Variant report

Variant	rs17159708
Chromosome Location	chr7:112125182-112125183
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	EGR1	chr7:112124909-112125197	K562	blood:	n/a	chr7:112125072-112125083
2	STAT3	chr7:112124821-112125205	MCF10A-Er-Src	breast:	n/a	n/a
3	REST	chr7:112124729-112125200	SK-N-SH	brain:	n/a	n/a
4	RCOR1	chr7:112124649-112125319	Hela-S3	cervix:	n/a	n/a
5	RCOR1	chr7:112124813-112125213	K562	blood:	n/a	n/a
6	STAT3	chr7:112124821-112125220	MCF10A-Er-Src	breast:	n/a	n/a
7	EGR1	chr7:112124679-112125452	HCT-116	colon:	n/a	chr7:112125072-112125083 chr7:112124782-112124806
8	GATA3	chr7:112124615-112125246	SK-N-SH	brain:	n/a	n/a
9	FOSL2	chr7:112124551-112125251	SK-N-SH	brain:	n/a	chr7:112124871-112124882
10	FOS	chr7:112124710-112125200	MCF10A-Er-Src	breast:	n/a	chr7:112124870-112124881
11	NR3C1	chr7:112124810-112125237	A549	lung:	n/a	n/a
12	SP1	chr7:112124569-112125373	HCT-116	colon:	n/a	chr7:112125089-112125101 chr7:112125259-112125273 chr7:112125086-112125100 chr7:112125090-112125099 chr7:112125076-112125086 chr7:112125089-112125101 chr7:112125076-112125086
13	JUND	chr7:112124426-112125267	SK-N-SH	brain:	n/a	chr7:112124870-112124881
14	FOSL1	chr7:112124577-112125270	HCT-116	colon:	n/a	n/a
15	FOSL1	chr7:112124583-112125235	HCT-116	colon:	n/a	n/a
16	GTF2F1	chr7:112124668-112125215	Hela-S3	cervix:	n/a	n/a
17	MYC	chr7:112124771-112125232	MCF10A-Er-Src	breast:	n/a	n/a
18	STAT3	chr7:112124784-112125233	MCF10A-Er-Src	breast:	n/a	n/a
19	JUND	chr7:112124541-112125336	HCT-116	colon:	n/a	chr7:112124870-112124881
20	JUND	chr7:112124074-112125397	SK-N-SH	brain:	n/a	chr7:112124870-112124881
21	STAT3	chr7:112124762-112125199	Hela-S3	cervix:	n/a	n/a
22	USF1	chr7:112124684-112125202	SK-N-SH	brain:	n/a	n/a
23	EGR1	chr7:112124853-112125290	K562	blood:	n/a	chr7:112125072-112125083
24	FOS	chr7:112124680-112125199	Hela-S3	cervix:	n/a	chr7:112124870-112124881
25	STAT3	chr7:112124838-112125237	MCF10A-Er-Src	breast:	n/a	n/a
26	TCF12	chr7:112124533-112125432	SK-N-SH	brain:	n/a	n/a
27	PBX3	chr7:112124663-112125182	SK-N-SH	brain:	n/a	n/a
28	SP1	chr7:112124553-112125419	HCT-116	colon:	n/a	chr7:112125089-112125101 chr7:112125259-112125273 chr7:112125086-112125100 chr7:112125090-112125099 chr7:112125076-112125086 chr7:112125089-112125101 chr7:112125076-112125086
29	MEF2A	chr7:112124756-112125263	K562	blood:	n/a	chr7:112125048-112125057 chr7:112125041-112125062 chr7:112125048-112125059 chr7:112125041-112125062 chr7:112125045-112125060 chr7:112125046-112125060 chr7:112125047-112125058
30	TCF12	chr7:112124606-112125337	A549	lung:	n/a	n/a
31	EGR1	chr7:112124715-112125366	HCT-116	colon:	n/a	chr7:112125072-112125083 chr7:112124782-112124806
32	STAT3	chr7:112124811-112125243	MCF10A-Er-Src	breast:	n/a	n/a
33	JUN	chr7:112124670-112125192	Hela-S3	cervix:	n/a	n/a
34	REST	chr7:112124647-112125219	PFSK-1	brain:	n/a	n/a
35	CEBPB	chr7:112124961-112125475	A549	lung:	n/a	chr7:112125426-112125435 chr7:112125424-112125435 chr7:112125426-112125435 chr7:112125424-112125437 chr7:112125426-112125435 chr7:112125426-112125435 chr7:112125424-112125435
36	JUND	chr7:112124653-112125333	HCT-116	colon:	n/a	chr7:112124870-112124881
37	TCF7L2	chr7:112124767-112125283	Hela-S3	cervix:	n/a	n/a
38	MYC	chr7:112124849-112125226	MCF10A-Er-Src	breast:	n/a	n/a
