Variant report

Variant	rs10249840
Chromosome Location	chr7:7607363-7607364
allele	A/C
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	MYC	chr7:7606202-7607652	K562	blood:	n/a	n/a
2	TBP	chr7:7607313-7609708	GM12878	blood:	n/a	n/a
3	EP300	chr7:7607250-7607894	GM12878	blood:	n/a	n/a
4	MXI1	chr7:7606284-7609622	GM12878	blood:	n/a	n/a
5	POLR2A	chr7:7606180-7609855	GM12892	blood:	n/a	n/a
6	TBL1XR1	chr7:7606411-7607424	GM12878	blood:	n/a	n/a
7	YY1	chr7:7606089-7607374	SK-N-SH	brain:	n/a	chr7:7606745-7606754 chr7:7606431-7606445 chr7:7606746-7606760 chr7:7606613-7606623 chr7:7606880-7606891 chr7:7606613-7606635 chr7:7606745-7606756 chr7:7606642-7606656 chr7:7606614-7606622 chr7:7606616-7606624 chr7:7606611-7606630 chr7:7606642-7606653
8	MAX	chr7:7606262-7607520	K562	blood:	n/a	n/a
9	JUND	chr7:7606228-7607381	K562	blood:	n/a	chr7:7606644-7606653
10	MAX	chr7:7606159-7607702	NB4	blood:	n/a	n/a
11	MYC	chr7:7606351-7607581	MCF10A-Er-Src	breast:	n/a	n/a
12	MAX	chr7:7606182-7607561	SK-N-SH	brain:	n/a	n/a
13	MAX	chr7:7606186-7607482	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr7:7607233-7608120	MCF10A-Er-Src	breast:	n/a	n/a
15	RUNX3	chr7:7607107-7607495	GM12878	blood:	n/a	n/a
16	KAP1	chr7:7606279-7607480	HEK293	kidney:	n/a	n/a
17	USF2	chr7:7606961-7607440	Hela-S3	cervix:	n/a	n/a
18	SIN3AK20	chr7:7605360-7607539	MCF-7	breast:	n/a	n/a
19	EP300	chr7:7607256-7607867	GM12878	blood:	n/a	n/a
20	POLR2A	chr7:7606041-7607565	Hela-S3	cervix:	n/a	n/a
21	E2F4	chr7:7607082-7607436	MCF10A-Er-Src	breast:	n/a	n/a
22	STAT5A	chr7:7606135-7607432	GM12878	blood:	n/a	chr7:7606485-7606497 chr7:7606647-7606659 chr7:7606480-7606492 chr7:7606975-7606987
23	MAX	chr7:7606250-7607538	SK-N-SH	brain:	n/a	n/a
24	RFX5	chr7:7607289-7607410	GM12878	blood:	n/a	n/a
25	SIN3A	chr7:7606242-7607423	GM12878	blood:	n/a	chr7:7606672-7606683 chr7:7606393-7606406
26	STAT3	chr7:7607309-7607413	MCF10A-Er-Src	breast:	n/a	n/a
27	MAX	chr7:7605537-7607508	MCF-7	breast:	n/a	n/a
28	TBL1XR1	chr7:7607038-7607611	K562	blood:	n/a	n/a
29	POLR2A	chr7:7606226-7609771	GM12892	blood:	n/a	n/a
30	POLR2A	chr7:7606186-7608743	MCF10A-Er-Src	breast:	n/a	n/a
31	CHD1	chr7:7606465-7607912	GM12878	blood:	n/a	n/a
32	WRNIP1	chr7:7606959-7607382	GM12878	blood:	n/a	n/a
33	POLR2A	chr7:7606063-7609760	GM19099	blood:	n/a	n/a
34	POLR2A	chr7:7606155-7607527	GM12878	blood:	n/a	n/a
35	REST	chr7:7606081-7607506	H1-neurons	neurons:	n/a	chr7:7606993-7607006
36	SMC3	chr7:7607337-7607423	GM12878	blood:	n/a	n/a
37	MXI1	chr7:7606331-7607488	Hela-S3	cervix:	n/a	n/a
38	CHD1	chr7:7606944-7607492	H1-hESC	embryonic stem cell:	n/a	n/a
39	IRF1	chr7:7606325-7607414	K562	blood:	n/a	chr7:7606433-7606447 chr7:7606487-7606501 chr7:7607321-7607335 chr7:7607324-7607336
40	MYC	chr7:7606232-7607454	K562	blood:	n/a	n/a
41	POLR2A	chr7:7606056-7610648	GM12891	blood:	n/a	n/a
42	POLR2A	chr7:7606157-7607491	GM12892	blood:	n/a	n/a
43	MAZ	chr7:7606093-7607483	IMR90	lung:	n/a	n/a
44	POLR2A	chr7:7606087-7610683	GM12892	blood:	n/a	n/a
45	MAX	chr7:7606120-7607627	A549	lung:	n/a	n/a
46	MXI1	chr7:7607019-7607433	K562	blood:	n/a	n/a
47	POLR2A	chr7:7606006-7610933	GM12878	blood:	n/a	n/a
48	MAFK	chr7:7607146-7607423	IMR90	lung:	n/a	n/a
49	POLR2A	chr7:7606174-7610054	GM18505	blood:	n/a	n/a
50	MYC	chr7:7607053-7607814	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:7605830..7608267-chr7:7679102..7681869,5	MCF-7	breast:
2	chr19:38863925..38865445-chr7:7605772..7607416,2	MCF-7	breast:
3	chr7:7220424..7222400-chr7:7606398..7608085,2	K562	blood:
4	chr7:7588099..7594648-chr7:7604621..7611487,9	MCF-7	breast:
5	chr7:7605040..7608458-chr7:7677009..7681661,8	K562	blood:
6	chr3:4508908..4509498-chr7:7606652..7607544,2	Hela-S3	cervix:
7	chr7:7588174..7592470-chr7:7605427..7608009,3	MCF-7	breast:
8	chr7:7221023..7222531-chr7:7605504..7608100,2	MCF-7	breast:
9	chr7:7605958..7609334-chr7:7621457..7626452,6	MCF-7	breast:
10	chr7:7220051..7223731-chr7:7605300..7608795,5	K562	blood:
11	chr7:7603046..7608569-chr7:7677123..7682101,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272894	TF binding region
ENSG00000106399	Chromatin interaction
ENSG00000099341	Chromatin interaction
ENSG00000272894	Chromatin interaction
ENSG00000164654	Chromatin interaction
ENSG00000106392	Chromatin interaction
ENSG00000219545	Chromatin interaction
ENSG00000144455	Chromatin interaction
ENSG00000272732	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs28421361	0.87[ASN][1000 genomes]
rs7791808	0.80[ASN][1000 genomes]
