Variant report

Variant	rs557354304
Chromosome Location	chr7:127672361-127672362
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	MAX	chr7:127671889-127673140	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr7:127670357-127673547	SK-N-SH	brain:	n/a	chr7:127670869-127670879 chr7:127671624-127671637
3	POLR2A	chr7:127671245-127672929	IMR90	lung:	n/a	n/a
4	RAD21	chr7:127671110-127673234	SK-N-SH	brain:	n/a	chr7:127672029-127672043 chr7:127673144-127673154 chr7:127673142-127673154
5	POLR2A	chr7:127670486-127673170	H1-neurons	neurons:	n/a	n/a
6	POLR2A	chr7:127670066-127673321	H1-hESC	embryonic stem cell:	n/a	n/a
7	TAF1	chr7:127672342-127672529	H1-hESC	embryonic stem cell:	n/a	n/a
8	MAZ	chr7:127670510-127673741	IMR90	lung:	n/a	chr7:127671236-127671246
9	MXI1	chr7:127671107-127673105	SK-N-SH	brain:	n/a	n/a
10	POLR2A	chr7:127671818-127672371	MCF-7	breast:	n/a	n/a
11	POLR2A	chr7:127671862-127672579	HUVEC	blood vessel:	n/a	n/a
12	POLR2A	chr7:127671119-127673088	H1-neurons	neurons:	n/a	n/a
13	MAX	chr7:127671870-127672716	SK-N-SH	brain:	n/a	n/a
14	MAX	chr7:127671886-127672393	SK-N-SH	brain:	n/a	n/a
15	REST	chr7:127670368-127673227	H1-neurons	neurons:	n/a	chr7:127671950-127671968 chr7:127672417-127672430 chr7:127671194-127671207 chr7:127671236-127671249 chr7:127672417-127672430 chr7:127672423-127672436
16	SMC3	chr7:127671103-127673365	SK-N-SH	brain:	n/a	chr7:127671262-127671269
17	NRF1	chr7:127671787-127672724	SK-N-SH	brain:	n/a	chr7:127672687-127672696 chr7:127672053-127672062
18	MAX	chr7:127671853-127673037	H1-hESC	embryonic stem cell:	n/a	n/a
19	EP300	chr7:127671174-127672535	SK-N-SH	brain:	n/a	chr7:127671397-127671413 chr7:127672044-127672060 chr7:127671938-127671954 chr7:127671302-127671318
20	E2F6	chr7:127671918-127673165	H1-hESC	embryonic stem cell:	n/a	chr7:127672223-127672232 chr7:127672923-127672930 chr7:127672420-127672430 chr7:127673055-127673065 chr7:127672024-127672034 chr7:127672919-127672931 chr7:127672923-127672930 chr7:127671980-127671987 chr7:127672922-127672931 chr7:127672922-127672930 chr7:127671929-127671938 chr7:127671980-127671987 chr7:127671980-127671987 chr7:127672923-127672930

No.	Distal block	Cell Line	Cell type
1	chr7:127672187..127674051-chr7:127688300..127690712,2	K562	blood:
2	chr7:127671143..127673584-chr7:127727975..127729974,2	MCF-7	breast:
3	chr7:127227216..127230211-chr7:127672180..127674348,2	MCF-7	breast:
4	chr7:127670290..127672426-chr7:127847694..127849550,2	MCF-7	breast:

Variant related genes	Relation type
LRRC4	TF binding region
ENSG00000004059	Chromatin interaction
ENSG00000197157	Chromatin interaction
ENSG00000207705	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1016143	chr7:127251359-127726762	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	esv3422434	chr7:127670741-127674089	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	esv3331798	chr7:127670766-127673564	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 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	chr7:127645000-127684000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr7:127666200-127672600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:127669400-127726600	Weak transcription	Hela-S3	cervix
4	chr7:127669600-127673200	Active TSS	Brain Cingulate Gyrus	brain
5	chr7:127669600-127718200	Weak transcription	A549	lung
6	chr7:127670000-127673000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr7:127670000-127673200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
8	chr7:127670200-127673000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr7:127670400-127673000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
10	chr7:127670400-127673000	Active TSS	Brain Substantia Nigra	brain
11	chr7:127670400-127673200	Active TSS	Fetal Brain Female	brain
12	chr7:127670400-127698800	Weak transcription	Dnd41	blood
13	chr7:127670600-127672600	Active TSS	Muscle Satellite Cultured Cells	--
14	chr7:127670600-127673000	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr7:127670600-127673200	Active TSS	Brain Anterior Caudate	brain
16	chr7:127670800-127672400	Active TSS	Psoas Muscle	Psoas
17	chr7:127670800-127672600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr7:127670800-127672600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr7:127670800-127672600	Active TSS	Right Atrium	heart
20	chr7:127670800-127672800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr7:127670800-127672800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
22	chr7:127670800-127672800	Active TSS	iPS-15b Cell Line	embryonic stem cell
23	chr7:127670800-127672800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr7:127670800-127672800	Active TSS	Primary T cells from cord blood	blood
25	chr7:127670800-127672800	Active TSS	Brain Germinal Matrix	brain
26	chr7:127670800-127672800	Active TSS	Brain Hippocampus Middle	brain
27	chr7:127670800-127672800	Active TSS	Brain Inferior Temporal Lobe	brain
28	chr7:127670800-127673000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
29	chr7:127670800-127673000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr7:127670800-127673000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr7:127670800-127673200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr7:127670800-127673200	Active TSS	Rectal Smooth Muscle	rectum
33	chr7:127670800-127673600	Active TSS	Brain Angular Gyrus	brain
34	chr7:127670800-127681400	Weak transcription	HepG2	liver
35	chr7:127671000-127672400	Active TSS	Fetal Brain Male	brain
36	chr7:127671000-127672400	Active TSS	Lung	lung
37	chr7:127671000-127672400	Active TSS	Spleen	Spleen
38	chr7:127671000-127672600	Bivalent/Poised TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr7:127671000-127672600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr7:127671000-127672600	Active TSS	Primary monocytes fromperipheralblood	blood
41	chr7:127671000-127672600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
42	chr7:127671000-127672600	Active TSS	Primary T helper cells PMA-I stimulated	--
43	chr7:127671000-127672600	Active TSS	Cortex derived primary cultured neurospheres	brain
44	chr7:127671000-127672600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr7:127671000-127672600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr7:127671000-127672600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr7:127671000-127672600	Active TSS	Adipose Nuclei	Adipose
48	chr7:127671000-127672600	Active TSS	Aorta	Aorta
49	chr7:127671000-127672600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
50	chr7:127671000-127672600	Active TSS	Fetal Intestine Small	intestine

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