Variant report

Variant	rs1197706
Chromosome Location	chr15:42085407-42085408
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:42067373..42071061-chr15:42083349..42086299,3	K562	blood:
2	chr15:42084827..42086940-chr15:42091346..42094330,2	K562	blood:

Variant related genes	Relation type
ENSG00000137802	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1122884	1.00[ASN][1000 genomes]
rs11631051	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11632519	1.00[ASN][1000 genomes]
rs11633160	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11634083	1.00[ASN][1000 genomes]
rs11634804	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11636523	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1197667	1.00[ASN][1000 genomes]
rs1197669	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1197671	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1197672	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1197702	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1197705	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12906666	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17677757	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17678310	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2178003	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2925339	0.89[EUR][1000 genomes]
rs34621600	1.00[ASN][1000 genomes]
rs35476790	1.00[ASN][1000 genomes]
rs8042809	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931223	chr15:41989960-42781757	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
2	nsv1036086	chr15:42004962-42091451	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers 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	15 gene(s)	inside rSNPs	diseases
3	nsv1054671	chr15:42016097-42098896	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	esv2757597	chr15:42047173-42122617	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	esv2760027	chr15:42047173-42122617	Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Active TSS 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 miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv904113	chr15:42050390-42118971	Genic enhancers Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv904114	chr15:42050390-42119900	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
8	nsv427958	chr15:42051317-42301283	Strong transcription Weak transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
9	nsv904115	chr15:42076387-42171483	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
10	nsv904116	chr15:42076387-42229852	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
11	nsv1038393	chr15:42083574-42188035	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42070200-42109800	Weak transcription	Fetal Brain Male	brain
2	chr15:42071000-42092800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr15:42071200-42092000	Weak transcription	Brain Germinal Matrix	brain
4	chr15:42079200-42090000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr15:42079800-42089000	Enhancers	HMEC	breast
6	chr15:42080600-42086600	Enhancers	Ovary	ovary
7	chr15:42080600-42086800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr15:42080600-42088200	Enhancers	NHDF-Ad	bronchial
9	chr15:42081000-42091800	Enhancers	Placenta	Placenta
10	chr15:42081600-42085600	Enhancers	Fetal Muscle Leg	muscle
11	chr15:42081600-42087200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr15:42081800-42086600	Enhancers	K562	blood
13	chr15:42081800-42092400	Weak transcription	Fetal Brain Female	brain
14	chr15:42082400-42086400	Enhancers	Fetal Heart	heart
15	chr15:42082400-42088800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr15:42082600-42092000	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr15:42082800-42092400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr15:42083400-42085800	Weak transcription	Brain Angular Gyrus	brain
19	chr15:42083400-42091000	Weak transcription	Fetal Stomach	stomach
20	chr15:42083400-42092000	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr15:42083600-42089400	Weak transcription	Small Intestine	intestine
22	chr15:42083600-42104600	Weak transcription	Liver	Liver
23	chr15:42083600-42109200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr15:42083800-42087200	Genic enhancers	NHEK	skin
25	chr15:42083800-42088000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr15:42083800-42088200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr15:42083800-42088200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr15:42083800-42088400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr15:42083800-42088800	Weak transcription	Aorta	Aorta
30	chr15:42083800-42089200	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr15:42083800-42096600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr15:42083800-42098600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr15:42083800-42098600	Weak transcription	Pancreas	Pancrea
34	chr15:42083800-42098600	Weak transcription	A549	lung
35	chr15:42083800-42103200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr15:42083800-42103400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr15:42083800-42104400	Weak transcription	Colonic Mucosa	Colon
38	chr15:42083800-42105000	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr15:42083800-42119400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr15:42084000-42085800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr15:42084000-42085800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr15:42084000-42085800	Weak transcription	Esophagus	oesophagus
43	chr15:42084000-42085800	Weak transcription	NHLF	lung
44	chr15:42084000-42085800	Weak transcription	Osteobl	bone
45	chr15:42084000-42086000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr15:42084000-42086000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr15:42084000-42086000	Weak transcription	Brain Hippocampus Middle	brain
48	chr15:42084000-42087400	Weak transcription	Primary B cells from cord blood	blood
49	chr15:42084000-42087400	Weak transcription	Primary B cells from peripheral blood	blood
50	chr15:42084000-42087400	Weak transcription	Primary T cells from cord blood	blood

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