Variant report

Variant	rs375522274
Chromosome Location	chr7:140372621-140372622
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	POLR2A	chr7:140372380-140373159	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr7:140372526-140373472	H1-neurons	neurons:	n/a	n/a
3	MAX	chr7:140372431-140373722	H1-hESC	embryonic stem cell:	n/a	chr7:140372802-140372812 chr7:140372990-140373000
4	YY1	chr7:140372455-140372699	ECC-1	luminal epithelium:	n/a	chr7:140372490-140372502
5	POLR2A	chr7:140372420-140373536	GM12878	blood:	n/a	n/a
6	POLR2A	chr7:140372433-140373614	HCT-116	colon:	n/a	n/a
7	POLR2A	chr7:140372503-140372629	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr7:140372586-140373645	K562	blood:	n/a	n/a
9	POLR2A	chr7:140372447-140373749	HEK293	kidney:	n/a	n/a
10	POLR2A	chr7:140372572-140373509	K562	blood:	n/a	n/a
11	E2F6	chr7:140372447-140373554	K562	blood:	n/a	chr7:140372848-140372858 chr7:140372998-140373013
12	MAZ	chr7:140372359-140373651	GM12878	blood:	n/a	chr7:140372802-140372812 chr7:140372990-140373000
13	ELF1	chr7:140372574-140374124	GM12878	blood:	n/a	chr7:140372797-140372809
14	POLR2A	chr7:140372427-140373802	MCF-7	breast:	n/a	n/a
15	ZEB1	chr7:140372503-140374016	GM12878	blood:	n/a	n/a
16	MAZ	chr7:140372063-140373834	K562	blood:	n/a	chr7:140372802-140372812 chr7:140372990-140373000
17	RUNX3	chr7:140372420-140372655	GM12878	blood:	n/a	n/a
18	POLR2A	chr7:140372437-140373543	GM12878	blood:	n/a	n/a
19	NR2F2	chr7:140372507-140373810	MCF-7	breast:	n/a	n/a
20	MAX	chr7:140372607-140373664	GM12878	blood:	n/a	chr7:140372802-140372812 chr7:140372990-140373000
21	TCF12	chr7:140372488-140372662	H1-hESC	embryonic stem cell:	n/a	n/a
22	ZBTB7A	chr7:140372495-140373469	K562	blood:	n/a	n/a
23	MYC	chr7:140372576-140373625	K562	blood:	n/a	chr7:140372802-140372812 chr7:140372990-140373000
24	MAX	chr7:140372457-140373758	MCF-7	breast:	n/a	chr7:140372802-140372812 chr7:140372990-140373000
25	POLR2A	chr7:140372491-140372639	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr7:140372402-140373583	GM12892	blood:	n/a	n/a
27	TAF1	chr7:140372453-140373594	ECC-1	luminal epithelium:	n/a	n/a
28	POLR2A	chr7:140372379-140374681	Raji	blood:	n/a	n/a
29	YY1	chr7:140372365-140372635	H1-hESC	embryonic stem cell:	n/a	chr7:140372490-140372502
30	CTCF	chr7:140372520-140372670	GM12867	blood:	n/a	chr7:140372556-140372563
31	YY1	chr7:140372435-140372689	GM12891	blood:	n/a	chr7:140372490-140372502
32	HMGN3	chr7:140372473-140373679	K562	blood:	n/a	n/a
33	MAX	chr7:140372473-140373726	ECC-1	luminal epithelium:	n/a	chr7:140372802-140372812 chr7:140372990-140373000
34	MAX	chr7:140372518-140373519	A549	lung:	n/a	chr7:140372802-140372812 chr7:140372990-140373000
35	POLR2A	chr7:140372551-140373386	HepG2	liver:	n/a	n/a
36	POLR2A	chr7:140372436-140373657	HCT-116	colon:	n/a	n/a
37	MAX	chr7:140372534-140373468	HepG2	liver:	n/a	chr7:140372802-140372812 chr7:140372990-140373000
38	CTCF	chr7:140372480-140372630	HEK293	kidney:	n/a	chr7:140372556-140372563
39	YY1	chr7:140372484-140372648	K562	blood:	n/a	chr7:140372490-140372502
40	MAX	chr7:140372430-140373471	ECC-1	luminal epithelium:	n/a	chr7:140372802-140372812 chr7:140372990-140373000
41	POLR2A	chr7:140372504-140373525	A549	lung:	n/a	n/a
42	REST	chr7:140372606-140373421	H1-neurons	neurons:	n/a	chr7:140372802-140372815 chr7:140373022-140373035 chr7:140372979-140372989
43	POLR2A	chr7:140372425-140373584	GM18526	blood:	n/a	n/a
44	POLR2A	chr7:140372402-140373630	GM12891	blood:	n/a	n/a
45	POLR2A	chr7:140372503-140372640	A549	lung:	n/a	n/a
46	POLR2A	chr7:140372504-140373776	MCF-7	breast:	n/a	n/a
47	MYC	chr7:140372563-140372956	MCF-7	breast:	n/a	chr7:140372802-140372812
48	HEY1	chr7:140372536-140372970	HepG2	liver:	n/a	chr7:140372788-140372803 chr7:140372809-140372824
49	POLR2A	chr7:140372513-140373370	HepG2	liver:	n/a	n/a
50	POLR2A	chr7:140372580-140372978	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:140370608..140383131-chr7:140387718..140398587,28	MCF-7	breast:
2	chr7:140371506..140376729-chr7:140377280..140380130,6	K562	blood:
3	chr7:140371233..140372859-chr7:140417535..140420248,2	MCF-7	breast:
4	chr7:140371560..140374067-chr7:140396511..140398663,2	K562	blood:
5	chr7:140371193..140374993-chr7:140376654..140380151,6	MCF-7	breast:
6	chr7:140358444..140360553-chr7:140370671..140372780,2	MCF-7	breast:
7	chr7:140366280..140367939-chr7:140371289..140372844,2	MCF-7	breast:
8	chr7:140370275..140375389-chr7:140393210..140401279,16	MCF-7	breast:

