Variant report

Variant	rs61382911
Chromosome Location	chr2:97561851-97561852
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	JUN	chr2:97560596-97562775	K562	blood:	n/a	chr2:97561556-97561565 chr2:97561555-97561565 chr2:97561555-97561564
2	BHLHE40	chr2:97561740-97562032	K562	blood:	n/a	n/a
3	ZBTB7A	chr2:97561332-97561867	ECC-1	luminal epithelium:	n/a	n/a
4	MAZ	chr2:97560730-97561880	K562	blood:	n/a	chr2:97561707-97561717
5	TCF12	chr2:97560835-97561926	MCF-7	breast:	n/a	chr2:97561224-97561231 chr2:97561539-97561546 chr2:97561309-97561319 chr2:97561614-97561624
6	GATA1	chr2:97560619-97562368	K562	blood:	n/a	n/a
7	CCNT2	chr2:97561816-97562246	K562	blood:	n/a	n/a
8	TCF12	chr2:97561359-97561874	ECC-1	luminal epithelium:	n/a	chr2:97561539-97561546 chr2:97561614-97561624
9	GATA3	chr2:97561184-97561981	MCF-7	breast:	n/a	n/a
10	POLR2A	chr2:97561813-97561969	K562	blood:	n/a	n/a
11	ZNF217	chr2:97561016-97561984	MCF-7	breast:	n/a	n/a
12	POLR2A	chr2:97560672-97561909	K562	blood:	n/a	n/a
13	TCF12	chr2:97561035-97561925	MCF-7	breast:	n/a	chr2:97561224-97561231 chr2:97561539-97561546 chr2:97561309-97561319 chr2:97561614-97561624
14	HMGN3	chr2:97560874-97561933	K562	blood:	n/a	chr2:97561554-97561563
15	ZBTB7A	chr2:97561810-97561990	K562	blood:	n/a	n/a
16	FOSL2	chr2:97561202-97561857	MCF-7	breast:	n/a	chr2:97561556-97561565 chr2:97561555-97561565 chr2:97561555-97561564

No.	Distal block	Cell Line	Cell type
1	chr2:97481114..97483138-chr2:97559703..97563563,4	MCF-7	breast:
2	chr2:97522291..97526078-chr2:97561305..97564829,3	K562	blood:
3	chr2:97531702..97533612-chr2:97560749..97562713,2	K562	blood:

Variant related genes	Relation type
FAM178B	TF binding region
ENSG00000168758	Chromatin interaction
ENSG00000168763	Chromatin interaction
ENSG00000163126	Chromatin interaction
ENSG00000213337	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10169387	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs10182668	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10182965	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11677797	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs11694296	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12613171	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs13383845	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs13410790	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs13421275	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs13423092	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs13425281	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2314650	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28687044	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs4907203	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs4907204	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs4907205	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs4907206	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4907256	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs4907257	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs4907258	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs4907259	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs4907260	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933671	chr2:96739308-97652262	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv1000780	chr2:96740430-97671395	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv535826	chr2:96740430-97671395	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
4	nsv874677	chr2:96756547-97717345	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
5	nsv1001204	chr2:96766559-97728507	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
6	nsv535827	chr2:96766559-97728507	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
7	nsv874680	chr2:97309574-97678319	Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
8	nsv526313	chr2:97333492-97660619	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats 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	nsv874681	chr2:97410949-97577343	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
10	nsv874682	chr2:97423626-97567389	Transcr. at gene 5' and 3' Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97554400-97563400	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr2:97554600-97563400	Weak transcription	Fetal Heart	heart
3	chr2:97556000-97562200	Enhancers	Brain Anterior Caudate	brain
4	chr2:97556200-97562200	Enhancers	Brain Cingulate Gyrus	brain
5	chr2:97556200-97562400	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr2:97556400-97565200	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr2:97556600-97566000	Enhancers	Fetal Thymus	thymus
8	chr2:97556800-97562600	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr2:97557800-97563200	Weak transcription	Osteobl	bone
10	chr2:97558000-97562400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr2:97558200-97572200	Weak transcription	Right Atrium	heart
12	chr2:97558600-97566200	Enhancers	Fetal Muscle Leg	muscle
13	chr2:97559600-97565800	Enhancers	HSMM	muscle
14	chr2:97560400-97562800	Enhancers	Ovary	ovary
15	chr2:97560600-97562200	Enhancers	Brain Angular Gyrus	brain
16	chr2:97560600-97562400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
17	chr2:97560600-97562400	Enhancers	Brain Substantia Nigra	brain
18	chr2:97560600-97562600	Enhancers	Primary T cells from cord blood	blood
19	chr2:97560600-97562600	Enhancers	Brain Hippocampus Middle	brain
20	chr2:97560600-97562600	Enhancers	Fetal Stomach	stomach
21	chr2:97560600-97562600	Enhancers	Lung	lung
22	chr2:97560600-97563400	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr2:97560600-97566600	Enhancers	Placenta	Placenta
24	chr2:97560800-97562000	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr2:97560800-97562200	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr2:97560800-97562200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr2:97560800-97562200	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr2:97560800-97562200	Enhancers	Fetal Lung	lung
29	chr2:97560800-97562200	Enhancers	HSMMtube	muscle
30	chr2:97560800-97562400	Enhancers	Colon Smooth Muscle	Colon
31	chr2:97560800-97562400	Enhancers	Fetal Intestine Small	intestine
32	chr2:97560800-97562400	Enhancers	Small Intestine	intestine
33	chr2:97560800-97562600	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr2:97560800-97562600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr2:97560800-97562600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
36	chr2:97560800-97562600	Enhancers	Fetal Brain Male	brain
37	chr2:97560800-97562800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr2:97560800-97563000	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr2:97560800-97565400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr2:97561000-97562000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
41	chr2:97561000-97562000	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr2:97561000-97562000	Enhancers	Muscle Satellite Cultured Cells	--
43	chr2:97561000-97562400	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr2:97561000-97562400	Enhancers	Duodenum Mucosa	Duodenum
45	chr2:97561000-97562400	Enhancers	Rectal Smooth Muscle	rectum
46	chr2:97561000-97562600	Enhancers	Primary hematopoietic stem cells	blood
47	chr2:97561000-97562600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr2:97561000-97562600	Enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr2:97561000-97562600	Enhancers	Primary T killer memory cells from peripheral blood	blood
50	chr2:97561000-97562600	Bivalent Enhancer	Fetal Muscle Trunk	muscle

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