Variant report

Variant	rs577312226
Chromosome Location	chr7:100145106-100145107
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	RELA	chr7:100141657-100145111	GM18505	blood:	n/a	n/a
3	MTA3	chr7:100140880-100145936	GM12878	blood:	n/a	n/a
4	POLR2A	chr7:100145085-100146623	HepG2	liver:	n/a	n/a
5	TEAD4	chr7:100145105-100145968	K562	blood:	n/a	n/a
6	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
7	POLR2A	chr7:100144997-100145990	HUVEC	blood vessel:	n/a	n/a
8	PML	chr7:100142614-100145212	GM12878	blood:	n/a	n/a
9	POLR2A	chr7:100140894-100145981	HepG2	liver:	n/a	n/a
10	POLR2A	chr7:100145086-100145702	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:100025881..100027667-chr7:100143251..100146330,4	MCF-7	breast:
2	chr7:100142201..100145553-chr7:100159344..100161288,4	K562	blood:
3	chr7:100140983..100146932-chr7:100182357..100186194,10	MCF-7	breast:
4	chr7:100144116..100146517-chr7:100289943..100291876,2	K562	blood:
5	chr7:100142841..100146326-chr7:100160207..100163065,3	MCF-7	breast:
6	chr7:100142950..100145314-chr7:100161125..100163240,2	K562	blood:
7	chr7:100143245..100145713-chr7:100199778..100203079,3	MCF-7	breast:
8	chr7:100144895..100147255-chr7:100148488..100151702,4	K562	blood:
9	chr7:100074335..100078343-chr7:100142686..100146158,4	K562	blood:
10	chr7:100143577..100145211-chr7:100180031..100182996,2	K562	blood:
11	chr7:100136291..100139067-chr7:100140246..100145508,4	MCF-7	breast:
12	chr7:100143448..100145792-chr7:100271668..100273446,2	MCF-7	breast:
13	chr7:100025634..100027530-chr7:100143526..100145489,2	K562	blood:
14	chr7:100140502..100142594-chr7:100143525..100145435,2	K562	blood:
15	chr7:100067039..100069939-chr7:100143624..100146249,2	K562	blood:
16	chr7:100080527..100083060-chr7:100141951..100145813,4	MCF-7	breast:
17	chr7:100065337..100067606-chr7:100143752..100145766,2	MCF-7	breast:
18	chr7:100032414..100033926-chr7:100144081..100145594,2	K562	blood:
19	chr7:100144343..100147077-chr7:100156607..100158371,2	MCF-7	breast:
20	chr7:100030016..100034371-chr7:100142404..100146654,4	K562	blood:

Variant related genes	Relation type
AGFG2	TF binding region
ENSG00000241357	Chromatin interaction
ENSG00000172354	Chromatin interaction
ENSG00000106351	Chromatin interaction
ENSG00000160813	Chromatin interaction
ENSG00000106333	Chromatin interaction
ENSG00000166924	Chromatin interaction
ENSG00000106336	Chromatin interaction
ENSG00000224729	Chromatin interaction
ENSG00000166925	Chromatin interaction
ENSG00000240211	Chromatin interaction
ENSG00000266372	Chromatin interaction
ENSG00000078487	Chromatin interaction
ENSG00000146834	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	chr7:100140600-100145400	Weak transcription	Gastric	stomach
12	chr7:100141000-100145800	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr7:100141000-100145800	Flanking Active TSS	GM12878-XiMat	blood
14	chr7:100141000-100146000	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr7:100141000-100146600	Enhancers	Brain Cingulate Gyrus	brain
16	chr7:100141200-100146200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
17	chr7:100141200-100146600	Enhancers	Small Intestine	intestine
18	chr7:100141600-100145400	Flanking Active TSS	A549	lung
19	chr7:100141600-100146200	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr7:100141600-100146400	Enhancers	Duodenum Smooth Muscle	Duodenum
21	chr7:100141600-100146600	Enhancers	Fetal Heart	heart
22	chr7:100141800-100145400	Enhancers	Psoas Muscle	Psoas
23	chr7:100141800-100145600	Flanking Active TSS	Liver	Liver
24	chr7:100141800-100145600	Enhancers	Fetal Intestine Small	intestine
25	chr7:100141800-100145800	Enhancers	Fetal Intestine Large	intestine
26	chr7:100141800-100146200	Enhancers	Fetal Muscle Leg	muscle
27	chr7:100141800-100146400	Enhancers	Left Ventricle	heart
28	chr7:100141800-100146600	Enhancers	Adipose Nuclei	Adipose
29	chr7:100141800-100146600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr7:100141800-100147000	Enhancers	Right Atrium	heart
31	chr7:100141800-100147000	Enhancers	Stomach Mucosa	stomach
32	chr7:100142000-100145400	Enhancers	Fetal Thymus	thymus
33	chr7:100142000-100145800	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr7:100142000-100146600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr7:100142000-100147000	Enhancers	Placenta	Placenta
36	chr7:100142400-100146200	Enhancers	Fetal Stomach	stomach
37	chr7:100142400-100146200	Enhancers	NHDF-Ad	bronchial
38	chr7:100142400-100146400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr7:100142400-100146400	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr7:100142400-100146600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr7:100142600-100145400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
42	chr7:100142600-100145600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr7:100142600-100145600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr7:100142600-100145800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr7:100142600-100145800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
46	chr7:100142600-100148600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr7:100142800-100145200	Enhancers	HSMM	muscle
48	chr7:100142800-100145800	Enhancers	Brain Substantia Nigra	brain
49	chr7:100142800-100146600	Enhancers	Right Ventricle	heart
50	chr7:100142800-100146800	Enhancers	Primary hematopoietic stem cells short term culture	blood

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