Variant report

Variant	rs559840052
Chromosome Location	chr7:100144744-100144745
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	IKZF1	chr7:100142527-100145863	GM12878	blood:	n/a	chr7:100143306-100143314 chr7:100144832-100144840
2	RUNX3	chr7:100143885-100144932	GM12878	blood:	n/a	n/a
3	POLR2A	chr7:100144015-100144770	GM12892	blood:	n/a	n/a
4	TBL1XR1	chr7:100143976-100144988	GM12878	blood:	n/a	n/a
5	MAZ	chr7:100144205-100144991	GM12878	blood:	n/a	n/a
6	IRF1	chr7:100144110-100144787	K562	blood:	n/a	chr7:100144540-100144553 chr7:100144538-100144552 chr7:100144536-100144557 chr7:100144542-100144556 chr7:100144541-100144553 chr7:100144401-100144418 chr7:100144398-100144412 chr7:100144539-100144553 chr7:100144541-100144553 chr7:100144402-100144413 chr7:100144540-100144551 chr7:100144401-100144413 chr7:100144536-100144553 chr7:100144541-100144552
7	POLR2A	chr7:100142761-100144767	GM18505	blood:	n/a	n/a
8	RUNX3	chr7:100142855-100144964	GM12878	blood:	n/a	chr7:100142971-100142988
9	EGR1	chr7:100144565-100144973	K562	blood:	n/a	chr7:100144789-100144802 chr7:100144768-100144782 chr7:100144770-100144785 chr7:100144786-100144800 chr7:100144772-100144783 chr7:100144766-100144788 chr7:100144771-100144784
10	TBP	chr7:100144152-100144793	GM12878	blood:	n/a	n/a
11	POLR2A	chr7:100144711-100144887	HUVEC	blood vessel:	n/a	n/a
12	RELA	chr7:100141657-100145111	GM18505	blood:	n/a	n/a
13	MTA3	chr7:100140880-100145936	GM12878	blood:	n/a	n/a
14	MYBL2	chr7:100143000-100144817	HepG2	liver:	n/a	n/a
15	MYC	chr7:100144640-100144766	K562	blood:	n/a	n/a
16	ELK1	chr7:100144337-100144887	GM12878	blood:	n/a	n/a
17	EP300	chr7:100144347-100144899	K562	blood:	n/a	chr7:100144773-100144786
18	NR3C1	chr7:100144685-100144861	A549	lung:	n/a	n/a
19	TBL1XR1	chr7:100143873-100145019	K562	blood:	n/a	n/a
20	POLR2A	chr7:100143837-100144784	HUVEC	blood vessel:	n/a	n/a
21	BATF	chr7:100144505-100144849	GM12878	blood:	n/a	chr7:100144692-100144701 chr7:100144712-100144723
22	JUN	chr7:100141383-100146123	K562	blood:	n/a	chr7:100144782-100144791 chr7:100143542-100143553 chr7:100143380-100143390 chr7:100143785-100143794 chr7:100143539-100143551 chr7:100143380-100143390 chr7:100143541-100143549 chr7:100143780-100143789 chr7:100143784-100143793 chr7:100141512-100141521 chr7:100142309-100142318 chr7:100143789-100143798 chr7:100142362-100142371 chr7:100143781-100143790 chr7:100143524-100143536
23	RCOR1	chr7:100144696-100144831	K562	blood:	n/a	n/a
24	ZBTB7A	chr7:100144663-100144882	K562	blood:	n/a	n/a
25	IRF1	chr7:100144081-100144892	K562	blood:	n/a	chr7:100144540-100144553 chr7:100144538-100144552 chr7:100144536-100144557 chr7:100144542-100144556 chr7:100144541-100144553 chr7:100144401-100144418 chr7:100144398-100144412 chr7:100144539-100144553 chr7:100144541-100144553 chr7:100144402-100144413 chr7:100144540-100144551 chr7:100144401-100144413 chr7:100144536-100144553 chr7:100144541-100144552
26	FOXM1	chr7:100144005-100144890	GM12878	blood:	n/a	n/a
27	JUND	chr7:100144595-100144882	K562	blood:	n/a	chr7:100144782-100144791
28	HCFC1	chr7:100144707-100144754	K562	blood:	n/a	n/a
29	HEY1	chr7:100141678-100145100	HepG2	liver:	n/a	chr7:100143781-100143796
30	PML	chr7:100142614-100145212	GM12878	blood:	n/a	n/a
31	POLR2A	chr7:100140894-100145981	HepG2	liver:	n/a	n/a
32	POLR2A	chr7:100143802-100144981	HepG2	liver:	n/a	n/a
33	POLR2A	chr7:100141039-100144915	GM12878	blood:	n/a	n/a
34	MAZ	chr7:100144681-100144947	K562	blood:	n/a	n/a
35	EGR1	chr7:100144544-100144911	K562	blood:	n/a	chr7:100144789-100144802 chr7:100144768-100144782 chr7:100144770-100144785 chr7:100144786-100144800 chr7:100144772-100144783 chr7:100144766-100144788 chr7:100144771-100144784
36	POLR2A	chr7:100143975-100144766	GM12878	blood:	n/a	n/a
