Variant report

Variant	rs10030136
Chromosome Location	chr4:676992-676993
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:595977..599927-chr4:674651..678190,4	MCF-7	breast:
2	chr4:675556..677159-chr4:698083..699991,3	K562	blood:
3	chr4:674880..677107-chr4:756612..759495,2	MCF-7	breast:
4	chr4:675536..678279-chr4:719522..721602,2	K562	blood:
5	chr4:675712..677367-chr4:684331..686436,2	MCF-7	breast:
6	chr4:676665..678660-chr4:1340906..1343880,2	MCF-7	breast:
7	chr4:676118..678375-chr4:722491..724316,2	K562	blood:
8	chr4:675798..677554-chr4:822582..825253,2	K562	blood:

Variant related genes	Relation type
ENSG00000163945	Chromatin interaction
ENSG00000233799	Chromatin interaction
ENSG00000185619	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10027549	1.00[ASN][1000 genomes]
rs1135375	1.00[ASN][1000 genomes]
rs28470912	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28483373	1.00[ASN][1000 genomes]
rs28488910	1.00[ASN][1000 genomes]
rs28525003	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28568555	1.00[ASN][1000 genomes]
rs28569875	1.00[ASN][1000 genomes]
rs28573204	1.00[ASN][1000 genomes]
rs28583078	1.00[ASN][1000 genomes]
rs28630797	1.00[ASN][1000 genomes]
rs28742266	1.00[ASN][1000 genomes]
rs28742899	1.00[ASN][1000 genomes]
rs3864130	1.00[ASN][1000 genomes]
rs3864131	1.00[ASN][1000 genomes]
rs3891250	1.00[ASN][1000 genomes]
rs4463020	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4518182	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58227539	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60316402	1.00[ASN][1000 genomes]
rs71602496	1.00[ASN][1000 genomes]
rs73056602	1.00[ASN][1000 genomes]
rs73058406	1.00[ASN][1000 genomes]
rs7436737	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9985747	0.81[EUR][1000 genomes]
rs9991613	1.00[ASN][1000 genomes]
rs9992641	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 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
24	esv3326174	chr4:675602-678100	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs10030136	RP11-1191J2.2	cis	Thyroid	GTEx
rs10030136	MFSD7	cis	Esophagus Muscularis	GTEx
rs10030136	RP11-1191J2.2	cis	lung	GTEx
rs10030136	RP11-1191J2.2	cis	Nerve Tibial	GTEx

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:673600-677400	Enhancers	Spleen	Spleen
2	chr4:674200-678200	Enhancers	Esophagus	oesophagus
3	chr4:675000-677600	Weak transcription	Fetal Lung	lung
4	chr4:675000-680800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr4:675200-677000	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr4:675200-677000	Weak transcription	Brain Substantia Nigra	brain
7	chr4:675200-677200	Weak transcription	Liver	Liver
8	chr4:675200-677200	Weak transcription	Brain Hippocampus Middle	brain
9	chr4:675200-677200	Weak transcription	Left Ventricle	heart
10	chr4:675200-677400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr4:675200-677400	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr4:675200-677400	Weak transcription	Brain Anterior Caudate	brain
13	chr4:675200-677400	Weak transcription	Brain Cingulate Gyrus	brain
14	chr4:675200-677400	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr4:675200-677400	Weak transcription	HSMM	muscle
16	chr4:675200-677600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr4:675200-677600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr4:675200-677600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr4:675200-677600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr4:675200-677600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr4:675200-677600	Weak transcription	HSMMtube	muscle
22	chr4:675200-678000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
23	chr4:675200-678000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr4:675200-678400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr4:675200-678800	Enhancers	Placenta	Placenta
26	chr4:675200-680400	Weak transcription	NHDF-Ad	bronchial
27	chr4:675200-680600	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr4:675200-680600	Weak transcription	NH-A	brain
29	chr4:675200-680800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr4:675200-680800	Weak transcription	NHLF	lung
31	chr4:675200-682200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr4:675200-682400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr4:675200-682600	Weak transcription	GM12878-XiMat	blood
34	chr4:675400-677000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr4:675400-677000	Genic enhancers	Fetal Muscle Leg	muscle
36	chr4:675400-677200	Weak transcription	Psoas Muscle	Psoas
37	chr4:675400-677400	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr4:675400-677400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr4:675400-677400	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr4:675400-677400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr4:675400-677600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr4:675400-677800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr4:675400-678000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr4:675400-680600	Weak transcription	Osteobl	bone
45	chr4:675400-680800	Weak transcription	Primary B cells from cord blood	blood
46	chr4:675400-681600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr4:675400-681800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr4:675400-682400	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr4:675800-677000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr4:675800-677000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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