Variant report

Variant	rs71608242
Chromosome Location	chr4:2807729-2807730
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:33)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:33 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr4:2807689-2807737	MCF10A-Er-Src	breast:	n/a	n/a
2	TBP	chr4:2807613-2807763	Hela-S3	cervix:	n/a	n/a
3	NFIC	chr4:2807328-2808055	ECC-1	luminal epithelium:	n/a	n/a
4	TCF12	chr4:2807358-2807928	ECC-1	luminal epithelium:	n/a	chr4:2807768-2807775 chr4:2807769-2807779
5	POLR2A	chr4:2807457-2807912	HUVEC	blood vessel:	n/a	n/a
6	POLR2A	chr4:2807130-2807902	Hela-S3	cervix:	n/a	n/a
7	CEBPB	chr4:2807577-2807790	Hela-S3	cervix:	n/a	n/a
8	MAFK	chr4:2807572-2807772	Hela-S3	cervix:	n/a	n/a
9	BRCA1	chr4:2807535-2807857	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr4:2807487-2807854	ECC-1	luminal epithelium:	n/a	n/a
11	NR2F2	chr4:2807458-2807833	MCF-7	breast:	n/a	n/a
12	ZKSCAN1	chr4:2807502-2807962	Hela-S3	cervix:	n/a	n/a
13	MXI1	chr4:2807502-2807794	Hela-S3	cervix:	n/a	n/a
14	NR3C1	chr4:2807541-2807825	ECC-1	luminal epithelium:	n/a	n/a
15	MAX	chr4:2807407-2807951	ECC-1	luminal epithelium:	n/a	n/a
16	TEAD4	chr4:2807335-2807859	ECC-1	luminal epithelium:	n/a	n/a
17	MAX	chr4:2807362-2808016	ECC-1	luminal epithelium:	n/a	n/a
18	NFIC	chr4:2807300-2808079	ECC-1	luminal epithelium:	n/a	n/a
19	SMC3	chr4:2807455-2807860	Hela-S3	cervix:	n/a	n/a
20	MYC	chr4:2807493-2807774	HUVEC	blood vessel:	n/a	n/a
21	ZBTB7A	chr4:2807030-2808245	ECC-1	luminal epithelium:	n/a	chr4:2807436-2807444
22	RCOR1	chr4:2807496-2807774	Hela-S3	cervix:	n/a	n/a
23	MAZ	chr4:2807318-2807756	Hela-S3	cervix:	n/a	n/a
24	MAX	chr4:2807452-2807925	Hela-S3	cervix:	n/a	n/a
25	MAX	chr4:2807476-2807835	MCF-7	breast:	n/a	n/a
26	POLR2A	chr4:2807515-2807974	HUVEC	blood vessel:	n/a	n/a
27	CHD2	chr4:2807506-2807897	Hela-S3	cervix:	n/a	n/a
28	TFAP2A	chr4:2807439-2808040	Hela-S3	cervix:	n/a	chr4:2807683-2807698 chr4:2807685-2807700
29	MYC	chr4:2807429-2807855	MCF10A-Er-Src	breast:	n/a	n/a
30	ELF1	chr4:2807557-2808139	GM12878	blood:	n/a	n/a
31	RAD21	chr4:2807582-2807782	Hela-S3	cervix:	n/a	n/a
32	TEAD4	chr4:2807400-2807926	ECC-1	luminal epithelium:	n/a	n/a
33	TFAP2C	chr4:2807333-2808087	Hela-S3	cervix:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr4:2805467..2811002-chr4:2816486..2823721,11	MCF-7	breast:
2	chr4:2790052..2809152-chr4:2930639..2948075,83	MCF-7	breast:
3	chr4:2806060..2809541-chr4:2819791..2822068,4	MCF-7	breast:
4	chr4:2807216..2810880-chr4:2811664..2814785,3	MCF-7	breast:

No data

Variant related genes	Relation type
SH3BP2	TF binding region
ENSG00000249673	Chromatin interaction
ENSG00000109736	Chromatin interaction
ENSG00000087266	Chromatin interaction
ENSG00000087269	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10030687	1.00[AFR][1000 genomes]
rs13125136	1.00[AMR][1000 genomes]
rs13152126	1.00[AMR][1000 genomes]
rs35389119	0.84[EUR][1000 genomes]
rs71608219	1.00[AMR][1000 genomes]
rs71608238	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948659	chr4:1828867-2815632	ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription 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	99 gene(s)	inside rSNPs	diseases
2	nsv1005116	chr4:2633935-2812340	Bivalent/Poised TSS Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv878444	chr4:2689449-2861090	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv470002	chr4:2701098-2836628	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv878445	chr4:2704046-2831383	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv878446	chr4:2710644-2810634	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv878447	chr4:2723531-2831383	Flanking Active TSS Bivalent/Poised TSS Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
8	nsv516797	chr4:2723531-2836628	Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
9	nsv878448	chr4:2723531-2846799	Flanking Active TSS Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
10	esv3418626	chr4:2741174-3461492	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
11	esv3397632	chr4:2741239-3460583	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats 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	63 gene(s)	inside rSNPs	diseases
12	nsv878449	chr4:2744480-2831383	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
13	nsv1002517	chr4:2747905-2822017	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
14	nsv878450	chr4:2760222-2861090	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
15	nsv593435	chr4:2770772-2881256	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
16	nsv878451	chr4:2785556-2856687	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
17	nsv878452	chr4:2789184-2830076	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
18	nsv1010533	chr4:2792848-2873441	Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
19	nsv461162	chr4:2794320-2846799	Strong transcription Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
20	nsv593436	chr4:2794320-2846799	Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:2796200-2813800	Enhancers	Left Ventricle	heart
2	chr4:2796600-2814600	Enhancers	Stomach Mucosa	stomach
3	chr4:2798400-2809600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr4:2801800-2809800	Enhancers	Fetal Intestine Large	intestine
5	chr4:2802800-2808400	Weak transcription	Brain Angular Gyrus	brain
6	chr4:2802800-2808800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr4:2802800-2810200	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr4:2803000-2808600	Enhancers	Fetal Muscle Leg	muscle
9	chr4:2803000-2810600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr4:2803200-2811600	Enhancers	Right Ventricle	heart
11	chr4:2803200-2813400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr4:2803400-2808200	Weak transcription	HSMMtube	muscle
13	chr4:2803400-2808400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr4:2803400-2808400	Weak transcription	Thymus	Thymus
15	chr4:2803400-2808600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr4:2803400-2808600	Enhancers	Duodenum Mucosa	Duodenum
17	chr4:2803400-2808600	Weak transcription	Osteobl	bone
18	chr4:2803400-2811600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr4:2803400-2812800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr4:2803400-2819200	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr4:2803600-2808200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr4:2803600-2808200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr4:2803600-2808600	Enhancers	GM12878-XiMat	blood
24	chr4:2803600-2808600	Weak transcription	NH-A	brain
25	chr4:2803600-2809000	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr4:2803600-2812600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr4:2803600-2813000	Weak transcription	Primary T cells from cord blood	blood
28	chr4:2803600-2813200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr4:2803600-2813400	Enhancers	Primary B cells from cord blood	blood
30	chr4:2803800-2808600	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr4:2803800-2813000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr4:2804200-2811400	Weak transcription	HepG2	liver
33	chr4:2804400-2811800	Genic enhancers	Primary monocytes fromperipheralblood	blood
34	chr4:2804400-2811800	Genic enhancers	Spleen	Spleen
35	chr4:2804600-2807800	Enhancers	Rectal Mucosa Donor 29	rectum
36	chr4:2804600-2809400	Enhancers	Sigmoid Colon	Sigmoid Colon
37	chr4:2804600-2810000	Enhancers	Lung	lung
38	chr4:2804600-2813800	Genic enhancers	Placenta	Placenta
39	chr4:2804800-2809600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr4:2805200-2809600	Genic enhancers	Fetal Intestine Small	intestine
41	chr4:2805600-2807800	Enhancers	Duodenum Smooth Muscle	Duodenum
42	chr4:2805600-2807800	Weak transcription	Psoas Muscle	Psoas
43	chr4:2805600-2809000	Enhancers	Primary hematopoietic stem cells	blood
44	chr4:2805800-2807800	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr4:2805800-2808600	Enhancers	Brain Hippocampus Middle	brain
46	chr4:2805800-2809400	Enhancers	Fetal Brain Male	brain
47	chr4:2805800-2810000	Enhancers	Fetal Muscle Trunk	muscle
48	chr4:2805800-2812400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr4:2806000-2808400	Enhancers	Esophagus	oesophagus
50	chr4:2806000-2814600	Enhancers	Liver	Liver

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