Variant report

Variant	rs6543062
Chromosome Location	chr2:98347139-98347140
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	STAT3	chr2:98346872-98347249	MCF10A-Er-Src	breast:	n/a	chr2:98347121-98347132
2	FOS	chr2:98346691-98347187	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr2:98346786-98347169	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr2:98346926-98347176	MCF10A-Er-Src	breast:	n/a	n/a
5	MYC	chr2:98346719-98347259	MCF10A-Er-Src	breast:	n/a	n/a
6	STAT3	chr2:98346816-98347270	MCF10A-Er-Src	breast:	n/a	chr2:98347121-98347132
7	MYC	chr2:98346789-98347266	MCF10A-Er-Src	breast:	n/a	n/a
8	STAT3	chr2:98346875-98347257	MCF10A-Er-Src	breast:	n/a	chr2:98347121-98347132
9	STAT3	chr2:98346996-98347196	MCF10A-Er-Src	breast:	n/a	chr2:98347121-98347132
10	FOS	chr2:98346687-98347247	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:98343226..98345412-chr2:98346689..98348407,3	K562	blood:
2	chr2:98346943..98349545-chr2:98349557..98351669,3	K562	blood:

Variant related genes	Relation type
ZAP70	TF binding region
ENSG00000115085	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs58332522	0.93[AFR][1000 genomes]
rs61043662	0.87[AFR][1000 genomes]
rs72942846	0.87[AFR][1000 genomes]
rs72942852	0.87[AFR][1000 genomes]
rs72942859	0.87[AFR][1000 genomes]
rs72942873	0.87[AFR][1000 genomes]
rs72944402	0.97[AFR][1000 genomes]
rs72946404	0.90[AFR][1000 genomes]
rs72946446	0.97[AFR][1000 genomes]
rs72946451	0.97[AFR][1000 genomes]
rs72951139	1.00[AFR][1000 genomes]
rs72951143	1.00[AFR][1000 genomes]
rs72951144	1.00[AFR][1000 genomes]
rs72951153	1.00[AFR][1000 genomes]
rs72951165	0.97[AFR][1000 genomes]
rs72951167	0.90[AFR][1000 genomes]

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	nsv531382	chr2:98250628-98457616	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv874696	chr2:98309882-98362907	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98336200-98351200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr2:98336400-98361400	Weak transcription	Primary B cells from cord blood	blood
3	chr2:98336600-98358800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr2:98337800-98357400	Strong transcription	Dnd41	blood
5	chr2:98338800-98358800	Strong transcription	Thymus	Thymus
6	chr2:98339600-98357200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr2:98341000-98354800	Weak transcription	Gastric	stomach
8	chr2:98341800-98348000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr2:98342000-98347200	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr2:98342600-98357200	Strong transcription	Primary T cells from cord blood	blood
11	chr2:98343600-98357200	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr2:98344800-98356400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr2:98344800-98356800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr2:98345000-98347600	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr2:98345000-98366400	Weak transcription	Duodenum Mucosa	Duodenum
16	chr2:98345800-98348400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
17	chr2:98346000-98357000	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr2:98346200-98347200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr2:98346600-98347200	ZNF genes & repeats	Fetal Muscle Leg	muscle
20	chr2:98346600-98347200	ZNF genes & repeats	Spleen	Spleen
21	chr2:98346800-98347200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr2:98346800-98348200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr2:98346800-98350800	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr2:98346800-98351200	Genic enhancers	Primary T cells fromperipheralblood	blood
25	chr2:98347000-98347200	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr2:98347000-98347200	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr2:98347000-98347200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr2:98347000-98348800	Strong transcription	Fetal Thymus	thymus
29	chr2:98347000-98349000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
30	chr2:98347000-98349200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr2:98347000-98360600	Weak transcription	Skeletal Muscle Female	skeletal muscle

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