Variant report

Variant	rs1106192
Chromosome Location	chr9:95896586-95896587
allele	C/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	UBTF	chr9:95895674-95897071	K562	blood:	n/a	n/a
2	POU2F2	chr9:95895572-95897193	GM12878	blood:	n/a	chr9:95896401-95896413 chr9:95896208-95896220
3	POLR2A	chr9:95896263-95896904	SK-N-MC	brain:	n/a	n/a
4	SP1	chr9:95895653-95897179	GM12878	blood:	n/a	chr9:95896638-95896647 chr9:95896623-95896637 chr9:95896222-95896234 chr9:95896636-95896648 chr9:95896210-95896220 chr9:95896222-95896234 chr9:95897085-95897098
5	EGR1	chr9:95895743-95897237	HCT-116	colon:	n/a	chr9:95896211-95896226 chr9:95896225-95896238 chr9:95896209-95896223 chr9:95896079-95896089 chr9:95896891-95896901 chr9:95896223-95896233 chr9:95896196-95896206 chr9:95896734-95896747 chr9:95896212-95896225 chr9:95896350-95896360 chr9:95896570-95896584 chr9:95896736-95896746 chr9:95896204-95896217 chr9:95896625-95896638 chr9:95896162-95896171 chr9:95896235-95896249
6	TAF1	chr9:95895803-95896827	HepG2	liver:	n/a	n/a
7	CREB1	chr9:95896310-95896910	A549	lung:	n/a	n/a
8	JUND	chr9:95895752-95897197	K562	blood:	n/a	chr9:95897129-95897141 chr9:95897131-95897139 chr9:95897132-95897143 chr9:95897129-95897140
9	EGR1	chr9:95895945-95897121	ECC-1	luminal epithelium:	n/a	chr9:95896211-95896226 chr9:95896225-95896238 chr9:95896209-95896223 chr9:95896079-95896089 chr9:95896891-95896901 chr9:95896223-95896233 chr9:95896196-95896206 chr9:95896734-95896747 chr9:95896212-95896225 chr9:95896350-95896360 chr9:95896570-95896584 chr9:95896736-95896746 chr9:95896204-95896217 chr9:95896625-95896638 chr9:95896162-95896171 chr9:95896235-95896249
10	EBF1	chr9:95896181-95897357	GM12878	blood:	n/a	chr9:95896755-95896766
11	YY1	chr9:95895692-95896795	HepG2	liver:	n/a	chr9:95896180-95896191 chr9:95896192-95896206 chr9:95896632-95896646 chr9:95896142-95896151 chr9:95896002-95896011
12	HMGN3	chr9:95895748-95897270	K562	blood:	n/a	chr9:95897129-95897138 chr9:95897132-95897141
13	POLR2A	chr9:95896253-95896998	U87	brain:	n/a	n/a
14	POLR2A	chr9:95895853-95897033	K562	blood:	n/a	n/a
15	NR2F2	chr9:95894559-95897264	MCF-7	breast:	n/a	n/a
16	ZNF143	chr9:95896305-95897176	GM12878	blood:	n/a	n/a
17	POLR2A	chr9:95894029-95897139	GM12878	blood:	n/a	n/a
18	RELA	chr9:95896364-95897207	GM18505	blood:	n/a	n/a
19	SP4	chr9:95896578-95896821	H1-hESC	embryonic stem cell:	n/a	n/a
20	PML	chr9:95895567-95897268	GM12878	blood:	n/a	n/a
21	POLR2A	chr9:95896248-95896845	HepG2	liver:	n/a	n/a
22	POLR2A	chr9:95895741-95897130	GM18505	blood:	n/a	n/a
23	POLR2A	chr9:95896289-95896820	A549	lung:	n/a	n/a
24	POLR2A	chr9:95895651-95897198	GM12892	blood:	n/a	n/a
25	POLR2A	chr9:95895408-95897195	GM12878	blood:	n/a	n/a
26	EP300	chr9:95896373-95897185	GM12878	blood:	n/a	n/a
27	SIN3AK20	chr9:95896159-95896590	H1-hESC	embryonic stem cell:	n/a	n/a
28	ZBTB7A	chr9:95896569-95896760	HepG2	liver:	n/a	chr9:95896738-95896747
