Variant report

Variant	rs71602501
Chromosome Location	chr4:673817-673818
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr4:673766-674171	H1-hESC	embryonic stem cell:	n/a	chr4:673968-673978 chr4:673993-674008 chr4:673993-674002 chr4:673995-674004 chr4:673996-674003
2	POLR2A	chr4:672654-673922	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr4:673700-673850	WERI-Rb-1	eye:	n/a	n/a
4	POLR2A	chr4:672978-673927	HepG2	liver:	n/a	n/a
5	POLR2A	chr4:666866-675998	K562	blood:	n/a	n/a
6	MAX	chr4:673764-674133	K562	blood:	n/a	chr4:673968-673978 chr4:673993-674008 chr4:673993-674002 chr4:673995-674004 chr4:673996-674003
7	MAX	chr4:673753-674225	H1-hESC	embryonic stem cell:	n/a	chr4:673968-673978 chr4:673993-674008 chr4:673993-674002 chr4:673995-674004 chr4:673996-674003
8	POLR2A	chr4:667296-675255	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr4:671014-674008	HepG2	liver:	n/a	n/a
10	POLR2A	chr4:670676-675301	MCF10A-Er-Src	breast:	n/a	n/a
11	E2F6	chr4:673413-674317	H1-hESC	embryonic stem cell:	n/a	chr4:673584-673596

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:673816-673866	ProgFib	skin:	n/a
2	chr4:673816-673866	HNPCEpiC	eye:	n/a
3	chr4:673816-673866	HCF	heart:	n/a
4	chr4:673816-673866	GM12891	blood:	n/a
5	chr4:673816-673866	PANC-1	pancreas:	n/a
6	chr4:673816-673866	HUVEC	blood vessel:	n/a
7	chr4:673816-673866	AG10803	skin:	n/a
8	chr4:673816-673866	SAEC	small airway:	n/a
9	chr4:673816-673866	BJ	skin:	n/a
10	chr4:673816-673866	MCF-7	breast:	n/a
11	chr4:673816-673866	ovcar-3	ovarian:	n/a
12	chr4:673816-673866	SK-N-SH_RA	brain:	n/a
13	chr4:673816-673866	HEEpiC	esophagus:	n/a
14	chr4:673816-673866	GM19239	blood:	n/a
15	chr4:673816-673866	HPAEpiC	pulmonary alveolar:	n/a
16	chr4:673816-673866	U87	brain:	n/a
17	chr4:673816-673866	NB4	blood:	n/a
18	chr4:673816-673866	IMR90	lung:	fetal
19	chr4:673816-673866	HCPEpiC	choroid plexus:	n/a
20	chr4:673816-673866	SK-N-SH	brain:	n/a
21	chr4:673816-673866	HIPEpiC	eye:	n/a
22	chr4:673816-673866	AG04450	lung:	fetal
23	chr4:673816-673866	A549	lung:	n/a
24	chr4:673816-673866	HRCEpiC	kidney:	n/a
25	chr4:673816-673866	Caco-2	colon:	n/a
26	chr4:673816-673866	AG09309	skin:	n/a
27	chr4:673816-673866	NH-A	brain:	n/a
28	chr4:673816-673866	GM12892	blood:	n/a
29	chr4:673816-673866	NHBE	bronchial:	n/a
30	chr4:673816-673866	SK-N-MC	brain:	n/a
31	chr4:673816-673866	CMK	blood:	n/a
32	chr4:673816-673866	T-47D	breast:	n/a
33	chr4:673816-673866	PFSK-1	brain:	n/a
34	chr4:673816-673866	HL-60	blood:	n/a
35	chr4:673816-673866	HAEpiC	amniotic membrane:	n/a
36	chr4:673816-673866	AG09319	gingival:	n/a
37	chr4:673816-673866	HRE	kidney:	n/a
38	chr4:673816-673866	K562	blood:	n/a
39	chr4:673816-673866	HEK293	kidney:	embryo
40	chr4:673816-673866	MCF10A-Er-Src	breast:	n/a
41	chr4:673816-673866	AoSMC	blood vessel:	n/a
42	chr4:673816-673866	HepG2	liver:	n/a
43	chr4:673816-673866	Hepatocyte	liver:	n/a
44	chr4:673816-673866	Jurkat	blood:	n/a
45	chr4:673816-673866	NT2-D1	testis:	n/a
46	chr4:673816-673866	HCT-116	colon:	n/a
47	chr4:673816-673866	NHDF-neo	bronchial:	n/a
48	chr4:673816-673866	BE2_C	brain:	n/a
49	chr4:673816-673866	AG04449	skin:	fetal
50	chr4:673816-673866	SKMC	muscle:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:672883..676399-chr4:697081..701106,5	MCF-7	breast:
2	chr4:658187..662144-chr4:672176..676426,5	MCF-7	breast:
3	chr4:671080..676330-chr4:771868..776883,7	K562	blood:
4	chr4:596138..597128-chr4:673282..674051,3	MCF-7	breast:

