Variant report

Variant	rs542216239
Chromosome Location	chr7:128171067-128171068
allele	A/G
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	EGR1	chr7:128170824-128171315	K562	blood:	n/a	chr7:128171026-128171039 chr7:128171246-128171256
2	POLR2A	chr7:128171027-128171687	H1-neurons	neurons:	n/a	n/a
3	TRIM28	chr7:128171009-128171758	K562	blood:	n/a	n/a
4	POLR2A	chr7:128170655-128172566	MCF10A-Er-Src	breast:	n/a	n/a
5	MAZ	chr7:128170303-128172201	IMR90	lung:	n/a	chr7:128171989-128171999 chr7:128171676-128171686 chr7:128171386-128171393
6	RCOR1	chr7:128171056-128171442	HepG2	liver:	n/a	n/a
7	POLR2A	chr7:128171006-128171307	H1-hESC	embryonic stem cell:	n/a	n/a
8	MAZ	chr7:128170625-128171721	Hela-S3	cervix:	n/a	chr7:128171676-128171686 chr7:128171386-128171393
9	POLR2A	chr7:128170812-128172542	PANC-1	pancreas:	n/a	n/a
10	CHD1	chr7:128170782-128171972	IMR90	lung:	n/a	chr7:128171373-128171382
11	RUNX3	chr7:128171010-128171302	GM12878	blood:	n/a	n/a
12	TAF1	chr7:128170942-128172170	GM12878	blood:	n/a	n/a
13	POLR2A	chr7:128170546-128171287	H1-hESC	embryonic stem cell:	n/a	n/a
14	YY1	chr7:128170837-128171295	HepG2	liver:	n/a	chr7:128171049-128171058 chr7:128171260-128171271 chr7:128171221-128171235 chr7:128171191-128171205
15	RCOR1	chr7:128171063-128171329	Hela-S3	cervix:	n/a	n/a
16	RXRA	chr7:128170944-128171261	HepG2	liver:	n/a	n/a
17	POLR2A	chr7:128170890-128171598	K562	blood:	n/a	n/a
18	MAX	chr7:128171047-128171291	HepG2	liver:	n/a	n/a
19	JUND	chr7:128171062-128171802	A549	lung:	n/a	chr7:128171678-128171687
20	NR2F2	chr7:128170841-128171720	K562	blood:	n/a	n/a
21	PML	chr7:128170931-128171706	K562	blood:	n/a	n/a
22	TAF1	chr7:128170967-128171305	SK-N-SH	brain:	n/a	n/a
23	POLR2A	chr7:128170641-128172625	HUVEC	blood vessel:	n/a	n/a
24	POLR2A	chr7:128170978-128171259	GM12891	blood:	n/a	n/a
25	POLR2A	chr7:128170929-128171584	K562	blood:	n/a	n/a
26	HA-E2F1	chr7:128170605-128171807	Hela-S3	cervix:	n/a	chr7:128171191-128171200 chr7:128171246-128171255 chr7:128170606-128170615 chr7:128171609-128171618 chr7:128171029-128171039 chr7:128171621-128171631 chr7:128171050-128171060 chr7:128171677-128171686
27	POLR2A	chr7:128170671-128171304	H1-hESC	embryonic stem cell:	n/a	n/a
28	USF1	chr7:128171060-128171341	SK-N-SH_RA	brain:	n/a	n/a
29	SP1	chr7:128170950-128171442	GM12878	blood:	n/a	chr7:128171242-128171256 chr7:128171245-128171257 chr7:128171245-128171257 chr7:128171026-128171035 chr7:128171024-128171036 chr7:128171247-128171256 chr7:128171024-128171036 chr7:128171246-128171255 chr7:128171025-128171034
30	POLR2A	chr7:128170814-128171613	Hela-S3	cervix:	n/a	n/a
31	ZBTB7A	chr7:128170962-128171417	K562	blood:	n/a	n/a
32	ATF3	chr7:128170954-128171294	K562	blood:	n/a	chr7:128171025-128171034 chr7:128171193-128171202
33	POU2F2	chr7:128171025-128171283	GM12878	blood:	n/a	chr7:128171243-128171255
34	JUN	chr7:128170792-128171985	K562	blood:	n/a	chr7:128171678-128171687 chr7:128171024-128171033
35	POLR2A	chr7:128170773-128171738	HUVEC	blood vessel:	n/a	n/a
36	POLR2A	chr7:128170827-128171561	GM12878	blood:	n/a	n/a
37	POLR2A	chr7:128170615-128172384	GM18951	blood:	n/a	n/a
38	MAX	chr7:128171027-128171373	MCF-7	breast:	n/a	n/a
39	CEBPD	chr7:128171003-128171461	HepG2	liver:	n/a	n/a
40	POLR2A	chr7:128170316-128172746	K562	blood:	n/a	n/a
41	POLR2A	chr7:128170935-128171616	HEK293	kidney:	n/a	n/a
42	POLR2A	chr7:128170629-128171987	GM19099	blood:	n/a	n/a
43	POLR2A	chr7:128170743-128171770	Hela-S3	cervix:	n/a	n/a
44	CREB1	chr7:128170951-128171328	A549	lung:	n/a	n/a
45	MYC	chr7:128171051-128171323	MCF10A-Er-Src	breast:	n/a	n/a
46	CEBPD	chr7:128171003-128171705	K562	blood:	n/a	n/a
47	PAX5	chr7:128171063-128171302	GM12878	blood:	n/a	chr7:128171228-128171237
48	MAX	chr7:128170825-128171570	K562	blood:	n/a	chr7:128171386-128171393
49	POLR2A	chr7:128170535-128172087	A549	lung:	n/a	n/a
50	POLR2A	chr7:128170616-128171254	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:60554358..60557025-chr7:128169837..128172731,3	MCF-7	breast:
2	chr17:60555036..60556427-chr7:128170464..128171900,5	Hela-S3	cervix:
3	chr7:128116465..128119803-chr7:128169321..128173196,4	MCF-7	breast:
4	chr7:128044227..128046158-chr7:128169736..128172586,2	K562	blood:
5	chr19:12903229..12903859-chr7:128170833..128171585,2	Hela-S3	cervix:
6	chr17:60555428..60556734-chr7:128170618..128172295,7	MCF-7	breast:
7	chr1:43423670..43424605-chr7:128170752..128171420,2	Hela-S3	cervix:
8	chr7:128095000..128097525-chr7:128170265..128171989,2	MCF-7	breast:
9	chr14:55878199..55878800-chr7:128170749..128171703,2	NB4	blood:
10	chr17:60555522..60557036-chr7:128169502..128171568,2	MCF-7	breast:
11	chr7:128094511..128096087-chr7:128168839..128171295,2	K562	blood:
12	chr7:128116092..128118343-chr7:128171049..128172892,4	K562	blood:
13	chr17:60555920..60556424-chr7:128170752..128171283,2	HCT-116	colon:
14	chr15:66796944..66797841-chr7:128170664..128171300,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000242588	TF binding region
ENSG00000146872	Chromatin interaction
ENSG00000106348	Chromatin interaction
ENSG00000174444	Chromatin interaction
ENSG00000126775	Chromatin interaction
ENSG00000135245	Chromatin interaction
ENSG00000240758	Chromatin interaction
ENSG00000174442	Chromatin interaction
ENSG00000273184	Chromatin interaction
ENSG00000117394	Chromatin interaction
ENSG00000165055	Chromatin interaction
ENSG00000095066	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3326672	chr7:128169741-128173589	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	esv3345652	chr7:128170041-128172564	Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	esv3370991	chr7:128170166-128172864	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128169200-128173000	Active TSS	Stomach Smooth Muscle	stomach
2	chr7:128169600-128174200	Active TSS	Fetal Brain Female	brain
3	chr7:128169800-128172400	Active TSS	Brain Cingulate Gyrus	brain
4	chr7:128169800-128172600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:128169800-128173000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr7:128169800-128173200	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr7:128169800-128173200	Active TSS	A549	lung
8	chr7:128169800-128173600	Active TSS	NHDF-Ad	bronchial
9	chr7:128169800-128173800	Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr7:128169800-128174000	Active TSS	NHLF	lung
11	chr7:128170000-128173000	Active TSS	Brain Anterior Caudate	brain
12	chr7:128170000-128173200	Active TSS	iPS-18 Cell Line	embryonic stem cell
13	chr7:128170000-128173200	Active TSS	Duodenum Smooth Muscle	Duodenum
14	chr7:128170000-128173200	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr7:128170000-128173200	Active TSS	Rectal Mucosa Donor 31	rectum
16	chr7:128170000-128173200	Active TSS	Osteobl	bone
17	chr7:128170000-128173400	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr7:128170000-128173400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:128170000-128173400	Active TSS	Right Ventricle	heart
20	chr7:128170000-128173600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr7:128170000-128173600	Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr7:128170000-128173600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr7:128170000-128173600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr7:128170000-128173600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr7:128170000-128173600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr7:128170000-128173600	Active TSS	Brain Germinal Matrix	brain
27	chr7:128170000-128173600	Active TSS	Rectal Smooth Muscle	rectum
28	chr7:128170000-128173600	Active TSS	HMEC	breast
29	chr7:128170200-128172200	Weak transcription	Stomach Mucosa	stomach
30	chr7:128170200-128172600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
31	chr7:128170200-128172600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr7:128170200-128172600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr7:128170200-128172600	Active TSS	Aorta	Aorta
34	chr7:128170200-128172600	Active TSS	Esophagus	oesophagus
35	chr7:128170200-128172600	Active TSS	Gastric	stomach
36	chr7:128170200-128172600	Active TSS	Ovary	ovary
37	chr7:128170200-128172600	Active TSS	Placenta Amnion	Placenta Amnion
38	chr7:128170200-128172600	Active TSS	Sigmoid Colon	Sigmoid Colon
39	chr7:128170200-128172800	Active TSS	Primary T cells from cord blood	blood
40	chr7:128170200-128173000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr7:128170200-128173000	Active TSS	H9 Cell Line	embryonic stem cell
42	chr7:128170200-128173200	Active TSS	Duodenum Mucosa	Duodenum
43	chr7:128170200-128173200	Active TSS	Fetal Intestine Small	intestine
44	chr7:128170200-128173400	Active TSS	H1 Cell Line	embryonic stem cell
45	chr7:128170200-128173400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr7:128170200-128173400	Active TSS	HUES48 Cell Line	embryonic stem cell
47	chr7:128170200-128173600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr7:128170200-128173600	Active TSS	HSMM	muscle
49	chr7:128170200-128174000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr7:128170200-128174000	Active TSS	HSMMtube	muscle

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