr7:64541199-64542188	K562	blood:	n/a	n/a
10	POLR2A	chr7:64541370-64542181	K562	blood:	n/a	n/a
11	POLR2A	chr7:64540995-64542258	PFSK-1	brain:	n/a	n/a
12	POU2F2	chr7:64541244-64542126	GM12891	blood:	n/a	n/a
13	TRIM28	chr7:64541515-64542151	K562	blood:	n/a	n/a
14	CBX3	chr7:64541167-64542125	K562	blood:	n/a	n/a
15	CEBPB	chr7:64541525-64542395	IMR90	lung:	n/a	chr7:64541668-64541676
16	CEBPB	chr7:64541534-64542126	HepG2	liver:	n/a	chr7:64541668-64541676
17	POLR2A	chr7:64541297-64542134	GM12892	blood:	n/a	n/a
18	POLR2A	chr7:64541240-64542149	HUVEC	blood vessel:	n/a	n/a
19	POLR2A	chr7:64541334-64542292	GM12891	blood:	n/a	n/a
20	CEBPB	chr7:64541555-64542417	K562	blood:	n/a	chr7:64541668-64541676
21	POLR2A	chr7:64542070-64542368	K562	blood:	n/a	n/a
22	POLR2A	chr7:64541199-64542438	GM12892	blood:	n/a	n/a
23	HEY1	chr7:64541290-64542354	K562	blood:	n/a	n/a
24	CEBPB	chr7:64541514-64542396	K562	blood:	n/a	chr7:64541668-64541676
25	CEBPB	chr7:64541375-64542360	Hela-S3	cervix:	n/a	chr7:64541668-64541676
26	POLR2A	chr7:64541150-64542268	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr7:64541383-64542138	MCF10A-Er-Src	breast:	n/a	n/a
28	POLR2A	chr7:64541199-64542577	K562	blood:	n/a	n/a
29	POLR2A	chr7:64541063-64543131	HepG2	liver:	n/a	n/a
30	POLR2A	chr7:64541164-64542422	GM12892	blood:	n/a	n/a
31	MXI1	chr7:64541042-64542262	SK-N-SH	brain:	n/a	n/a
32	POLR2A	chr7:64541088-64542253	GM12891	blood:	n/a	n/a
33	POLR2A	chr7:64541189-64542406	GM12878	blood:	n/a	n/a
34	POLR2A	chr7:64541280-64542458	GM12891	blood:	n/a	n/a
35	POLR2A	chr7:64541073-64542490	GM12892	blood:	n/a	n/a
36	POLR2A	chr7:64541126-64542144	Hela-S3	cervix:	n/a	n/a
37	POLR2A	chr7:64541035-64542480	GM12878	blood:	n/a	n/a
38	POLR2A	chr7:64541259-64542192	Hela-S3	cervix:	n/a	n/a
39	CEBPB	chr7:64541600-64542303	A549	lung:	n/a	chr7:64541668-64541676

No.	Distal block	Cell Line	Cell type
1	chr2:157191420..157192342-chr7:64541745..64542280,2	Hela-S3	cervix:
2	chr7:64541235..64542233-chr7:65235555..65236448,5	MCF-7	breast:
3	chr7:64541160..64542217-chr7:65235379..65236226,3	HCT-116	colon:
4	chr7:64540231..64542866-chr7:65234211..65237009,2	MCF-7	breast:
5	chr7:64499257..64501633-chr7:64540419..64543070,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000226002	TF binding region

