Variant report

Variant	rs73421715
Chromosome Location	chr7:104647211-104647212
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:104646792..104648750-chr7:104757505..104760148,2	K562	blood:
2	chr17:59485726..59487410-chr7:104646089..104648934,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SRPK2-1	chr7:104637584-104654636	NONHSAT122594

Variant related genes	Relation type
ENSG00000121068	Chromatin interaction
ENSG00000135250	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs56007018	1.00[AMR][1000 genomes]
rs56397729	1.00[AMR][1000 genomes]
rs57369490	1.00[AMR][1000 genomes]
rs57437921	1.00[AMR][1000 genomes]
rs57834400	1.00[AMR][1000 genomes]
rs58052615	1.00[AMR][1000 genomes]
rs58436549	1.00[AMR][1000 genomes]
rs58652912	1.00[AMR][1000 genomes]
rs58727441	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59672048	1.00[AMR][1000 genomes]
rs59965211	1.00[AMR][1000 genomes]
rs60336509	1.00[AMR][1000 genomes]
rs60649764	1.00[AMR][1000 genomes]
rs60711291	1.00[AMR][1000 genomes]
rs60977282	1.00[AMR][1000 genomes]
rs61258714	1.00[AMR][1000 genomes]
rs73404009	1.00[AMR][1000 genomes]
rs73404010	1.00[AMR][1000 genomes]
rs73404019	1.00[AMR][1000 genomes]
rs73404022	1.00[AMR][1000 genomes]
rs73404030	1.00[AMR][1000 genomes]
rs73404039	1.00[AMR][1000 genomes]
rs73404052	1.00[AMR][1000 genomes]
rs73404060	1.00[AMR][1000 genomes]
rs73404066	1.00[AMR][1000 genomes]
rs73404071	1.00[AMR][1000 genomes]
rs73404094	1.00[AMR][1000 genomes]
rs73417640	1.00[AMR][1000 genomes]
rs73417643	1.00[AMR][1000 genomes]
rs73417647	1.00[AMR][1000 genomes]
rs73417652	1.00[AMR][1000 genomes]
rs73417661	1.00[AMR][1000 genomes]
rs73417662	1.00[AMR][1000 genomes]
rs73417667	1.00[AMR][1000 genomes]
rs73417669	1.00[AMR][1000 genomes]
rs73417674	1.00[AMR][1000 genomes]
rs73419733	1.00[AMR][1000 genomes]
rs73419738	1.00[AMR][1000 genomes]
rs73419746	1.00[AMR][1000 genomes]
rs73419748	1.00[AMR][1000 genomes]
rs73419776	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73419784	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73419799	1.00[AMR][1000 genomes]
rs73419801	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73421712	1.00[AFR][1000 genomes]
rs73421732	1.00[AMR][1000 genomes]
rs73421755	1.00[AMR][1000 genomes]
rs73421758	1.00[AMR][1000 genomes]
rs73421762	1.00[AMR][1000 genomes]
rs73714148	1.00[AMR][1000 genomes]
rs73714170	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029283	chr7:104571741-104729168	Strong transcription Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	132 gene(s)	inside rSNPs	diseases
2	nsv888927	chr7:104614664-104781644	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
3	esv2829879	chr7:104618318-104652671	Transcr. at gene 5' and 3' Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
4	nsv608068	chr7:104622402-104757483	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
5	nsv437561	chr7:104626690-104647571	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104625000-104647400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:104633600-104650400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr7:104636400-104649400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr7:104639400-104649800	Genic enhancers	Fetal Intestine Small	intestine
5	chr7:104639800-104648800	Enhancers	Colon Smooth Muscle	Colon
6	chr7:104640200-104648600	Genic enhancers	Dnd41	blood
7	chr7:104641800-104649000	Weak transcription	Fetal Muscle Trunk	muscle
8	chr7:104641800-104651800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr7:104642000-104650200	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr7:104642000-104650600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr7:104642200-104650000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr7:104642400-104651000	Weak transcription	Esophagus	oesophagus
13	chr7:104642400-104652200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr7:104643400-104648200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr7:104643600-104650800	Genic enhancers	Primary B cells from peripheral blood	blood
16	chr7:104644000-104649400	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr7:104644400-104648600	Weak transcription	Aorta	Aorta
18	chr7:104644400-104649000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr7:104644600-104647800	Weak transcription	Gastric	stomach
20	chr7:104644600-104648600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr7:104644600-104649200	Genic enhancers	NHEK	skin
22	chr7:104644600-104650200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr7:104644800-104647600	Enhancers	Primary T cells from cord blood	blood
24	chr7:104644800-104650200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr7:104644800-104650400	Weak transcription	HSMMtube	muscle
26	chr7:104645000-104647400	Weak transcription	Fetal Brain Male	brain
27	chr7:104645000-104647600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr7:104645000-104647800	Weak transcription	Colonic Mucosa	Colon
29	chr7:104645000-104648600	Weak transcription	NH-A	brain
30	chr7:104645000-104648800	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr7:104645000-104649200	Weak transcription	Fetal Brain Female	brain
32	chr7:104645200-104647600	Weak transcription	Fetal Muscle Leg	muscle
33	chr7:104645200-104648200	Strong transcription	Fetal Stomach	stomach
34	chr7:104645200-104648600	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr7:104645200-104650200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr7:104645400-104647400	Weak transcription	Fetal Heart	heart
37	chr7:104645400-104647400	Weak transcription	Small Intestine	intestine
38	chr7:104645400-104647600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr7:104645400-104647600	Weak transcription	Hela-S3	cervix
40	chr7:104645400-104649400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr7:104645800-104647400	Weak transcription	Left Ventricle	heart
42	chr7:104645800-104647400	Weak transcription	Psoas Muscle	Psoas
43	chr7:104645800-104647400	Weak transcription	Right Atrium	heart
44	chr7:104645800-104649400	Enhancers	Primary T helper cells fromperipheralblood	blood
45	chr7:104646000-104647400	Strong transcription	HUES48 Cell Line	embryonic stem cell
46	chr7:104646000-104647800	Enhancers	Fetal Intestine Large	intestine
47	chr7:104646000-104648200	Enhancers	Placenta	Placenta
48	chr7:104646200-104649000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
49	chr7:104646400-104647400	Weak transcription	Pancreas	Pancrea
50	chr7:104646400-104648600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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