Variant report

Variant	rs41313119
Chromosome Location	chr7:150677179-150677180
allele	A/C
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	JUND	chr7:150677146-150677240	K562	blood:	n/a	n/a
2	MXI1	chr7:150667686-150678267	SK-N-SH	brain:	n/a	chr7:150668498-150668513 chr7:150668500-150668515
3	REST	chr7:150674299-150677276	H1-neurons	neurons:	n/a	chr7:150676665-150676685 chr7:150676666-150676684 chr7:150676421-150676434 chr7:150675568-150675581 chr7:150676665-150676685 chr7:150676295-150676315
4	STAT3	chr7:150677169-150677194	MCF10A-Er-Src	breast:	n/a	n/a
5	RAD21	chr7:150675446-150678328	SK-N-SH	brain:	n/a	chr7:150676868-150676887 chr7:150677600-150677610
6	REST	chr7:150676714-150677430	U87	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:150661579..150663428-chr7:150675690..150677350,2	MCF-7	breast:
2	chr7:150675423..150678179-chr7:150678935..150681223,3	MCF-7	breast:
3	chr7:150019591..150022356-chr7:150674947..150677441,2	K562	blood:
4	chr7:150669264..150677850-chr7:150681612..150689209,13	MCF-7	breast:

Variant related genes	Relation type
KCNH2	TF binding region
ENSG00000127399	Chromatin interaction
ENSG00000106526	Chromatin interaction
ENSG00000164867	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11974098	1.00[AMR][1000 genomes]
rs41308996	1.00[AMR][1000 genomes]
rs41313116	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41313128	1.00[AMR][1000 genomes]
rs41313746	1.00[AMR][1000 genomes]
rs58401354	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59021877	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59103158	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60249483	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv608990	chr7:149961274-150707488	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv1030109	chr7:150312916-150701010	Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	esv1821419	chr7:150593315-150974269	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	128 gene(s)	inside rSNPs	diseases
4	nsv1022246	chr7:150619660-150779924	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
5	nsv889463	chr7:150640285-150700946	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv889464	chr7:150640285-150723467	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	nsv889465	chr7:150640285-150800823	Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
8	nsv889466	chr7:150642341-150687430	Enhancers Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
9	nsv1017863	chr7:150643928-150779924	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
10	nsv539197	chr7:150643928-150779924	Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
11	nsv1028645	chr7:150643928-150806534	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
12	nsv539198	chr7:150643928-150879259	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
13	nsv889467	chr7:150645534-150723467	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
14	nsv889468	chr7:150652419-150696111	Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
15	nsv889469	chr7:150657209-150747746	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
16	nsv609002	chr7:150667210-150678080	Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
17	nsv889470	chr7:150667210-150696111	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
18	nsv8231	chr7:150671367-150681014	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150675400-150677400	Enhancers	Spleen	Spleen
2	chr7:150675600-150677200	Flanking Active TSS	Stomach Smooth Muscle	stomach
3	chr7:150675600-150677400	Enhancers	Lung	lung
4	chr7:150675800-150678000	Bivalent Enhancer	Placenta	Placenta
5	chr7:150676000-150677200	Bivalent Enhancer	Fetal Thymus	thymus
6	chr7:150676000-150677800	Enhancers	Fetal Brain Male	brain
7	chr7:150676000-150685400	Weak transcription	Pancreas	Pancrea
8	chr7:150676200-150677200	Enhancers	Fetal Lung	lung
9	chr7:150676200-150677800	Bivalent Enhancer	Fetal Intestine Large	intestine
10	chr7:150676200-150680200	Enhancers	Brain Angular Gyrus	brain
11	chr7:150676200-150680800	Enhancers	Brain Substantia Nigra	brain
12	chr7:150676400-150677200	Enhancers	A549	lung
13	chr7:150676400-150677200	Enhancers	K562	blood
14	chr7:150676400-150677400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr7:150676400-150677800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr7:150676400-150680200	Enhancers	Brain Anterior Caudate	brain
17	chr7:150676600-150677200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
18	chr7:150676600-150677400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr7:150676600-150677400	Genic enhancers	Right Atrium	heart
20	chr7:150676600-150677600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr7:150676600-150677800	Bivalent Enhancer	Fetal Intestine Small	intestine
22	chr7:150676600-150678200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
23	chr7:150676600-150678200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
24	chr7:150676600-150678400	Bivalent Enhancer	Fetal Stomach	stomach
25	chr7:150676600-150680200	Bivalent Enhancer	Fetal Muscle Leg	muscle
26	chr7:150676800-150677400	Enhancers	HSMM	muscle
27	chr7:150676800-150677600	Enhancers	Colon Smooth Muscle	Colon
28	chr7:150676800-150677600	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
29	chr7:150676800-150677600	Enhancers	HSMMtube	muscle
30	chr7:150676800-150678000	Enhancers	H9 Cell Line	embryonic stem cell
31	chr7:150676800-150678000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr7:150676800-150678200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr7:150676800-150678200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
34	chr7:150676800-150678200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr7:150676800-150678200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr7:150676800-150678400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
37	chr7:150676800-150678600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
38	chr7:150676800-150678800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
39	chr7:150676800-150680400	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr7:150677000-150677200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
41	chr7:150677000-150677200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr7:150677000-150677200	Flanking Active TSS	Brain Hippocampus Middle	brain
43	chr7:150677000-150677200	Bivalent Enhancer	HMEC	breast
44	chr7:150677000-150677400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr7:150677000-150677600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr7:150677000-150677800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr7:150677000-150677800	Bivalent Enhancer	Rectal Smooth Muscle	rectum
48	chr7:150677000-150678200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
49	chr7:150677000-150678200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
50	chr7:150677000-150678400	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell

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