Variant report

Variant	rs139873190
Chromosome Location	chr9:93563504-93563505
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	POLR2A	chr9:93563396-93564672	GM12878	blood:	n/a	n/a
2	MAX	chr9:93563496-93564477	H1-hESC	embryonic stem cell:	n/a	n/a
3	MAX	chr9:93563426-93564650	NB4	blood:	n/a	n/a
4	POLR2A	chr9:93562803-93565322	GM12891	blood:	n/a	n/a
5	CTCF	chr9:93563480-93563630	GM12873	blood:	n/a	n/a
6	CTCF	chr9:93563500-93563650	GM12864	blood:	n/a	n/a
7	POLR2A	chr9:93563442-93564778	PBDE	blood:	n/a	n/a
8	POLR2A	chr9:93562865-93564666	GM19193	blood:	n/a	n/a
9	POLR2A	chr9:93563480-93564273	GM12878	blood:	n/a	n/a
10	POLR2A	chr9:93563437-93564845	GM12892	blood:	n/a	n/a
11	POLR2A	chr9:93563494-93563677	GM12878	blood:	n/a	n/a
12	POLR2A	chr9:93563436-93564784	GM18951	blood:	n/a	n/a
13	POLR2A	chr9:93562858-93564727	GM12878	blood:	n/a	n/a
14	POLR2A	chr9:93562373-93564761	GM19099	blood:	n/a	n/a
15	POLR2A	chr9:93563468-93564665	GM18526	blood:	n/a	n/a
16	POLR2A	chr9:93563302-93565064	HL-60	blood:	n/a	n/a
17	POLR2A	chr9:93563017-93564724	NB4	blood:	n/a	n/a
18	MAX	chr9:93563501-93564142	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr9:93562921-93564604	GM15510	blood:	n/a	n/a
20	ZNF263	chr9:93563392-93564746	HEK293-T-REx	kidney:	n/a	chr9:93563785-93563794
21	POLR2A	chr9:93562377-93564915	Raji	blood:	n/a	n/a
22	POLR2A	chr9:93563471-93564834	GM18505	blood:	n/a	n/a
23	CTCF	chr9:93563480-93563630	HEK293	kidney:	n/a	n/a
24	E2F6	chr9:93563456-93564537	H1-hESC	embryonic stem cell:	n/a	chr9:93563947-93563958 chr9:93563899-93563909 chr9:93564104-93564114 chr9:93563998-93564007 chr9:93564107-93564117
25	ZEB1	chr9:93563463-93564620	GM12878	blood:	n/a	chr9:93564162-93564169
26	CTCF	chr9:93563480-93563630	GM12871	blood:	n/a	n/a
27	CTBP2	chr9:93563441-93564584	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr9:93563492-93564350	GM10847	blood:	n/a	n/a
29	POLR2A	chr9:93563397-93564463	GM12892	blood:	n/a	n/a
30	POLR2A	chr9:93563382-93564639	HL-60	blood:	n/a	n/a
31	HA-E2F1	chr9:93563409-93564807	MCF-7	breast:	n/a	chr9:93563899-93563909 chr9:93564104-93564114 chr9:93563998-93564007 chr9:93564107-93564117

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:93561901..93563996-chr9:93577117..93579715,2	MCF-7	breast:

Variant related genes	Relation type
SYK	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046989	chr9:93353987-93800416	Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv893567	chr9:93519280-93609668	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv831652	chr9:93527411-93696923	Bivalent Enhancer Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv893568	chr9:93539879-93774385	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv893569	chr9:93552550-93587089	Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1038685	chr9:93556174-93685729	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	esv1813758	chr9:93557698-93573095	Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	esv3387417	chr9:93562956-93565504	Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:93559000-93563800	Weak transcription	Gastric	stomach
2	chr9:93561200-93564000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr9:93562800-93563800	Enhancers	Spleen	Spleen
4	chr9:93563000-93563800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
5	chr9:93563000-93563800	Bivalent Enhancer	Brain Hippocampus Middle	brain
6	chr9:93563200-93563600	Bivalent Enhancer	Brain Germinal Matrix	brain
7	chr9:93563200-93563800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr9:93563200-93564000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr9:93563200-93564600	Flanking Active TSS	Primary B cells from cord blood	blood
10	chr9:93563200-93568000	Flanking Active TSS	Primary hematopoietic stem cells	blood
11	chr9:93563400-93563600	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr9:93563400-93563600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr9:93563400-93563600	Flanking Active TSS	H9 Cell Line	embryonic stem cell
14	chr9:93563400-93563600	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
15	chr9:93563400-93563600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
16	chr9:93563400-93563600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
17	chr9:93563400-93563600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr9:93563400-93563600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr9:93563400-93563600	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
20	chr9:93563400-93563600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr9:93563400-93563600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr9:93563400-93563600	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
23	chr9:93563400-93563600	Bivalent Enhancer	Colonic Mucosa	Colon
24	chr9:93563400-93563600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
25	chr9:93563400-93563600	Flanking Active TSS	Fetal Intestine Small	intestine
26	chr9:93563400-93563600	Flanking Bivalent TSS/Enh	Fetal Lung	lung
27	chr9:93563400-93563600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
28	chr9:93563400-93563600	Bivalent Enhancer	Placenta	Placenta
29	chr9:93563400-93563600	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
30	chr9:93563400-93563600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
31	chr9:93563400-93563600	Active TSS	HMEC	breast
32	chr9:93563400-93563600	Flanking Bivalent TSS/Enh	NHEK	skin
33	chr9:93563400-93563800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
34	chr9:93563400-93563800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
35	chr9:93563400-93563800	Flanking Active TSS	Primary B cells from peripheral blood	blood
36	chr9:93563400-93563800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
37	chr9:93563400-93563800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
38	chr9:93563400-93563800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr9:93563400-93563800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
40	chr9:93563400-93563800	Flanking Active TSS	Duodenum Mucosa	Duodenum
41	chr9:93563400-93563800	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
42	chr9:93563400-93563800	Flanking Active TSS	Fetal Thymus	thymus
43	chr9:93563400-93563800	Flanking Active TSS	Pancreas	Pancrea
44	chr9:93563400-93563800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
45	chr9:93563400-93563800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
46	chr9:93563400-93563800	Flanking Active TSS	Stomach Mucosa	stomach
47	chr9:93563400-93563800	Flanking Active TSS	Thymus	Thymus
48	chr9:93563400-93563800	Flanking Active TSS	GM12878-XiMat	blood
49	chr9:93563400-93563800	Flanking Active TSS	K562	blood
50	chr9:93563400-93564000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood

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