Variant report

Variant	rs7695631
Chromosome Location	chr4:3297743-3297744
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:3287370..3290195-chr4:3296120..3298356,2	K562	blood:
2	chr4:3297687..3301019-chr4:3306995..3308843,3	K562	blood:
3	chr4:3294234..3297919-chr4:3387466..3390148,3	MCF-7	breast:
4	chr4:3297413..3300399-chr4:3305342..3309576,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000159788	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10006362	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10212869	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs12500527	0.88[ASN][1000 genomes]
rs13115912	0.82[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs13152170	0.93[CHB][hapmap];1.00[JPT][hapmap]
rs13152222	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16844212	0.96[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs28600049	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35494582	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58982717	0.82[ASN][1000 genomes]
rs59594429	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs66852340	0.89[ASN][1000 genomes]
rs6829279	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6843312	0.81[CHB][hapmap];0.90[JPT][hapmap]
rs6852922	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6855619	0.81[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs743699	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7668784	0.88[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs7679872	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv998290	chr4:3176454-3355758	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv878454	chr4:3215835-3305739	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv878455	chr4:3215835-3344891	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers 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	10 gene(s)	inside rSNPs	diseases
6	nsv878456	chr4:3215835-3467519	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv428106	chr4:3226182-3752322	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS 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	33 gene(s)	inside rSNPs	diseases
8	nsv878458	chr4:3235518-3303976	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
9	nsv878459	chr4:3235518-3310831	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	7 gene(s)	inside rSNPs	diseases
10	nsv878460	chr4:3260154-3303976	Strong transcription Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
11	nsv878461	chr4:3270488-3339038	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
12	nsv593440	chr4:3283422-3339038	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription 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	9 gene(s)	inside rSNPs	diseases
13	nsv461165	chr4:3283422-3342137	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
14	nsv593441	chr4:3283422-3342137	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3294600-3308800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr4:3295400-3298400	Weak transcription	Aorta	Aorta
3	chr4:3295600-3300600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr4:3296000-3300800	Weak transcription	Right Atrium	heart
5	chr4:3296000-3301000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr4:3296000-3301000	Weak transcription	Psoas Muscle	Psoas
7	chr4:3296000-3306000	Weak transcription	Colon Smooth Muscle	Colon
8	chr4:3296200-3300800	Weak transcription	HSMMtube	muscle
9	chr4:3296200-3301200	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr4:3296200-3301200	Weak transcription	Brain Hippocampus Middle	brain
11	chr4:3296400-3298600	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr4:3296400-3299600	ZNF genes & repeats	Fetal Stomach	stomach
13	chr4:3296400-3300800	Weak transcription	Primary T cells from cord blood	blood
14	chr4:3296400-3301800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr4:3296600-3299200	Weak transcription	Adipose Nuclei	Adipose
16	chr4:3296600-3299200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr4:3296600-3300600	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr4:3296600-3300800	Weak transcription	Ovary	ovary
19	chr4:3296600-3300800	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr4:3296600-3301200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr4:3296600-3318600	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr4:3296800-3298200	Strong transcription	Cortex derived primary cultured neurospheres	brain
23	chr4:3296800-3298200	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr4:3296800-3299200	Weak transcription	NHLF	lung
25	chr4:3296800-3300600	Weak transcription	Fetal Heart	heart
26	chr4:3296800-3300800	Weak transcription	Left Ventricle	heart
27	chr4:3296800-3300800	Weak transcription	Lung	lung
28	chr4:3296800-3300800	Weak transcription	Right Ventricle	heart
29	chr4:3296800-3301400	Weak transcription	Fetal Brain Male	brain
30	chr4:3296800-3301600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr4:3296800-3301800	Weak transcription	Gastric	stomach
32	chr4:3296800-3306800	Weak transcription	Pancreas	Pancrea
33	chr4:3297000-3297800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr4:3297000-3298000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr4:3297000-3298200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr4:3297000-3298200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr4:3297000-3298200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr4:3297000-3298200	Weak transcription	Fetal Brain Female	brain
39	chr4:3297000-3298200	Weak transcription	Stomach Smooth Muscle	stomach
40	chr4:3297000-3298400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr4:3297000-3298400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr4:3297000-3298400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr4:3297000-3298600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr4:3297000-3298800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr4:3297000-3299200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr4:3297000-3299200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr4:3297000-3300400	Weak transcription	Fetal Kidney	kidney
48	chr4:3297000-3300600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr4:3297000-3301000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr4:3297000-3301000	Weak transcription	Fetal Muscle Leg	muscle

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