Variant report

Variant	rs2000173
Chromosome Location	chr10:6316121-6316122
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:25)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:25 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr10:6315931-6316562	A549	lung:	n/a	n/a
2	CEBPB	chr10:6316054-6316330	K562	blood:	n/a	n/a
3	CEBPB	chr10:6316087-6316288	HepG2	liver:	n/a	n/a
4	CEBPB	chr10:6316010-6316666	A549	lung:	n/a	n/a
5	MYBL2	chr10:6315983-6316436	HepG2	liver:	n/a	n/a
6	ZNF384	chr10:6316024-6316324	K562	blood:	n/a	n/a
7	CEBPB	chr10:6315970-6316423	HepG2	liver:	n/a	n/a
8	CEBPB	chr10:6316038-6316557	K562	blood:	n/a	n/a
9	CEBPD	chr10:6316119-6316365	HepG2	liver:	n/a	n/a
10	CEBPB	chr10:6315994-6316395	K562	blood:	n/a	n/a
11	EP300	chr10:6315890-6316452	HepG2	liver:	n/a	n/a
12	CEBPB	chr10:6315992-6316395	HepG2	liver:	n/a	n/a
13	STAT3	chr10:6316036-6316414	MCF10A-Er-Src	breast:	n/a	n/a
14	STAT3	chr10:6316038-6316696	MCF10A-Er-Src	breast:	n/a	n/a
15	CEBPB	chr10:6316056-6316383	Hela-S3	cervix:	n/a	n/a
16	FOS	chr10:6316036-6316381	MCF10A-Er-Src	breast:	n/a	n/a
17	CEBPB	chr10:6315967-6316403	A549	lung:	n/a	n/a
18	FOXA2	chr10:6316064-6316331	HepG2	liver:	n/a	n/a
19	HNF4A	chr10:6316050-6316312	HepG2	liver:	n/a	n/a
20	FOS	chr10:6316041-6316384	MCF10A-Er-Src	breast:	n/a	n/a
21	CEBPB	chr10:6316009-6316416	HepG2	liver:	n/a	n/a
22	CEBPB	chr10:6316033-6316412	IMR90	lung:	n/a	n/a
23	HDAC2	chr10:6316026-6316324	HepG2	liver:	n/a	n/a
24	STAT3	chr10:6316046-6316625	MCF10A-Er-Src	breast:	n/a	n/a
25	CEBPB	chr10:6315956-6316473	MCF-7	breast:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:6242922..6247696-chr10:6316001..6319432,5	MCF-7	breast:
2	chr10:6298094..6299703-chr10:6315847..6318210,2	K562	blood:
3	chr10:6282149..6284727-chr10:6315762..6318324,2	MCF-7	breast:
4	chr10:6263461..6265424-chr10:6315540..6318347,2	K562	blood:
5	chr10:6315744..6318557-chr10:6324362..6327145,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000215244	TF binding region
ENSG00000170525	Chromatin interaction
ENSG00000213994	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2000175	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2387150	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4347290	0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7077335	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042286	chr10:5795129-6578445	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer 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	76 gene(s)	inside rSNPs	diseases
2	nsv1040721	chr10:6155144-6322566	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription 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 miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv540476	chr10:6155144-6322566	Genic enhancers Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv1054044	chr10:6155144-6487217	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer 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	40 gene(s)	inside rSNPs	diseases
5	nsv1041039	chr10:6217724-6354858	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	nsv894836	chr10:6246678-6435374	Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv430123	chr10:6309402-6448384	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:6309600-6317000	Weak transcription	Brain Cingulate Gyrus	brain
2	chr10:6309600-6317000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr10:6309600-6317200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr10:6312800-6316400	Weak transcription	Primary B cells from cord blood	blood
5	chr10:6312800-6316600	Weak transcription	NHEK	skin
6	chr10:6312800-6316800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr10:6312800-6317000	Weak transcription	Spleen	Spleen
8	chr10:6313200-6316400	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr10:6313200-6316600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr10:6313200-6316800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr10:6313200-6316800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr10:6313400-6316400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr10:6313400-6316400	Weak transcription	Primary hematopoietic stem cells	blood
14	chr10:6313400-6316600	Weak transcription	Small Intestine	intestine
15	chr10:6313400-6316800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr10:6313400-6317000	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr10:6313400-6317200	Weak transcription	Fetal Intestine Small	intestine
18	chr10:6313400-6317200	Weak transcription	Thymus	Thymus
19	chr10:6313600-6316800	Weak transcription	HSMMtube	muscle
20	chr10:6313600-6317000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr10:6313600-6317000	Weak transcription	Fetal Thymus	thymus
22	chr10:6313800-6316800	Weak transcription	Brain Anterior Caudate	brain
23	chr10:6313800-6317000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr10:6313800-6317000	Weak transcription	Primary B cells from peripheral blood	blood
25	chr10:6313800-6317000	Weak transcription	Primary T cells from cord blood	blood
26	chr10:6313800-6317000	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr10:6313800-6317000	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr10:6313800-6321000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr10:6314000-6316600	Weak transcription	HMEC	breast
30	chr10:6314000-6316800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr10:6314200-6316600	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr10:6314200-6316800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr10:6314200-6316800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr10:6314200-6316800	Weak transcription	GM12878-XiMat	blood
35	chr10:6314200-6317000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr10:6314200-6317000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr10:6314200-6317000	Weak transcription	Brain Hippocampus Middle	brain
38	chr10:6314200-6317000	Weak transcription	Duodenum Mucosa	Duodenum
39	chr10:6314200-6317000	Weak transcription	Esophagus	oesophagus
40	chr10:6314200-6317000	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr10:6314200-6317000	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr10:6314200-6317000	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr10:6314400-6316600	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr10:6314400-6316600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr10:6314400-6316800	Weak transcription	Brain Substantia Nigra	brain
46	chr10:6314400-6316800	Weak transcription	Stomach Mucosa	stomach
47	chr10:6314400-6317000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr10:6314400-6317000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr10:6314400-6317000	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr10:6314400-6321800	Weak transcription	Gastric	stomach

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