Variant report

Variant	rs10992630
Chromosome Location	chr9:95855100-95855101
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD2	chr9:95855018-95855155	GM12878	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:95832455..95836206-chr9:95854622..95857563,3	K562	blood:
2	chr9:95853194..95855867-chr9:95863177..95866078,2	MCF-7	breast:
3	chr9:95828110..95830344-chr9:95853577..95856125,2	K562	blood:
4	chr9:95816364..95826268-chr9:95852309..95863275,20	MCF-7	breast:
5	chr9:95838033..95840952-chr9:95852515..95855159,2	MCF-7	breast:
6	chr9:95839549..95841573-chr9:95854278..95856660,2	MCF-7	breast:
7	chr9:95855064..95861522-chr9:95867449..95872462,10	MCF-7	breast:
8	chr9:95797817..95800116-chr9:95854194..95855844,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NINJ1-1	chr9:95854274-95855174	NONHSAT133230

No data

Variant related genes	Relation type
C9orf89	TF binding region
ENSG00000157303	Chromatin interaction
ENSG00000165233	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1127851	0.85[JPT][hapmap]
rs1970623	0.93[JPT][hapmap]
rs2275848	0.86[JPT][hapmap]
rs4743886	0.93[JPT][hapmap]
rs6479454	0.86[JPT][hapmap]
rs7875586	0.86[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526296	chr9:95708192-96030392	Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv1054767	chr9:95738134-95875977	Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv1035230	chr9:95770249-95934982	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv893576	chr9:95789960-96158277	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	esv1824329	chr9:95811604-95921347	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv893577	chr9:95812707-95872216	Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Weak transcription Strong transcription 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	17 gene(s)	inside rSNPs	diseases
7	nsv893578	chr9:95818641-95887320	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	nsv893579	chr9:95855100-95923091	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
9	nsv893580	chr9:95855100-96099377	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:95834400-95857400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr9:95836200-95855600	Weak transcription	Stomach Smooth Muscle	stomach
3	chr9:95840400-95857000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr9:95845200-95857200	Weak transcription	Small Intestine	intestine
5	chr9:95846400-95857000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr9:95848400-95855400	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr9:95848400-95855800	Weak transcription	Liver	Liver
8	chr9:95848600-95857000	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr9:95848800-95855400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr9:95848800-95855600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr9:95849400-95855200	Weak transcription	Fetal Kidney	kidney
12	chr9:95849400-95857400	Weak transcription	Ovary	ovary
13	chr9:95849600-95855200	Weak transcription	Fetal Intestine Small	intestine
14	chr9:95850400-95855400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr9:95851400-95855200	Weak transcription	Thymus	Thymus
16	chr9:95851800-95855400	Weak transcription	K562	blood
17	chr9:95852200-95855400	Weak transcription	Primary T cells from cord blood	blood
18	chr9:95852600-95856800	Enhancers	Primary B cells from peripheral blood	blood
19	chr9:95853400-95857000	Enhancers	Primary B cells from cord blood	blood
20	chr9:95853400-95857200	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr9:95853400-95857200	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr9:95853600-95855200	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr9:95853600-95856800	Enhancers	HepG2	liver
24	chr9:95853600-95857200	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr9:95853800-95857200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr9:95854000-95855200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr9:95854000-95855200	Enhancers	NHLF	lung
28	chr9:95854000-95855400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr9:95854000-95856000	Enhancers	Hela-S3	cervix
30	chr9:95854000-95856200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr9:95854000-95856600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr9:95854000-95857000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr9:95854000-95857200	Enhancers	Primary T cells fromperipheralblood	blood
34	chr9:95854000-95857200	Enhancers	Spleen	Spleen
35	chr9:95854000-95857400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr9:95854000-95857400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr9:95854200-95856000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr9:95854200-95857000	Weak transcription	A549	lung
39	chr9:95854200-95857200	Weak transcription	Gastric	stomach
40	chr9:95854400-95855600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr9:95854400-95857200	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr9:95854400-95857400	Enhancers	Primary hematopoietic stem cells	blood
43	chr9:95854400-95857400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
44	chr9:95854400-95857400	Enhancers	Fetal Muscle Trunk	muscle
45	chr9:95854400-95857400	Enhancers	Fetal Muscle Leg	muscle
46	chr9:95854400-95857400	Enhancers	Placenta	Placenta
47	chr9:95854600-95855800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr9:95854600-95857000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
49	chr9:95854600-95857200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
50	chr9:95854600-95857200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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