Variant report

Variant	rs372138758
Chromosome Location	chr4:7043177-7043178
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:7043168-7043218	CMK	blood:	n/a
2	chr4:7043168-7043218	NH-A	brain:	n/a
3	chr4:7043168-7043218	Jurkat	blood:	n/a
4	chr4:7043168-7043218	PANC-1	pancreas:	n/a
5	chr4:7043168-7043218	HEK293	kidney:	embryo
6	chr4:7043168-7043218	GM12892	blood:	n/a
7	chr4:7043168-7043218	SK-N-MC	brain:	n/a
8	chr4:7043168-7043218	SK-N-SH	brain:	n/a
9	chr4:7043168-7043218	SAEC	small airway:	n/a
10	chr4:7043168-7043218	LNCaP	prostate:	n/a
11	chr4:7043168-7043218	HNPCEpiC	eye:	n/a
12	chr4:7043168-7043218	GM12878	blood:	n/a
13	chr4:7043168-7043218	HCT-116	colon:	n/a
14	chr4:7043168-7043218	ProgFib	skin:	n/a
15	chr4:7043168-7043218	Hela-S3	cervix:	n/a
16	chr4:7043168-7043218	AG09319	gingival:	n/a
17	chr4:7043168-7043218	A549	lung:	n/a
18	chr4:7043168-7043218	H1-hESC	embryonic stem cell:	embryo
19	chr4:7043168-7043218	AoSMC	blood vessel:	n/a
20	chr4:7043168-7043218	BE2_C	brain:	n/a
21	chr4:7043168-7043218	MCF-7	breast:	n/a
22	chr4:7043168-7043218	HCM	heart:	n/a
23	chr4:7043168-7043218	HRCEpiC	kidney:	n/a
24	chr4:7043168-7043218	HRE	kidney:	n/a
25	chr4:7043168-7043218	HL-60	blood:	n/a
26	chr4:7043168-7043218	NT2-D1	testis:	n/a
27	chr4:7043168-7043218	HCF	heart:	n/a
28	chr4:7043168-7043218	HMEC	breast:	n/a
29	chr4:7043168-7043218	GM12891	blood:	n/a
30	chr4:7043168-7043218	ovcar-3	ovarian:	n/a
31	chr4:7043168-7043218	SK-N-SH_RA	brain:	n/a
32	chr4:7043168-7043218	HEEpiC	esophagus:	n/a
33	chr4:7043168-7043218	U87	brain:	n/a
34	chr4:7043168-7043218	BJ	skin:	n/a
35	chr4:7043168-7043218	K562	blood:	n/a
36	chr4:7043168-7043218	AG04450	lung:	fetal
37	chr4:7043168-7043218	HRPEpiC	eye:	n/a
38	chr4:7043168-7043218	T-47D	breast:	n/a
39	chr4:7043168-7043218	HepG2	liver:	n/a
40	chr4:7043168-7043218	GM19239	blood:	n/a
41	chr4:7043168-7043218	HCPEpiC	choroid plexus:	n/a
42	chr4:7043168-7043218	AG09309	skin:	n/a
43	chr4:7043168-7043218	ECC-1	luminal epithelium:	n/a
44	chr4:7043168-7043218	NHDF-neo	bronchial:	n/a
45	chr4:7043168-7043218	GM06990	blood:	n/a
46	chr4:7043168-7043218	NHBE	bronchial:	n/a
47	chr4:7043168-7043218	PrEC	prostate:	n/a
48	chr4:7043168-7043218	HAEpiC	amniotic membrane:	n/a
49	chr4:7043168-7043218	NB4	blood:	n/a
50	chr4:7043168-7043218	SKMC	muscle:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr4:6999677..7002587-chr4:7042055..7044238,2	K562	blood:
2	chr4:7041999..7051916-chr4:7066728..7075643,37	MCF-7	breast:
3	chr4:7042421..7051559-chr4:7062214..7072674,24	MCF-7	breast:
4	chr4:7041068..7043471-chr4:7072135..7073962,2	K562	blood:
5	chr4:6999660..7002155-chr4:7043088..7045317,3	MCF-7	breast:

No data

Variant related genes	Relation type
TADA2B	CpG island
ENSG00000132405	Chromatin interaction
ENSG00000109519	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv878530	chr4:6888932-7058473	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv34033	chr4:6973270-7390621	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv2757919	chr4:6988148-7269901	Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	esv2759221	chr4:6988148-7269901	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv428436	chr4:6988148-7269901	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	nsv469847	chr4:7003525-7168441	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
7	nsv878531	chr4:7006541-7129556	Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
8	nsv878532	chr4:7010504-7055603	Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
9	nsv878533	chr4:7032180-7063524	Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
10	nsv4217	chr4:7035512-7080230	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
11	nsv593548	chr4:7043099-7045945	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:6994000-7043200	Weak transcription	Right Atrium	heart
2	chr4:7011600-7043600	Weak transcription	Psoas Muscle	Psoas
3	chr4:7013200-7044400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr4:7018400-7043200	Weak transcription	Fetal Heart	heart
5	chr4:7032800-7044000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr4:7033000-7043600	Weak transcription	Fetal Kidney	kidney
7	chr4:7033200-7043600	Weak transcription	Fetal Brain Male	brain
8	chr4:7033400-7043200	Weak transcription	Colon Smooth Muscle	Colon
9	chr4:7033400-7043400	Weak transcription	HUVEC	blood vessel
10	chr4:7033800-7043800	Weak transcription	Small Intestine	intestine
11	chr4:7034400-7043400	Weak transcription	Primary B cells from cord blood	blood
12	chr4:7034400-7043600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr4:7034400-7043800	Weak transcription	Dnd41	blood
14	chr4:7034400-7044000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr4:7034400-7044000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr4:7034600-7043200	Weak transcription	Fetal Brain Female	brain
17	chr4:7034600-7043200	Weak transcription	Stomach Smooth Muscle	stomach
18	chr4:7034600-7043400	Weak transcription	Rectal Smooth Muscle	rectum
19	chr4:7034600-7043600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr4:7034600-7043800	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr4:7034800-7043600	Weak transcription	Primary B cells from peripheral blood	blood
22	chr4:7035000-7043800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr4:7035200-7043200	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr4:7035400-7043600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr4:7037000-7043200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr4:7037000-7043400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr4:7037000-7043400	Weak transcription	HSMM	muscle
28	chr4:7037000-7043600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr4:7037000-7043800	Weak transcription	NHEK	skin
30	chr4:7037200-7043400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr4:7037400-7043400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr4:7037600-7043400	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr4:7038400-7043400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr4:7038600-7043200	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr4:7038600-7043200	Weak transcription	NH-A	brain
36	chr4:7039000-7043200	Weak transcription	NHLF	lung
37	chr4:7039000-7043200	Weak transcription	Osteobl	bone
38	chr4:7039400-7043600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr4:7040000-7044000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr4:7040200-7043800	Weak transcription	K562	blood
41	chr4:7042400-7043600	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr4:7042600-7044200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
43	chr4:7042800-7043200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
44	chr4:7042800-7043400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr4:7042800-7043400	Enhancers	Brain Angular Gyrus	brain
46	chr4:7042800-7043400	Weak transcription	A549	lung
47	chr4:7042800-7043600	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr4:7042800-7043600	Genic enhancers	Fetal Intestine Small	intestine
49	chr4:7043000-7043200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr4:7043000-7043200	Enhancers	Primary neutrophils fromperipheralblood	blood

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