37	EGR1	chr7:100144701-100144870	GM12878	blood:	n/a	chr7:100144789-100144802 chr7:100144768-100144782 chr7:100144770-100144785 chr7:100144786-100144800 chr7:100144772-100144783 chr7:100144766-100144788 chr7:100144771-100144784
38	EGR1	chr7:100144658-100144857	GM12878	blood:	n/a	chr7:100144789-100144802 chr7:100144768-100144782 chr7:100144770-100144785 chr7:100144786-100144800 chr7:100144772-100144783 chr7:100144766-100144788 chr7:100144771-100144784
39	NFIC	chr7:100142609-100145059	GM12878	blood:	n/a	n/a
40	YY1	chr7:100144656-100144887	K562	blood:	n/a	n/a
41	ARID3A	chr7:100144203-100144803	K562	blood:	n/a	n/a
42	CHD2	chr7:100143963-100144900	GM12878	blood:	n/a	n/a
43	POLR2A	chr7:100140981-100144955	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:100143139..100144960-chr7:100210042..100212066,2	K562	blood:
2	chr7:100025881..100027667-chr7:100143251..100146330,4	MCF-7	breast:
3	chr7:100142201..100145553-chr7:100159344..100161288,4	K562	blood:
4	chr7:100140983..100146932-chr7:100182357..100186194,10	MCF-7	breast:
5	chr7:100144116..100146517-chr7:100289943..100291876,2	K562	blood:
6	chr7:100142841..100146326-chr7:100160207..100163065,3	MCF-7	breast:
7	chr7:100142950..100145314-chr7:100161125..100163240,2	K562	blood:
8	chr7:100143245..100145713-chr7:100199778..100203079,3	MCF-7	breast:
9	chr7:100074335..100078343-chr7:100142686..100146158,4	K562	blood:
10	chr7:100143577..100145211-chr7:100180031..100182996,2	K562	blood:
11	chr7:100142903..100145091-chr7:100168075..100170895,2	MCF-7	breast:
12	chr7:100136291..100139067-chr7:100140246..100145508,4	MCF-7	breast:
13	chr7:100024941..100027622-chr7:100141781..100145026,4	K562	blood:
14	chr7:100143448..100145792-chr7:100271668..100273446,2	MCF-7	breast:
15	chr7:100025634..100027530-chr7:100143526..100145489,2	K562	blood:
16	chr7:100140502..100142594-chr7:100143525..100145435,2	K562	blood:
17	chr7:100067039..100069939-chr7:100143624..100146249,2	K562	blood:
18	chr7:100080527..100083060-chr7:100141951..100145813,4	MCF-7	breast:
19	chr7:100063079..100063989-chr7:100144215..100144855,2	K562	blood:
20	chr7:100065337..100067606-chr7:100143752..100145766,2	MCF-7	breast:
21	chr7:100032414..100033926-chr7:100144081..100145594,2	K562	blood:
22	chr7:100144343..100147077-chr7:100156607..100158371,2	MCF-7	breast:
23	chr7:100030016..100034371-chr7:100142404..100146654,4	K562	blood:

Variant related genes	Relation type
AGFG2	TF binding region
ENSG00000224729	Chromatin interaction
ENSG00000166925	Chromatin interaction
ENSG00000106330	Chromatin interaction
ENSG00000106351	Chromatin interaction
ENSG00000146834	Chromatin interaction
ENSG00000106336	Chromatin interaction
ENSG00000166924	Chromatin interaction
ENSG00000160813	Chromatin interaction
ENSG00000266372	Chromatin interaction
ENSG00000241357	Chromatin interaction
ENSG00000078487	Chromatin interaction
ENSG00000172354	Chromatin interaction
ENSG00000240211	Chromatin interaction
ENSG00000106333	Chromatin interaction
ENSG00000077454	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3350965	chr7:99747460-100146105	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	304 gene(s)	inside rSNPs	diseases
2	esv1829095	chr7:99814675-100494084	Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	393 gene(s)	inside rSNPs	diseases
3	nsv888776	chr7:100014711-100198386	Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	297 gene(s)	inside rSNPs	diseases
4	nsv888777	chr7:100014711-100221867	Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	304 gene(s)	inside rSNPs	diseases
5	nsv888778	chr7:100014711-100236593	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	310 gene(s)	inside rSNPs	diseases
6	nsv888779	chr7:100014711-100313420	Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	321 gene(s)	inside rSNPs	diseases
7	nsv888780	chr7:100032665-100198386	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