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10227349	1.00[AMR][1000 genomes]
rs10231037	1.00[AMR][1000 genomes]
rs10235111	1.00[AMR][1000 genomes]
rs1965536	1.00[AMR][1000 genomes]
rs2419264	1.00[AMR][1000 genomes]
rs28573332	1.00[AMR][1000 genomes]
rs6460224	1.00[AMR][1000 genomes]
rs6460225	1.00[AMR][1000 genomes]
rs6460227	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2422405	chr7:63709739-64632341	Enhancers Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
2	nsv1022042	chr7:64226499-64566945	Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	esv3506582	chr7:64323055-64563984	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription 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	27 gene(s)	inside rSNPs	diseases
4	esv3506583	chr7:64323055-64563984	Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	esv2752165	chr7:64345822-65208605	Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	nsv888284	chr7:64406439-64562139	ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
7	nsv1033517	chr7:64443052-64942418	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
8	nsv538893	chr7:64443052-64942418	Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
9	nsv1034625	chr7:64456197-64850413	Genic enhancers Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
10	nsv1019089	chr7:64456197-64874187	Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
11	nsv1023699	chr7:64456197-64942418	Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
12	nsv517778	chr7:64462326-65326821	ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
13	nsv429767	chr7:64473713-65415647	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
14	nsv917231	chr7:64478253-65300317	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers 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 miRNA target site	51 gene(s)	inside rSNPs	diseases
15	esv34341	chr7:64478386-65012082	Bivalent/Poised TSS Strong transcription Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
16	esv2752166	chr7:64478386-65208605	Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats 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	36 gene(s)	inside rSNPs	diseases
17	nsv1029796	chr7:64494934-65302696	Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
18	nsv916005	chr7:64499811-65012082	Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
19	nsv533081	chr7:64499945-65208605	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
20	esv3339156	chr7:64510176-65349050	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
21	nsv888285	chr7:64511564-64662075	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
22	nsv888286	chr7:64529883-64800432	Enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
23	esv18831	chr7:64534085-64581674	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
24	nsv888287	chr7:64537992-64990806	Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
25	nsv966822	chr7:64541569-64585100	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:64541000-64542200	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr7:64541000-64542200	Active TSS	H1 Cell Line	embryonic stem cell
3	chr7:64541000-64542200	Active TSS	H9 Cell Line	embryonic stem cell
4	chr7:64541000-64542200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:64541000-64542200	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr7:64541000-64542200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr7:64541000-64542200	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr7:64541000-64542200	Active TSS	iPS-18 Cell Line	embryonic stem cell
9	chr7:64541000-64542200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr7:64541000-64542200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr7:64541000-64542200	Active TSS	Primary T helper cells PMA-I stimulated	--
12	chr7:64541000-64542200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr7:64541000-64542200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr7:64541000-64542200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr7:64541000-64542200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr7:64541000-64542200	Active TSS	Liver	Liver
17	chr7:64541000-64542200	Active TSS	Brain Anterior Caudate	brain
18	chr7:64541000-64542200	Active TSS	Brain Germinal Matrix	brain
19	chr7:64541000-64542200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr7:64541000-64542200	Active TSS	Duodenum Mucosa	Duodenum
21	chr7:64541000-64542200	Active TSS	Esophagus	oesophagus
22	chr7:64541000-64542200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
23	chr7:64541000-64542200	Active TSS	Fetal Kidney	kidney
24	chr7:64541000-64542200	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr7:64541000-64542200	Active TSS	Fetal Muscle Leg	muscle
26	chr7:64541000-64542200	Active TSS	Placenta	Placenta
27	chr7:64541000-64542200	Active TSS	Fetal Stomach	stomach
28	chr7:64541000-64542200	Active TSS	Pancreas	Pancrea
29	chr7:64541000-64542200	Active TSS	Right Atrium	heart
30	chr7:64541000-64542200	Active TSS	Right Ventricle	heart
31	chr7:64541000-64542200	Active TSS	Hela-S3	cervix
32	chr7:64541000-64542200	Active TSS	HSMM	muscle
33	chr7:64541000-64542200	Active TSS	Monocytes-CD14+_RO01746	blood
34	chr7:64541000-64542200	Active TSS	NHEK	skin
35	chr7:64541000-64542400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr7:64541000-64542400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr7:64541000-64542400	Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr7:64541000-64542400	Active TSS	Primary hematopoietic stem cells short term culture	blood
39	chr7:64541000-64542400	Active TSS	Primary T helper cells fromperipheralblood	blood
40	chr7:64541000-64542400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr7:64541000-64542400	Active TSS	Muscle Satellite Cultured Cells	--
42	chr7:64541000-64542400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr7:64541000-64542400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr7:64541000-64542400	Active TSS	Brain Inferior Temporal Lobe	brain
45	chr7:64541000-64542400	Active TSS	Colonic Mucosa	Colon
46	chr7:64541000-64542400	Active TSS	Duodenum Smooth Muscle	Duodenum
47	chr7:64541000-64542400	Active TSS	Fetal Brain Female	brain
48	chr7:64541000-64542400	Active TSS	Rectal Mucosa Donor 31	rectum
49	chr7:64541000-64542400	Active TSS	Skeletal Muscle Male	skeletal muscle
50	chr7:64541000-64542400	Active TSS	Skeletal Muscle Female	skeletal muscle

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