Variant report

Variant	rs73846941
Chromosome Location	chr4:129522551-129522552
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:129518963..129527383-chr4:129727996..129735335,14	K562	blood:
2	chr4:129521846..129523851-chr4:129730837..129734105,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SCLT1-2	chr4:129522468-129522562	XLOC_004073
2	lnc-SCLT1-2	chr4:129522468-129522555	XLOC_004073
3	lnc-SCLT1-2	chr4:129519650-129522624	NONHSAT098279

Variant related genes	Relation type
ENSG00000077684	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs1216401	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869258	chr4:129191619-130138148	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
2	nsv1017672	chr4:129450450-129603977	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129518000-129524000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr4:129518800-129523600	Enhancers	Pancreas	Pancrea
3	chr4:129519000-129523400	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr4:129519800-129522800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr4:129519800-129522800	Enhancers	Fetal Heart	heart
6	chr4:129519800-129523400	Enhancers	Right Ventricle	heart
7	chr4:129519800-129523600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr4:129519800-129523600	Enhancers	Fetal Muscle Leg	muscle
9	chr4:129520000-129523000	Enhancers	Fetal Kidney	kidney
10	chr4:129520000-129523600	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr4:129520000-129523600	Enhancers	Fetal Stomach	stomach
12	chr4:129520000-129523600	Enhancers	Ovary	ovary
13	chr4:129520200-129523400	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr4:129520200-129523400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr4:129520400-129523000	Enhancers	Psoas Muscle	Psoas
16	chr4:129520400-129523200	Enhancers	Brain Angular Gyrus	brain
17	chr4:129520400-129523400	Enhancers	Esophagus	oesophagus
18	chr4:129520400-129523400	Enhancers	Left Ventricle	heart
19	chr4:129520400-129523400	Enhancers	Stomach Mucosa	stomach
20	chr4:129520400-129523600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr4:129520400-129523600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr4:129520400-129523600	Enhancers	Lung	lung
23	chr4:129520600-129523200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr4:129520600-129523400	Enhancers	Brain Substantia Nigra	brain
25	chr4:129520600-129523600	Enhancers	HUVEC	blood vessel
26	chr4:129520600-129524000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr4:129520800-129522600	Enhancers	Osteobl	bone
28	chr4:129520800-129522800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr4:129520800-129523000	Enhancers	Fetal Lung	lung
30	chr4:129520800-129523600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr4:129520800-129523600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr4:129520800-129523600	Enhancers	Fetal Intestine Large	intestine
33	chr4:129520800-129523600	Enhancers	Fetal Intestine Small	intestine
34	chr4:129520800-129523600	Enhancers	Stomach Smooth Muscle	stomach
35	chr4:129520800-129523600	Enhancers	HSMM	muscle
36	chr4:129520800-129524400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr4:129520800-129524800	Enhancers	NHLF	lung
38	chr4:129520800-129525400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr4:129521000-129523800	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr4:129521000-129524600	Enhancers	Muscle Satellite Cultured Cells	--
41	chr4:129521600-129522600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr4:129521600-129522600	Flanking Active TSS	Brain Anterior Caudate	brain
43	chr4:129521600-129522800	Enhancers	Colonic Mucosa	Colon
44	chr4:129521600-129522800	Enhancers	Right Atrium	heart
45	chr4:129521600-129523000	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr4:129521600-129523000	Enhancers	Colon Smooth Muscle	Colon
47	chr4:129521600-129523000	Enhancers	Fetal Brain Male	brain
48	chr4:129521600-129523200	Enhancers	Duodenum Smooth Muscle	Duodenum
49	chr4:129521600-129523200	Enhancers	Rectal Mucosa Donor 31	rectum
50	chr4:129521600-129523200	Flanking Active TSS	HepG2	liver

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