29	POLR2A	chr9:95895434-95897214	HL-60	blood:	n/a	n/a
30	RFX5	chr9:95895781-95897132	Hela-S3	cervix:	n/a	chr9:95896922-95896937 chr9:95896964-95896979
31	POLR2A	chr9:95895864-95896891	A549	lung:	n/a	n/a
32	PAX5	chr9:95896582-95897246	GM12878	blood:	n/a	n/a
33	E2F6	chr9:95896165-95897034	K562	blood:	n/a	chr9:95896647-95896657 chr9:95896280-95896292
34	YY1	chr9:95896314-95896698	K562	blood:	n/a	chr9:95896632-95896646
35	EGR1	chr9:95896050-95896996	H1-hESC	embryonic stem cell:	n/a	chr9:95896211-95896226 chr9:95896225-95896238 chr9:95896209-95896223 chr9:95896079-95896089 chr9:95896891-95896901 chr9:95896223-95896233 chr9:95896196-95896206 chr9:95896734-95896747 chr9:95896212-95896225 chr9:95896350-95896360 chr9:95896570-95896584 chr9:95896736-95896746 chr9:95896204-95896217 chr9:95896625-95896638 chr9:95896162-95896171 chr9:95896235-95896249
36	MAX	chr9:95895509-95897073	Hela-S3	cervix:	n/a	chr9:95896208-95896217
37	ZNF263	chr9:95895795-95897014	HEK293-T-REx	kidney:	n/a	n/a
38	POLR2A	chr9:95896278-95896776	SK-N-SH	brain:	n/a	n/a
39	JUND	chr9:95896306-95896975	A549	lung:	n/a	n/a
40	CEBPB	chr9:95895517-95897042	Hela-S3	cervix:	n/a	n/a
41	BHLHE40	chr9:95896365-95896841	K562	blood:	n/a	n/a
42	POLR2A	chr9:95896139-95896928	ProgFib	skin:	n/a	n/a
43	TAF1	chr9:95895772-95896913	HepG2	liver:	n/a	n/a
44	POLR2A	chr9:95894455-95897212	HepG2	liver:	n/a	n/a
45	TBP	chr9:95895536-95896714	HepG2	liver:	n/a	n/a
46	POLR2A	chr9:95896247-95896815	HepG2	liver:	n/a	n/a
47	MAZ	chr9:95895762-95897160	K562	blood:	n/a	chr9:95897131-95897140 chr9:95896208-95896217
48	MAX	chr9:95894491-95897219	HepG2	liver:	n/a	chr9:95897159-95897169 chr9:95897131-95897140 chr9:95896208-95896217
49	MAX	chr9:95895754-95897096	ECC-1	luminal epithelium:	n/a	chr9:95896208-95896217
50	EP300	chr9:95896458-95897238	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:95870960..95873239-chr9:95894940..95897821,4	MCF-7	breast:
2	chr9:95895042..95899051-chr9:95945154..95949540,5	MCF-7	breast:
3	chr9:95818120..95822805-chr9:95894646..95898384,4	K562	blood:
4	chr15:96874474..96876437-chr9:95895214..95896846,2	MCF-7	breast:
5	chr9:95893830..95897202-chr9:96212872..96217148,4	MCF-7	breast:
6	chr9:95856253..95862485-chr9:95892353..95899486,12	MCF-7	breast:
7	chr9:95733025..95737240-chr9:95894074..95898257,5	MCF-7	breast:
8	chr9:95895341..95897817-chr9:99179220..99181040,2	MCF-7	breast:
9	chr9:95895047..95897771-chr9:96069097..96071737,2	MCF-7	breast:
10	chr9:95895154..95898000-chr9:96338001..96340609,3	MCF-7	breast:
11	chr3:67704924..67705468-chr9:95896136..95896742,2	NB4	blood:
12	chr9:95819594..95823966-chr9:95894549..95897415,5	MCF-7	breast:
13	chr9:95894765..95898074-chr9:96066261..96068998,4	MCF-7	breast:
14	chr9:95894803..95898160-chr9:96337820..96340366,3	MCF-7	breast:
15	chr9:95895534..95897628-chr9:96214404..96216660,2	MCF-7	breast:
16	chr9:95855662..95862507-chr9:95894736..95899302,16	MCF-7	breast:

Variant related genes	Relation type
NINJ1	TF binding region
ENSG00000241316	Chromatin interaction
ENSG00000157303	Chromatin interaction
ENSG00000048828	Chromatin interaction
ENSG00000172340	Chromatin interaction
ENSG00000185551	Chromatin interaction
ENSG00000165233	Chromatin interaction
ENSG00000197724	Chromatin interaction
ENSG00000165238	Chromatin interaction
ENSG00000165244	Chromatin interaction
ENSG00000188938	Chromatin interaction
ENSG00000127084	Chromatin interaction
ENSG00000223446	Chromatin interaction

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

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

rs_ID	r²[population]
rs12342200	0.84[EUR][1000 genomes]
rs73524733	0.84[EUR][1000 genomes]

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	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
3	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
4	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
5	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
6	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
7	nsv893581	chr9:95872216-95930334	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	nsv614879	chr9:95883363-95897564	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
9	nsv824982	chr9:95895045-95897753	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:95890400-95896600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
2	chr9:95894800-95897200	Active TSS	Aorta	Aorta
3	chr9:95895000-95897200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr9:95895000-95897400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
5	chr9:95895200-95897000	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr9:95895200-95897200	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr9:95895400-95896800	Active TSS	Fetal Brain Female	brain
8	chr9:95895400-95897000	Active TSS	H9 Cell Line	embryonic stem cell
9	chr9:95895400-95897000	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr9:95895400-95897000	Active TSS	Right Atrium	heart
11	chr9:95895400-95897200	Active TSS	Fetal Kidney	kidney
12	chr9:95895600-95896600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr9:95895600-95896800	Active TSS	Duodenum Smooth Muscle	Duodenum
14	chr9:95895600-95896800	Active TSS	Sigmoid Colon	Sigmoid Colon
15	chr9:95895600-95897000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
16	chr9:95895600-95897000	Active TSS	Primary T helper naive cells from peripheral blood	blood
17	chr9:95895600-95897000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr9:95895600-95897000	Active TSS	Colon Smooth Muscle	Colon
19	chr9:95895600-95897000	Active TSS	Ovary	ovary
20	chr9:95895600-95897000	Active TSS	A549	lung
21	chr9:95895600-95897200	Active TSS	Gastric	stomach
22	chr9:95895800-95896800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr9:95895800-95896800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr9:95895800-95896800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr9:95895800-95896800	Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr9:95895800-95896800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
27	chr9:95895800-95896800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr9:95895800-95896800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
29	chr9:95895800-95896800	Active TSS	Liver	Liver
30	chr9:95895800-95896800	Active TSS	Brain Anterior Caudate	brain
31	chr9:95895800-95896800	Active TSS	Brain Inferior Temporal Lobe	brain
32	chr9:95895800-95896800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
33	chr9:95895800-95896800	Active TSS	Esophagus	oesophagus
34	chr9:95895800-95896800	Active TSS	Fetal Intestine Small	intestine
35	chr9:95895800-95896800	Active TSS	Right Ventricle	heart
36	chr9:95895800-95896800	Active TSS	Small Intestine	intestine
37	chr9:95895800-95896800	Active TSS	Monocytes-CD14+_RO01746	blood
38	chr9:95895800-95897000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr9:95895800-95897000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr9:95895800-95897000	Active TSS	HUES6 Cell Line	embryonic stem cell
41	chr9:95895800-95897000	Active TSS	HUES64 Cell Line	embryonic stem cell
42	chr9:95895800-95897000	Active TSS	iPS-18 Cell Line	embryonic stem cell
43	chr9:95895800-95897000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr9:95895800-95897000	Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr9:95895800-95897000	Active TSS	Primary monocytes fromperipheralblood	blood
46	chr9:95895800-95897000	Active TSS	Primary T cells from cord blood	blood
47	chr9:95895800-95897000	Active TSS	Brain Angular Gyrus	brain
48	chr9:95895800-95897000	Active TSS	Left Ventricle	heart
49	chr9:95895800-95897000	Active TSS	Pancreas	Pancrea
50	chr9:95895800-95897000	Active TSS	Psoas Muscle	Psoas

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