Variant report

Variant	rs74330895
Chromosome Location	chr7:129252726-129252727
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:252)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:252 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr7:129252350-129252795	Hela-S3	cervix:	n/a	n/a
2	TBL1XR1	chr7:129252618-129252896	GM12878	blood:	n/a	n/a
3	MAX	chr7:129252198-129252972	NB4	blood:	n/a	chr7:129252330-129252340
4	CTCF	chr7:129252700-129252850	HCPEpiC	choroid plexus:	n/a	n/a
5	RAD21	chr7:129252513-129253032	HepG2	liver:	n/a	n/a
6	POLR2A	chr7:129252350-129253247	K562	blood:	n/a	n/a
7	CTCF	chr7:129252700-129252850	GM12869	blood:	n/a	n/a
8	TEAD4	chr7:129252333-129252996	K562	blood:	n/a	n/a
9	MAX	chr7:129252713-129252988	GM12878	blood:	n/a	n/a
10	CTCF	chr7:129252720-129252870	HCFaa	heart:	n/a	n/a
11	CTCF	chr7:129252720-129252870	SAEC	small airway:	n/a	n/a
12	CTCF	chr7:129252720-129252870	HPAF	blood vessel:	n/a	n/a
13	CTCF	chr7:129252701-129252841	GM20000	blood:	n/a	n/a
14	CTCF	chr7:129252720-129252870	HFF-Myc	foreskin:	n/a	n/a
15	RAD21	chr7:129252589-129252939	HepG2	liver:	n/a	n/a
16	CTCF	chr7:129252660-129252810	GM12872	blood:	n/a	n/a
17	MAZ	chr7:129252323-129252932	GM12878	blood:	n/a	chr7:129252330-129252340
18	CTCF	chr7:129252477-129252992	K562	blood:	n/a	n/a
19	CTCF	chr7:129252660-129252810	GM12864	blood:	n/a	n/a
20	CTCF	chr7:129252700-129252850	NB4	blood:	n/a	n/a
21	CTCF	chr7:129252680-129252830	HMEC	breast:	n/a	n/a
22	POLR2A	chr7:129250615-129252942	GM18505	blood:	n/a	n/a
23	CTCF	chr7:129252660-129252810	GM12865	blood:	n/a	n/a
24	CTCF	chr7:129252682-129252847	LNCaP	prostate:	n/a	n/a
25	RAD21	chr7:129252599-129252972	GM12878	blood:	n/a	n/a
26	SMC3	chr7:129252636-129252942	HepG2	liver:	n/a	n/a
27	CTCF	chr7:129252602-129252900	A549	lung:	n/a	n/a
28	CTCF	chr7:129252578-129252862	Gliobla	brain:	n/a	n/a
29	CTCF	chr7:129252700-129252850	WERI-Rb-1	eye:	n/a	n/a
30	GTF2F1	chr7:129252486-129253115	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr7:129252450-129253124	SK-N-SH	brain:	n/a	n/a
32	CTCF	chr7:129252720-129252870	AoAF	blood vessel:	n/a	n/a
33	RAD21	chr7:129249773-129253447	SK-N-SH	brain:	n/a	chr7:129251912-129251924
34	CHD1	chr7:129250339-129253090	IMR90	lung:	n/a	chr7:129252102-129252112
35	RAD21	chr7:129252608-129252991	SK-N-SH_RA	brain:	n/a	n/a
36	RAD21	chr7:129252613-129252954	Hela-S3	cervix:	n/a	n/a
37	CTCF	chr7:129252647-129252893	Spleen_OC	spleen:	n/a	n/a
38	HCFC1	chr7:129250633-129253406	Hela-S3	cervix:	n/a	n/a
39	MYC	chr7:129252713-129252889	K562	blood:	n/a	n/a
40	CTCF	chr7:129252620-129252989	HepG2	liver:	n/a	n/a
41	CTCF	chr7:129252660-129252810	GM12867	blood:	n/a	n/a
42	HEY1	chr7:129252349-129252792	K562	blood:	n/a	n/a
43	CTCF	chr7:129252660-129252810	HUVEC	blood vessel:	n/a	n/a
44	CTCF	chr7:129252583-129252980	SK-N-SH_RA	brain:	n/a	n/a
45	CTCF	chr7:129252658-129252909	Medullo	brain:	n/a	n/a
46	CTCF	chr7:129252720-129252870	HCPEpiC	choroid plexus:	n/a	n/a
47	MAX	chr7:129252284-129252727	MCF-7	breast:	n/a	chr7:129252330-129252340
48	WRNIP1	chr7:129252549-129253157	GM12878	blood:	n/a	n/a
49	CTCF	chr7:129252656-129252899	HUVEC	blood vessel:	n/a	n/a
50	RAD21	chr7:129252598-129252977	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:129040519..129043328-chr7:129251804..129254684,2	MCF-7	breast:
2	chr7:129252350..129253268-chr7:129275153..129276013,5	MCF-7	breast:
3	chr7:129141127..129144491-chr7:129250183..129252967,6	MCF-7	breast:
4	chr7:129139279..129144298-chr7:129248057..129253593,12	MCF-7	breast:
5	chr7:129072757..129075659-chr7:129250844..129252909,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000273329	TF binding region
ENSG00000240204	Chromatin interaction
ENSG00000128578	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