rs974320	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949293	chr7:6990891-7711883	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv1019498	chr7:7053923-7668373	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv538721	chr7:7053923-7668373	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv1026758	chr7:7187491-8075259	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS 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	84 gene(s)	inside rSNPs	diseases
5	nsv887470	chr7:7310023-7655094	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv887472	chr7:7405069-7680697	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	nsv606042	chr7:7427535-7876466	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
8	nsv887474	chr7:7519603-7679644	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
9	nsv887475	chr7:7519603-7679644	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
10	nsv887476	chr7:7519603-7680697	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
11	nsv887477	chr7:7531819-7810122	Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
12	nsv1032670	chr7:7535515-8017077	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
13	nsv8043	chr7:7589195-7862802	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 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	chr7:7604200-7607800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:7605200-7607400	Active TSS	Pancreas	Pancrea
3	chr7:7605400-7607400	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr7:7605600-7607400	Active TSS	Fetal Kidney	kidney
5	chr7:7605600-7607400	Active TSS	Rectal Smooth Muscle	rectum
6	chr7:7605800-7607400	Active TSS	Fetal Lung	lung
7	chr7:7605800-7607400	Active TSS	Lung	lung
8	chr7:7605800-7607400	Active TSS	Small Intestine	intestine
9	chr7:7605800-7607400	Active TSS	Stomach Smooth Muscle	stomach
10	chr7:7605800-7607600	Active TSS	Fetal Brain Female	brain
11	chr7:7605800-7607800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:7605800-7608000	Active TSS	NHDF-Ad	bronchial
13	chr7:7605800-7608600	Active TSS	NHLF	lung
14	chr7:7606000-7607400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr7:7606000-7607400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
16	chr7:7606000-7607400	Active TSS	Esophagus	oesophagus
17	chr7:7606000-7607600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
18	chr7:7606000-7607600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr7:7606000-7607600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr7:7606000-7607600	Active TSS	Brain Angular Gyrus	brain
21	chr7:7606000-7607600	Active TSS	Brain Germinal Matrix	brain
22	chr7:7606000-7607600	Active TSS	Fetal Muscle Trunk	muscle
23	chr7:7606000-7607800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr7:7606000-7607800	Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr7:7606000-7607800	Active TSS	Brain Cingulate Gyrus	brain
26	chr7:7606000-7608000	Active TSS	ES-I3 Cell Line	embryonic stem cell
27	chr7:7606000-7608000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr7:7606000-7608200	Active TSS	Psoas Muscle	Psoas
29	chr7:7606000-7609200	Active TSS	Right Atrium	heart
30	chr7:7606200-7607400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr7:7606200-7607400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr7:7606200-7607400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr7:7606200-7607400	Active TSS	Primary T killer memory cells from peripheral blood	blood
34	chr7:7606200-7607400	Active TSS	Brain Anterior Caudate	brain
35	chr7:7606200-7607400	Active TSS	Fetal Intestine Large	intestine
36	chr7:7606200-7607400	Active TSS	Left Ventricle	heart
37	chr7:7606200-7607400	Active TSS	Rectal Mucosa Donor 31	rectum
38	chr7:7606200-7607400	Active TSS	Skeletal Muscle Male	skeletal muscle
39	chr7:7606200-7607400	Active TSS	Stomach Mucosa	stomach
40	chr7:7606200-7607400	Active TSS	HUVEC	blood vessel
41	chr7:7606200-7607400	Active TSS	K562	blood
42	chr7:7606200-7607600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr7:7606200-7607600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr7:7606200-7607600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr7:7606200-7607600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr7:7606200-7607600	Active TSS	Colonic Mucosa	Colon
47	chr7:7606200-7607600	Active TSS	Placenta	Placenta
48	chr7:7606200-7607600	Active TSS	Ovary	ovary
49	chr7:7606200-7607600	Active TSS	Rectal Mucosa Donor 29	rectum
50	chr7:7606200-7607600	Active TSS	Hela-S3	cervix

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