39	RFX5	chr7:112124616-112125250	Hela-S3	cervix:	n/a	n/a
40	MEF2A	chr7:112124579-112125378	SK-N-SH	brain:	n/a	chr7:112125048-112125057 chr7:112125041-112125062 chr7:112125048-112125059 chr7:112125041-112125062 chr7:112125045-112125060 chr7:112125046-112125060 chr7:112125047-112125058
41	POLR2A	chr7:112124645-112125184	SK-N-SH	brain:	n/a	n/a
42	CEBPB	chr7:112124771-112125556	IMR90	lung:	n/a	chr7:112125426-112125435 chr7:112125424-112125435 chr7:112125426-112125435 chr7:112125424-112125437 chr7:112125426-112125435 chr7:112125426-112125435 chr7:112125424-112125435
43	POLR2A	chr7:112124719-112125198	HUVEC	blood vessel:	n/a	n/a
44	PBX3	chr7:112124608-112125206	SK-N-SH	brain:	n/a	n/a
45	FOSL2	chr7:112124575-112125292	A549	lung:	n/a	chr7:112124871-112124882
46	CEBPB	chr7:112124689-112125507	Hela-S3	cervix:	n/a	chr7:112125426-112125435 chr7:112125424-112125435 chr7:112125426-112125435 chr7:112125424-112125437 chr7:112125426-112125435 chr7:112125426-112125435 chr7:112125424-112125435
47	CHD2	chr7:112124835-112125218	Hela-S3	cervix:	n/a	n/a
48	MEF2A	chr7:112124912-112125238	K562	blood:	n/a	chr7:112125048-112125057 chr7:112125041-112125062 chr7:112125048-112125059 chr7:112125041-112125062 chr7:112125045-112125060 chr7:112125046-112125060 chr7:112125047-112125058
49	FOS	chr7:112124709-112125207	MCF10A-Er-Src	breast:	n/a	chr7:112124870-112124881
50	TCF12	chr7:112124494-112125361	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:112088410..112092033-chr7:112123451..112127009,4	MCF-7	breast:
2	chr7:112121071..112126030-chr7:112126598..112131851,6	K562	blood:
3	chr7:112088943..112098465-chr7:112111106..112127214,31	K562	blood:
4	chr7:112120506..112122377-chr7:112122627..112125430,3	K562	blood:
5	chr7:112107706..112111230-chr7:112125046..112128552,3	MCF-7	breast:
6	chr7:112122239..112125298-chr7:112125883..112129241,4	MCF-7	breast:
7	chr7:112122370..112125277-chr7:112129500..112134032,5	K562	blood:
8	chr14:39901118..39901886-chr7:112124738..112125425,2	Hela-S3	cervix:
9	chr7:5565957..5566569-chr7:112124589..112125447,2	Hela-S3	cervix:

Variant related genes	Relation type
LSMEM1	TF binding region
ENSG00000165355	Chromatin interaction
ENSG00000006652	Chromatin interaction
ENSG00000181016	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11971175	1.00[EUR][1000 genomes]
rs11971502	1.00[EUR][1000 genomes]
rs11971939	1.00[EUR][1000 genomes]
rs11973377	1.00[EUR][1000 genomes]
rs11973971	1.00[EUR][1000 genomes]
rs11974313	1.00[EUR][1000 genomes]
rs11974703	1.00[EUR][1000 genomes]
rs11975894	1.00[EUR][1000 genomes]
rs11981674	1.00[EUR][1000 genomes]
rs11983419	1.00[EUR][1000 genomes]
rs16873392	1.00[EUR][1000 genomes]
rs28615445	1.00[EUR][1000 genomes]
rs3109110	1.00[EUR][1000 genomes]
rs3109111	1.00[EUR][1000 genomes]
rs6466411	1.00[EUR][1000 genomes]
rs6969144	1.00[EUR][1000 genomes]
rs6971255	1.00[EUR][1000 genomes]
rs6974737	1.00[EUR][1000 genomes]
rs73424473	1.00[EUR][1000 genomes]
rs7779086	1.00[EUR][1000 genomes]
rs7811092	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
2	nsv1030033	chr7:112092709-112140430	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112100600-112135000	Weak transcription	Esophagus	oesophagus
2	chr7:112111200-112127200	Weak transcription	Fetal Brain Male	brain