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	esv3354852	chr7:129250541-129253089	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	esv3394004	chr7:129250866-129253189	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 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	chr7:129250000-129253000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr7:129250000-129253400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr7:129250200-129252800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:129250200-129252800	Active TSS	iPS-18 Cell Line	embryonic stem cell
5	chr7:129250200-129252800	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr7:129250200-129252800	Active TSS	Fetal Kidney	kidney
7	chr7:129250200-129252800	Active TSS	HSMMtube	muscle
8	chr7:129250200-129253000	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr7:129250200-129253000	Active TSS	GM12878-XiMat	blood
10	chr7:129250200-129253400	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr7:129250400-129252800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr7:129250400-129253000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr7:129250400-129253000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr7:129250400-129253000	Active TSS	Fetal Intestine Small	intestine
15	chr7:129250400-129253000	Active TSS	HSMM	muscle
16	chr7:129250400-129253000	Active TSS	NHDF-Ad	bronchial
17	chr7:129250400-129253200	Active TSS	H9 Cell Line	embryonic stem cell
18	chr7:129250400-129253200	Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr7:129250400-129253200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr7:129250400-129253200	Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr7:129250400-129253200	Active TSS	NHLF	lung
22	chr7:129250400-129253400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr7:129250400-129253400	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr7:129250600-129252800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr7:129250600-129252800	Active TSS	Brain Inferior Temporal Lobe	brain
26	chr7:129250600-129253000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr7:129250600-129253000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr7:129250600-129253000	Active TSS	Aorta	Aorta
29	chr7:129250600-129253000	Active TSS	Ovary	ovary
30	chr7:129250600-129253000	Active TSS	Sigmoid Colon	Sigmoid Colon
31	chr7:129250600-129253000	Active TSS	A549	lung
32	chr7:129250600-129253200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
33	chr7:129250600-129253200	Active TSS	Muscle Satellite Cultured Cells	--
34	chr7:129250600-129253400	Active TSS	ES-I3 Cell Line	embryonic stem cell
35	chr7:129250800-129252800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr7:129250800-129252800	Active TSS	iPS-15b Cell Line	embryonic stem cell
37	chr7:129250800-129252800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr7:129250800-129252800	Active TSS	Brain Cingulate Gyrus	brain
39	chr7:129250800-129252800	Active TSS	Duodenum Smooth Muscle	Duodenum
40	chr7:129250800-129252800	Active TSS	Fetal Intestine Large	intestine
41	chr7:129250800-129252800	Active TSS	Gastric	stomach
42	chr7:129250800-129252800	Active TSS	Rectal Mucosa Donor 29	rectum
43	chr7:129250800-129252800	Active TSS	Small Intestine	intestine
44	chr7:129250800-129253000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr7:129250800-129253000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr7:129250800-129253000	Active TSS	Colon Smooth Muscle	Colon
47	chr7:129250800-129253000	Active TSS	Esophagus	oesophagus
48	chr7:129250800-129253200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr7:129250800-129253200	Active TSS	Psoas Muscle	Psoas
50	chr7:129250800-129253200	Active TSS	Right Ventricle	heart

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