No data

Variant related genes	Relation type
MYL5	TF binding region
MYL5	CpG island
ENSG00000249592	Chromatin interaction
ENSG00000185619	Chromatin interaction
ENSG00000133256	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs13104878	0.81[EUR][1000 genomes]
rs13110755	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13114299	0.81[EUR][1000 genomes]
rs35621318	0.81[EUR][1000 genomes]
rs35925646	0.81[EUR][1000 genomes]
rs61760239	0.81[EUR][1000 genomes]
rs71602500	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011715	chr4:43860-823487	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	esv2830422	chr4:72247-681939	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv931097	chr4:72447-683874	Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv532702	chr4:72447-755236	Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
5	nsv1005224	chr4:507005-900281	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Strong transcription Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	nsv536976	chr4:507005-900281	Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
7	nsv878245	chr4:509178-694613	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
8	nsv822425	chr4:540105-1413799	Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
9	nsv878246	chr4:592507-696848	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
10	esv2757916	chr4:603208-931354	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
11	esv2759217	chr4:603208-931354	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
12	nsv878247	chr4:607202-925149	Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
13	nsv530490	chr4:614355-1399150	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
14	nsv593206	chr4:625962-735150	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
15	nsv878248	chr4:645300-685993	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
16	nsv878249	chr4:649639-691026	Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
17	esv1829397	chr4:655939-1041957	Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
18	nsv829834	chr4:665477-775524	Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
19	nsv10413	chr4:667204-684301	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
20	nsv593208	chr4:668000-682233	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
21	nsv878250	chr4:668567-683842	Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
22	nsv878251	chr4:669857-683842	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
23	nsv878252	chr4:669857-685993	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:668800-674400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr4:669200-674200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr4:669200-674400	Weak transcription	Fetal Lung	lung
4	chr4:669400-674000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr4:669400-674200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr4:669400-674200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr4:669400-674200	Weak transcription	NH-A	brain
8	chr4:669400-674400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr4:669400-674400	Weak transcription	Ovary	ovary
10	chr4:669400-674400	Weak transcription	Right Atrium	heart
11	chr4:669400-674600	Enhancers	Placenta	Placenta
12	chr4:669400-674600	Weak transcription	HUVEC	blood vessel
13	chr4:669600-674000	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr4:669600-674000	Weak transcription	Primary hematopoietic stem cells	blood
15	chr4:669600-674000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr4:669600-674000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr4:669600-674000	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr4:669600-674200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr4:669600-674200	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr4:669600-674200	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr4:669600-674200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr4:669600-674200	Weak transcription	Osteobl	bone
23	chr4:669600-674400	Weak transcription	Primary T cells from cord blood	blood
24	chr4:669600-674400	Weak transcription	NHLF	lung
25	chr4:669600-674600	Weak transcription	Left Ventricle	heart
26	chr4:669600-674600	Weak transcription	Small Intestine	intestine
27	chr4:669800-674000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr4:669800-674200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr4:669800-674200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr4:669800-674200	Weak transcription	Brain Hippocampus Middle	brain
31	chr4:669800-674600	Weak transcription	Brain Anterior Caudate	brain
32	chr4:669800-674600	Weak transcription	Brain Substantia Nigra	brain
33	chr4:670000-674000	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr4:670000-674000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr4:670000-674000	Weak transcription	Lung	lung
36	chr4:670000-674200	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr4:670000-674600	Weak transcription	Liver	Liver
38	chr4:670200-674000	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr4:670200-674200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr4:670200-674400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr4:670200-674600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr4:670400-674600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr4:670600-674200	Weak transcription	K562	blood
44	chr4:670800-674600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr4:671000-674200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr4:671000-674200	Weak transcription	Fetal Heart	heart
47	chr4:671200-674200	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr4:671200-674200	Weak transcription	Primary B cells from cord blood	blood
49	chr4:671200-674400	Flanking Active TSS	Fetal Muscle Trunk	muscle
50	chr4:671200-674400	Weak transcription	Placenta Amnion	Placenta Amnion

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