Variant report

Variant	rs17152987
Chromosome Location	chr10:6318458-6318459
allele	A/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	EP300	chr10:6316824-6318461	A549	lung:	n/a	chr10:6318264-6318271
2	GATA3	chr10:6316906-6318578	A549	lung:	n/a	chr10:6318463-6318473 chr10:6318466-6318473

No.	Distal block	Cell Line	Cell type
1	chr10:6242922..6247696-chr10:6316001..6319432,5	MCF-7	breast:
2	chr10:6317151..6318680-chr10:6338144..6339760,2	MCF-7	breast:
3	chr10:6315744..6318557-chr10:6324362..6327145,2	MCF-7	breast:

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

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12218210	1.00[YRI][hapmap]
rs12220818	1.00[YRI][hapmap]

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:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:6313800-6321000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr10:6314400-6321800	Weak transcription	Gastric	stomach
3	chr10:6315200-6318800	Enhancers	Fetal Lung	lung
4	chr10:6316400-6318600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr10:6316600-6318600	Enhancers	Small Intestine	intestine
6	chr10:6316600-6321600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr10:6317000-6318600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr10:6317000-6318600	Enhancers	Fetal Stomach	stomach
9	chr10:6317200-6318600	Enhancers	Brain Germinal Matrix	brain
10	chr10:6317400-6320600	Weak transcription	Fetal Intestine Large	intestine
11	chr10:6317400-6320800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr10:6317400-6321000	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr10:6317400-6321400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr10:6317400-6321800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr10:6317400-6321800	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr10:6317600-6318600	Enhancers	Liver	Liver
17	chr10:6317600-6320600	Weak transcription	K562	blood
18	chr10:6317600-6321600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr10:6317600-6321600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr10:6317600-6322200	Weak transcription	Right Atrium	heart
21	chr10:6317800-6318600	Enhancers	Brain Hippocampus Middle	brain
22	chr10:6317800-6322000	Weak transcription	Brain Anterior Caudate	brain
23	chr10:6317800-6332600	Weak transcription	Thymus	Thymus
24	chr10:6318000-6318600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr10:6318000-6319200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr10:6318000-6320800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr10:6318000-6320800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr10:6318000-6320800	Weak transcription	Stomach Mucosa	stomach
29	chr10:6318000-6321200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr10:6318000-6321400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr10:6318000-6321400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr10:6318000-6321400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr10:6318000-6321600	Weak transcription	HSMMtube	muscle
34	chr10:6318000-6321800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr10:6318000-6321800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr10:6318000-6321800	Weak transcription	Aorta	Aorta
37	chr10:6318000-6321800	Weak transcription	Right Ventricle	heart
38	chr10:6318000-6321800	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr10:6318000-6322000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr10:6318000-6322200	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr10:6318000-6322200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr10:6318000-6322200	Weak transcription	Spleen	Spleen
43	chr10:6318000-6337600	Weak transcription	Primary B cells from cord blood	blood
44	chr10:6318200-6318600	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr10:6318200-6318600	Enhancers	A549	lung
46	chr10:6318200-6318600	Enhancers	Monocytes-CD14+_RO01746	blood
47	chr10:6318200-6319600	Enhancers	Primary neutrophils fromperipheralblood	blood
48	chr10:6318200-6320600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr10:6318200-6320600	Weak transcription	Fetal Intestine Small	intestine
50	chr10:6318200-6320600	Weak transcription	HepG2	liver

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