Variant report

Variant	rs7336027
Chromosome Location	chr13:50138802-50138803
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	chr13:50137662..50139363-chr13:50159195..50160839,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136144	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1925743	0.80[ASN][1000 genomes]
rs7322971	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7981448	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9535267	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047311	chr13:49895019-50224227	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv916093	chr13:50050919-50290245	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1036135	chr13:50071310-50183103	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv541770	chr13:50071310-50183103	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv1054965	chr13:50102730-50251347	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv541771	chr13:50102730-50251347	Enhancers Active TSS Genic enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	esv2763020	chr13:50105055-50192259	Weak transcription Flanking Active TSS 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	10 gene(s)	inside rSNPs	diseases
8	nsv900071	chr13:50107289-50286218	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
9	nsv1052801	chr13:50116407-50144995	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
10	nsv561616	chr13:50120435-50190246	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
11	nsv949162	chr13:50120985-50195882	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	nsv1046912	chr13:50122840-50189313	Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
13	nsv1043902	chr13:50122840-50189999	Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
14	esv2761789	chr13:50122852-50185910	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
15	nsv455883	chr13:50124621-50185204	Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
16	nsv561617	chr13:50124621-50185204	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
17	nsv1043697	chr13:50129199-50249241	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50075000-50143800	Weak transcription	Small Intestine	intestine
2	chr13:50088400-50151000	Weak transcription	Psoas Muscle	Psoas
3	chr13:50094600-50141600	Weak transcription	Right Ventricle	heart
4	chr13:50101600-50142800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr13:50104600-50143800	Weak transcription	Hela-S3	cervix
6	chr13:50108600-50158800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr13:50115000-50140400	Weak transcription	Fetal Brain Male	brain
8	chr13:50115200-50140400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr13:50115400-50141200	Weak transcription	K562	blood
10	chr13:50115400-50143200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr13:50117800-50139200	Strong transcription	Fetal Thymus	thymus
12	chr13:50120200-50139000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr13:50122000-50158000	Weak transcription	Brain Germinal Matrix	brain
14	chr13:50124000-50158800	Weak transcription	Esophagus	oesophagus
15	chr13:50125600-50140600	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr13:50126400-50140600	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr13:50126400-50152400	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr13:50128200-50142200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr13:50129000-50158800	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr13:50129800-50155200	Weak transcription	Spleen	Spleen
21	chr13:50130000-50144200	Weak transcription	GM12878-XiMat	blood
22	chr13:50130200-50143800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr13:50130400-50158800	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr13:50132400-50153600	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr13:50132400-50153800	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr13:50132400-50153800	Weak transcription	NH-A	brain
27	chr13:50132600-50140600	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr13:50133400-50154000	Weak transcription	Colon Smooth Muscle	Colon
29	chr13:50133600-50140400	Weak transcription	Fetal Kidney	kidney
30	chr13:50133600-50140600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr13:50133800-50143800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr13:50134000-50143800	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr13:50134200-50139600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr13:50134200-50140400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr13:50134200-50140400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr13:50134200-50140400	Weak transcription	NHLF	lung
37	chr13:50134200-50140600	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr13:50134200-50140600	Weak transcription	Primary hematopoietic stem cells	blood
39	chr13:50134200-50140600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr13:50134200-50140600	Weak transcription	HSMM	muscle
41	chr13:50134200-50151000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr13:50134200-50158400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr13:50134200-50158400	Weak transcription	Fetal Brain Female	brain
44	chr13:50134400-50140600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr13:50134400-50151000	Weak transcription	HSMMtube	muscle
46	chr13:50135000-50158600	Weak transcription	Rectal Smooth Muscle	rectum
47	chr13:50135200-50144200	Weak transcription	A549	lung
48	chr13:50135200-50144400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr13:50135200-50153400	Weak transcription	Gastric	stomach
50	chr13:50135200-50154000	Weak transcription	Placenta	Placenta

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