Variant report

Variant	rs34891619
Chromosome Location	chr9:102699494-102699495
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	chr9:102699185-102699603	MCF10A-Er-Src	breast:	n/a	n/a
2	KAP1	chr9:102699324-102699994	K562	blood:	n/a	n/a
3	SETDB1	chr9:102699209-102699879	U2OS	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:102668815..102670753-chr9:102697540..102700821,3	K562	blood:
2	chr9:102697113..102699966-chr9:102742596..102744676,2	K562	blood:
3	chr9:102668815..102670753-chr9:102698922..102700821,2	K562	blood:

Variant related genes	Relation type
STX17	TF binding region
ENSG00000136874	Chromatin interaction
ENSG00000255145	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13283434	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs13297165	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs34074593	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34359782	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs34632004	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs34727728	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs35066144	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35132689	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs35476201	1.00[AMR][1000 genomes]
rs35722336	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs35906540	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs45598240	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs71503724	1.00[AFR][1000 genomes]
rs71503725	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71503726	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71503728	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529618	chr9:102227922-103044018	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv531599	chr9:102227922-103156864	Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv831668	chr9:102568169-102747293	Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv893623	chr9:102648036-103405197	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
5	nsv1050510	chr9:102684318-102748658	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:102669800-102729800	Weak transcription	Small Intestine	intestine
2	chr9:102671200-102719200	Weak transcription	Fetal Heart	heart
3	chr9:102680000-102710800	Weak transcription	HUVEC	blood vessel
4	chr9:102680400-102724800	Weak transcription	HSMM	muscle
5	chr9:102682600-102751400	Weak transcription	NH-A	brain
6	chr9:102684400-102720600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr9:102685000-102710000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr9:102685000-102731600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr9:102685200-102730200	Weak transcription	NHLF	lung
10	chr9:102686200-102730000	Weak transcription	Colonic Mucosa	Colon
11	chr9:102686400-102712800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr9:102686400-102713000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr9:102686400-102723400	Weak transcription	Colon Smooth Muscle	Colon
14	chr9:102686400-102750800	Weak transcription	Esophagus	oesophagus
15	chr9:102686600-102700200	Weak transcription	Aorta	Aorta
16	chr9:102686600-102713400	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr9:102686600-102730800	Weak transcription	Ovary	ovary
18	chr9:102686600-102750800	Weak transcription	Gastric	stomach
19	chr9:102686800-102722800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr9:102687800-102722200	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr9:102688200-102713400	Weak transcription	Dnd41	blood
22	chr9:102688400-102710800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr9:102689400-102713400	Weak transcription	Left Ventricle	heart
24	chr9:102689400-102713400	Weak transcription	Rectal Smooth Muscle	rectum
25	chr9:102689600-102701000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr9:102692000-102704800	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr9:102692800-102713400	Weak transcription	Fetal Thymus	thymus
28	chr9:102693000-102723000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr9:102694000-102713400	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr9:102694000-102721600	Weak transcription	Fetal Stomach	stomach
31	chr9:102695800-102701600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr9:102697600-102700000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr9:102698000-102699800	ZNF genes & repeats	Primary T cells from cord blood	blood
34	chr9:102698200-102700800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr9:102698400-102728600	Weak transcription	HMEC	breast
36	chr9:102698400-102728800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr9:102698600-102713600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr9:102699000-102700000	Strong transcription	A549	lung
39	chr9:102699000-102700200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr9:102699000-102700200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr9:102699200-102699600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr9:102699200-102699600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
43	chr9:102699200-102699800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
44	chr9:102699200-102699800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
45	chr9:102699200-102700600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr9:102699400-102699800	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr9:102699400-102699800	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
48	chr9:102699400-102699800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
49	chr9:102699400-102699800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
50	chr9:102699400-102699800	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood

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