8	nsv888782	chr7:100064719-100236593	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
9	nsv888785	chr7:100141861-100313420	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
10	nsv971157	chr7:100143688-100148402	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100137800-100146600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr7:100138000-100145400	Weak transcription	Primary B cells from cord blood	blood
3	chr7:100138000-100145400	Weak transcription	Fetal Brain Male	brain
4	chr7:100138000-100145400	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr7:100138200-100146400	Weak transcription	Fetal Brain Female	brain
6	chr7:100138400-100146400	Weak transcription	Dnd41	blood
7	chr7:100140000-100145800	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr7:100140000-100148000	Enhancers	Primary B cells from peripheral blood	blood
9	chr7:100140400-100145400	Enhancers	H1 Cell Line	embryonic stem cell
10	chr7:100140400-100146200	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr7:100140600-100144800	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr7:100140600-100145400	Weak transcription	Gastric	stomach
13	chr7:100140800-100145000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
14	chr7:100141000-100145800	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr7:100141000-100145800	Flanking Active TSS	GM12878-XiMat	blood
16	chr7:100141000-100146000	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr7:100141000-100146600	Enhancers	Brain Cingulate Gyrus	brain
18	chr7:100141200-100146200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
19	chr7:100141200-100146600	Enhancers	Small Intestine	intestine
20	chr7:100141600-100145400	Flanking Active TSS	A549	lung
21	chr7:100141600-100146200	Enhancers	Sigmoid Colon	Sigmoid Colon
22	chr7:100141600-100146400	Enhancers	Duodenum Smooth Muscle	Duodenum
23	chr7:100141600-100146600	Enhancers	Fetal Heart	heart
24	chr7:100141800-100145400	Enhancers	Psoas Muscle	Psoas
25	chr7:100141800-100145600	Flanking Active TSS	Liver	Liver
26	chr7:100141800-100145600	Enhancers	Fetal Intestine Small	intestine
27	chr7:100141800-100145800	Enhancers	Fetal Intestine Large	intestine
28	chr7:100141800-100146200	Enhancers	Fetal Muscle Leg	muscle
29	chr7:100141800-100146400	Enhancers	Left Ventricle	heart
30	chr7:100141800-100146600	Enhancers	Adipose Nuclei	Adipose
31	chr7:100141800-100146600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr7:100141800-100147000	Enhancers	Right Atrium	heart
33	chr7:100141800-100147000	Enhancers	Stomach Mucosa	stomach
34	chr7:100142000-100145400	Enhancers	Fetal Thymus	thymus
35	chr7:100142000-100145800	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr7:100142000-100146600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr7:100142000-100147000	Enhancers	Placenta	Placenta
38	chr7:100142400-100144800	Enhancers	Fetal Lung	lung
39	chr7:100142400-100146200	Enhancers	Fetal Stomach	stomach
40	chr7:100142400-100146200	Enhancers	NHDF-Ad	bronchial
41	chr7:100142400-100146400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr7:100142400-100146400	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr7:100142400-100146600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr7:100142600-100144800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
45	chr7:100142600-100145400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
46	chr7:100142600-100145600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr7:100142600-100145600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr7:100142600-100145800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr7:100142600-100145800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
50	chr7:100142600-100148600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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