Variant related genes	Relation type
ADCK2	TF binding region
ENSG00000090266	Chromatin interaction
ENSG00000133597	Chromatin interaction
ENSG00000240889	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	nsv831157	chr7:140241339-140426876	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	esv3373922	chr7:140371933-140374031	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140372000-140372800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr7:140372000-140372800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr7:140372000-140373000	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr7:140372000-140373200	Active TSS	Brain Hippocampus Middle	brain
5	chr7:140372000-140373400	Active TSS	Primary T helper naive cells from peripheral blood	blood
6	chr7:140372200-140372800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr7:140372200-140372800	Active TSS	Primary hematopoietic stem cells short term culture	blood
8	chr7:140372200-140372800	Weak transcription	Spleen	Spleen
9	chr7:140372200-140373000	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr7:140372200-140373000	Active TSS	Liver	Liver
11	chr7:140372200-140373000	Active TSS	Skeletal Muscle Male	skeletal muscle
12	chr7:140372200-140373000	Active TSS	Stomach Smooth Muscle	stomach
13	chr7:140372200-140373200	Active TSS	H1 Cell Line	embryonic stem cell
14	chr7:140372200-140373200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr7:140372200-140373200	Active TSS	Muscle Satellite Cultured Cells	--
16	chr7:140372200-140373200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr7:140372200-140373200	Active TSS	GM12878-XiMat	blood
18	chr7:140372200-140373400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr7:140372200-140373400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
20	chr7:140372200-140373400	Active TSS	Brain Inferior Temporal Lobe	brain
21	chr7:140372200-140373400	Active TSS	Fetal Brain Female	brain
22	chr7:140372200-140373400	Active TSS	Placenta	Placenta
23	chr7:140372200-140373400	Active TSS	Right Atrium	heart
24	chr7:140372200-140373600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr7:140372200-140373600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr7:140372200-140373600	Active TSS	Brain Angular Gyrus	brain
27	chr7:140372200-140373800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr7:140372200-140373800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr7:140372200-140374000	Active TSS	Duodenum Smooth Muscle	Duodenum
30	chr7:140372400-140372800	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr7:140372400-140373000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr7:140372400-140373000	Active TSS	Cortex derived primary cultured neurospheres	brain
33	chr7:140372400-140373200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr7:140372400-140373200	Active TSS	Primary B cells from cord blood	blood
35	chr7:140372400-140373200	Active TSS	Primary T cells fromperipheralblood	blood
36	chr7:140372400-140373200	Active TSS	Brain Germinal Matrix	brain
37	chr7:140372400-140373200	Active TSS	Colonic Mucosa	Colon
38	chr7:140372400-140373200	Active TSS	Duodenum Mucosa	Duodenum
39	chr7:140372400-140373200	Active TSS	Fetal Lung	lung
40	chr7:140372400-140373200	Active TSS	Fetal Muscle Trunk	muscle
41	chr7:140372400-140373200	Active TSS	Pancreas	Pancrea
42	chr7:140372400-140373200	Active TSS	Skeletal Muscle Female	skeletal muscle
43	chr7:140372400-140373200	Weak transcription	Stomach Mucosa	stomach
44	chr7:140372400-140373200	Active TSS	Thymus	Thymus
45	chr7:140372400-140373200	Active TSS	NH-A	brain
46	chr7:140372400-140373200	Active TSS	NHEK	skin
47	chr7:140372400-140373200	Active TSS	Osteobl	bone
48	chr7:140372400-140373400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr7:140372400-140373400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr7:140372400-140373400	Active TSS	Primary T helper 17 cells PMA-I stimulated	--

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