Variant report

Variant	rs10049904
Chromosome Location	chr4:8026166-8026167
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr4:8026060-8026210	GM12875	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:8021380..8023890-chr4:8026077..8027621,2	MCF-7	breast:
2	chr4:8019469..8024052-chr4:8025659..8029825,5	MCF-7	breast:
3	chr4:8021662..8023195-chr4:8024850..8026832,2	K562	blood:

Variant related genes	Relation type
ABLIM2	TF binding region
ENSG00000163995	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11728253	0.95[CEU][hapmap];0.86[CHB][hapmap];0.88[JPT][hapmap];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2385904	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6825435	0.89[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.86[EUR][1000 genomes];0.93[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	nsv491712	chr4:7582506-8155069	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	esv34140	chr4:7787936-8172491	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats 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	18 gene(s)	inside rSNPs	diseases
3	nsv829851	chr4:7958698-8049060	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
4	nsv469779	chr4:7965253-8177646	Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
5	nsv482448	chr4:7965253-8177646	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
6	nsv829852	chr4:7991906-8151267	Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
7	nsv878580	chr4:8012167-8045469	Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv470009	chr4:8015421-8085174	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv878581	chr4:8021592-8100272	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv878582	chr4:8023484-8047973	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv878583	chr4:8023484-8049713	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv878584	chr4:8023484-8075134	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv878585	chr4:8023484-8116202	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv878586	chr4:8023484-8148159	Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8010600-8052000	Weak transcription	Left Ventricle	heart
2	chr4:8012400-8039000	Weak transcription	Gastric	stomach
3	chr4:8012800-8035000	Weak transcription	Pancreas	Pancrea
4	chr4:8013000-8036600	Weak transcription	Right Ventricle	heart
5	chr4:8014800-8031400	Strong transcription	Skeletal Muscle Female	skeletal muscle
6	chr4:8016400-8027400	Weak transcription	Aorta	Aorta
7	chr4:8017400-8040400	Weak transcription	Right Atrium	heart
8	chr4:8018800-8027200	Weak transcription	Psoas Muscle	Psoas
9	chr4:8020000-8031400	Strong transcription	Skeletal Muscle Male	skeletal muscle
10	chr4:8022000-8037600	Weak transcription	Lung	lung
11	chr4:8022200-8040600	Weak transcription	Fetal Brain Female	brain
12	chr4:8022400-8031000	Weak transcription	Esophagus	oesophagus
13	chr4:8022400-8035400	Weak transcription	Brain Anterior Caudate	brain
14	chr4:8022400-8039000	Weak transcription	Brain Angular Gyrus	brain
15	chr4:8023200-8039600	Weak transcription	Brain Germinal Matrix	brain
16	chr4:8023200-8041000	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr4:8023600-8029200	Weak transcription	Brain Hippocampus Middle	brain
18	chr4:8023800-8037200	Weak transcription	Brain Cingulate Gyrus	brain
19	chr4:8023800-8041200	Weak transcription	Brain Substantia Nigra	brain
20	chr4:8024000-8027400	Weak transcription	Spleen	Spleen
21	chr4:8025800-8026400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr4:8025800-8026400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
23	chr4:8025800-8026600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
24	chr4:8025800-8031800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr4:8026000-8026200	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain

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