3	chr7:112112600-112129000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr7:112113400-112127600	Weak transcription	Spleen	Spleen
5	chr7:112114400-112132000	Weak transcription	HepG2	liver
6	chr7:112116800-112132200	Weak transcription	Fetal Intestine Small	intestine
7	chr7:112117200-112125200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr7:112117200-112127200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr7:112117200-112128800	Weak transcription	Dnd41	blood
10	chr7:112117400-112130800	Weak transcription	Thymus	Thymus
11	chr7:112117600-112125800	Weak transcription	Fetal Stomach	stomach
12	chr7:112117600-112131600	Weak transcription	Fetal Intestine Large	intestine
13	chr7:112118800-112141600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr7:112120600-112126200	Enhancers	NHDF-Ad	bronchial
15	chr7:112120800-112126000	Weak transcription	Primary B cells from cord blood	blood
16	chr7:112121000-112126000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr7:112121000-112126000	Enhancers	Fetal Heart	heart
18	chr7:112121000-112136200	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr7:112121200-112132000	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr7:112121400-112125200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:112121600-112129600	Weak transcription	Liver	Liver
22	chr7:112122400-112131400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr7:112122600-112125800	Weak transcription	GM12878-XiMat	blood
24	chr7:112122600-112127000	Weak transcription	Brain Cingulate Gyrus	brain
25	chr7:112122600-112132400	Weak transcription	Gastric	stomach
26	chr7:112122800-112125200	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr7:112123200-112135400	Weak transcription	Fetal Lung	lung
28	chr7:112123400-112125200	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr7:112123600-112126000	Enhancers	Fetal Muscle Leg	muscle
30	chr7:112123600-112130600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr7:112123800-112125400	Enhancers	Rectal Smooth Muscle	rectum
32	chr7:112123800-112125600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr7:112123800-112125800	Enhancers	Colon Smooth Muscle	Colon
34	chr7:112124000-112129600	Weak transcription	Aorta	Aorta
35	chr7:112124200-112125200	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr7:112124200-112125600	Enhancers	NH-A	brain
37	chr7:112124200-112127600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr7:112124200-112127800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr7:112124400-112126000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr7:112124600-112125200	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr7:112124600-112125200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
42	chr7:112124600-112125200	Enhancers	NHEK	skin
43	chr7:112124600-112125400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr7:112124600-112125400	Enhancers	HMEC	breast
45	chr7:112124600-112125400	Enhancers	K562	blood
46	chr7:112124600-112125600	Enhancers	Placenta Amnion	Placenta Amnion
47	chr7:112124600-112126000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
48	chr7:112124600-112126000	Enhancers	NHLF	lung
49	chr7:112124800-112125200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
50	chr7:112124800-112125200	Enhancers	iPS-15b Cell Line	embryonic stem cell

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